Abstracts of Recent Capstone Projects
Class of 2013
An Exploration of the Availability of Perinatal Palliative Care Services: Services Genetic Counselors Provide When No Formal Perinatal Palliative Care Service is Available By Erin Eaton
Background: Perinatal palliative care (PPC) is a service that aids families who learn of a fetus’s life-limiting condition during the course of a pregnancy. Genetic counselors are able to refer families to PPC after providing them with the news of a life-limiting condition in their unborn baby. Limited data exists regarding PPC from the genetic counseling perspective. Purpose: The goal of this study was to assess prenatal genetic counselors’ knowledge regarding the availability of PPC services, how they meet the needs of their patients when no organized PPC services are available locally, and their perceptions of PPC and barriers to providing PPC. Methods: This was assessed via anonymous online survey that was developed following a review of the literature. It included the Perinatal Palliative Care Perceptions and Barriers Scale (PPCPBS) Instrument© (Wool & Northam, 2011). Members of the National Society of Genetic Counselors were invited to participate in an online survey made available in winter of 2012. Practicing prenatal genetic counselors and those who have practiced within the last five years were eligible participants. Results: A total of 141 genetic counselors participated in the survey. Descriptive statistics indicated that the majority of participants have access to PPC services and that those without access offer aspects of PPC to their clients. Results from the PPCPBS Instrument indicated that participants held positive perceptions of PPC and encounter few barriers to providing PPC. Genetic counselors with access to PPC were more likely to hold positive perceptions of PPC (p= .011) and encounter few barriers to providing PPC for their clients (p < 0.0001). Qualitative data was collected regarding perceptions, barriers, and availability of PPC. Open-ended responses revealed overwhelmingly positive themes regarding participants’ perception of PPC, the provision of PPC for clients, and advice for counselors without access to PPC. Themes included: pursuit of PPC/TOP is individual to each client, all options should be presented to clients, and PPC is valuable for clients and providers. Additionally, there was encouragement for counselors without PPC to start a program, seek support from local resources, and to facilitate access to services for clients. Qualitative data was also collected regarding barriers to providing PPC. Themes that emerged included: having access to some aspects of PPC despite lack of a formal program, lack of resources, and lack of support for PPC from the institution or other health care providers. Conclusion: Overall, participants have access to PPC, appear to have a positive perception of PPC, and encounter few barriers to providing PPC to clients. Participants without access provide aspects of PPC to their clients. Qualitative responses further elucidated the perceived value of PPC for genetic counseling clients in position to utilize such services. This study can be added to the limited body of literature regarding genetic counselors and perinatal palliative care.
Perceptions of Self-Efficacy in Select Supervision Competencies Among Clinical Supervisors in Genetic Counseling By Sabra Ledare Finley
Background: Supervision is the primary instructional vehicle for genetic counseling student clinical training. Seventy-one percent of genetic counselors report supervisory roles (NSGC PSS, 2012). The first comprehensive list of empirically-derived competencies for genetic counselor supervisors published recently (Higgins et al., 2013). Studies have yet to evaluate whether supervisors possess these competencies, how they learn supervision skills, and whether experience is related to competencies. Purpose: This study investigated three major research questions: (1) How do genetic counselor supervisors assess their capabilities (self-efficacy) for a select group of supervisor competencies? (2) Are their self-assessments related to years of supervision experience and years of genetic counseling experience? (3) What methods do they use to develop supervision skills and what are their training methods preferences? Methods: One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics (including supervision experience, years of genetic counseling experience); self-efficacy (confidence) for 12 goal setting and 16 feedback competencies (Scale: 0-100%); competencies that are challenging, methods used to learn about supervision, and preferred training methods (open-ended). Regression analyses, ANOVA, and correlation analyses assessed relationships between self-efficacy ratings and supervision and work experience and relationships between preferred training methods and supervision and work experience. Results: Mean self-efficacy ratings were high across competencies (>83.7). Participant comments revealed several challenging goal setting and feedback competencies, however. Self-efficacy was significantly related to supervision experience (p < .05) but not work experience. Training methods rated as highly effective included consultation with colleagues (61%), peer supervision group (54%) and workshops/seminars provided by genetic counseling programs (50%). Training methods preferences differed between measures of supervision experience and work experience. Conclusion: Self-efficacy regarding competencies was significantly related to supervision experience but not genetic counseling experience, supporting assertions that supervision is a discrete activity involving a distinct skill set. Despite generally high self-efficacy ratings, participants’ comments provide insight into competencies they found challenging, and indicate preferred training methods for further skill development. The findings will inform future supervision training and research.
Billing, Reimbursement, and Barriers of the Genetic Counseling CPT Code: The North Carolina Experience. By Rebecca Fowler
Background: In 2007, the American Medical Association introduced the 96040 CPT code to bill for “Medical Genetics and Genetic Counseling Services”. Harrison et al. showed that a minority of counselors were billing using this code and many had encountered significant barriers in billing (2007). Purpose: The goal of this study was to investigate the billing practices of genetic service providers in North Carolina, to assess reimbursement for use of the genetic counseling CPT code, and to identify primary barriers to use of the code. Methods: Genetic service providers that are members of the North Carolina Medical Genetics Association were surveyed and one billing and reimbursement specialist was interviewed. Descriptive statistics were used to assess for trends in the data, and t-test analyses were performed to assess for associations. Results: Twenty-one respondents completed the survey. Fourteen (67%) indicated that their institution was currently billing using the code. Respondents reported significantly higher billing knowledge than reimbursement knowledge. The most commonly indicated reasons for not billing with the code included lack of state licensure, employer policies that prevent counselors from billing independently, and the perceived lack of reimbursement. The majority of respondents reported that increasing usage and consistency of the code would benefit genetic counselors (81%) and patients (76%). The interviewee suggested that a significant barrier to use of the code was poor reimbursement and advocating for better reimbursement was recommended. Conclusion: While most respondents reported billing using the genetic counseling CPT code, there are significant barriers to use of the code. Efforts to improve reimbursement and obtain licensure for genetic counselors in North Carolina may help address these barriers. Further research is needed to clarify reimbursement rates and reasons for denials, and to assess whether the code is used more often in states with licensure for genetic counselors.
Application of the NSGC Practice Guidelines for Hereditary Breast and Ovarian Cancer Genetic Counseling to Male Patients. By Kati L. Joseph
Background: Nearly all individuals who seek genetic counseling for an indication of hereditary breast and ovarian cancer (HBOC) syndrome are female. Yet, in recent years studies focusing on the experience of males who have genetic counseling for HBOC have shown unexpected psychosocial needs and expectations that may differ from female patients. Purpose: In light of these findings, this study aims to determine whether genetic counselors utilize National Society of Genetic Counselors (NSGC) guidelines for HBOC counseling similarly for their male patients as they do for their female patients. Given the prior data that show unique psychosocial needs and concerns for male patients seeking HBOC, we hypothesized that use of guidelines might differ between male and female patients Methods: An anonymous online survey, which was pilot tested with a small sample of genetic counselors, was emailed to the general NSGC listserv. Participants were required to be current or former cancer genetic counselors and must have seen at least one male patient for HBOC. Results: Two hundred fourteen cancer counselors answered the 55-item survey of their experiences with male patients and the utilization of professional guidelines for male and female patients. Crosstab analysis was used to determine utilization frequency of guidelines for male and female patients. Respondents reported that they use the guidelines with similar frequency for male and female patients. The majority of respondents (56%) did not feel that there were counseling issues specific to males that should be included in the guidelines and therefore reported that HBOC counseling for male and female patients is largely similar. However, 40% of participants answered “unsure” when asked about counseling issues for male patients not included in the guidelines. Conclusion: These results suggest that there is room for expansion about our knowledge of males evaluated for HBOC, including future studies examining the needs and expectations of male patients seeking genetic counseling and a comparison of self-reports from male patients with the results of this study.
Standardization of Nuchal Translucency Assessments: Cutoffs, Recommendations and Counseling Approaches. By Amy Kendall
Background: The National Society of Genetic Counselors (NSGC) does not have established guidelines regarding counseling for abnormal nuchal translucency (NT) measurements. The American College of Obstetrics and Gynecology recommends using a NT cutoff of 3.5 mm. In the literature, there is a lack of consensus regarding the NT cutoff that should be used to confer a high risk for fetal aneuploidy, which may lead to variability regarding interpretation, counseling and follow up care. Purpose: The goal of this study was to assess the NT cutoffs, recommendations for follow up testing and counseling approaches utilized in assessments performed by prenatal genetic counselors and providers within their clinics. Methods: Prenatal counselors with NSGC membership were surveyed utilizing the NSGC email listserv. Survey data was analyzed for frequency and comparative statistical methods were used. Thematic analysis was performed on qualitative data. Results: 115 participants completed the survey. NT cutoffs used in respondents’ clinics were variable; 3.5 mm (48.7%), 3.0 mm (20%) and ≥ 95% (20%) were most commonly reported. 41.7% of respondents were unaware of what resource(s) their clinic uses to justify their NT cutoff(s). Follow up options of Amniocentesis, Fetal echocardiogram, Target ultrasound, and CVS were the most common follow up options offered although the NT cutoff at which they are offered varied. Drawings/illustrations were used by 62 participants (53.9%) when counseling patients and 56.5% felt that adequate counseling aids are available. 83.5% of respondents thought standardized guidelines would be beneficial and improve patient care. Conclusion: This data did not produce statistical significance to correlate cutoff(s) and follow up testing. However, the variance of the data demonstrates a wide range of interpretation of an abnormal NT. This variability may present challenges in counseling and patient comprehension and may impact patient care. Data from this study may be used to promote further studies and direct the development of specific guidelines.
Knowledge, Understanding and Coping Strategies of Siblings of Children with 22q11.2 Deletion Syndrome. By Rebecca A. Okashah
Background: 22q11.2 deletions syndrome (22q11.2DS) is the most common microdeletion in humans. There have been few studies assessing the impact of this condition on the family and no previous studies conducted on siblings of children with 22q11.2 deletion syndrome (22q11.2DS). Purpose: The goal of this study was to assess knowledge, understanding and coping strategies of siblings of children with 22q11.2DS and to determine what information was being communicated by parents to unaffected siblings about this condition. Methods: Participants were recruited from several 22q11.2DS educational and support organizations and asked to complete a single anonymous online survey. Families were eligible to participate if they had one child with 22q11.2DS and at least one unaffected child between the ages of 12 and 17. Survey questions were developed based on previous literature and authors’ expertise with patients with 22q11.2DS. Coping strategies were assessed using the Coping Strategies Inventory (CSI) (Garcia, Franco, & Martinez, 2007). Frequencies and proportions were tabulated for quantitative questions. Qualitative questions were analyzed for themes. Results: A total of 28 parents and 25 siblings participated in the study. Parents shared medical, behavioral and genetic information with 94.3%, 85.3% and 68.6% of siblings, respectively. Siblings scored relatively high on knowledge questions with the lowest scores being on questions related to the genetics of inheritance. Siblings of children with 22q11.2DS have positive and negatives experiences in having a brother or sister with this condition. Cognitive restructuring, which modifies the meaning of a stressful situation, was the most commonly used coping strategy. Conclusion: Genetics information is communicated less often by parents and the genetics of inheritance is least understood by siblings. The experiences and coping strategies of siblings of children with 22q11.2DS is a varied and complex topic for which genetic counselors are well-suited to help families including sibling understand the 22q11.2DS diagnosis.
Needs Assessment and Evaluation of Resources Available to Couples Following Termination of Pregnancy for Fetal Indications. By Anna Wesseler
Background: McCoyd (2007 & 2009) and Kersting et al. (2005) indicate that long-term, tailored support is desired by women who terminate for fetal anomalies, yet this type of support is limited. Purpose: The goals of this study were to assess the needs of individuals that have terminated for fetal indications and to describe and evaluate current support resources that address their immediate and long-term supportive needs. Methods: This mixed method study collected qualitative and quantitative data through a focus group discussion with women who had terminated for fetal anomalies and an online survey of prenatal genetic counselors who are members of NSGC. Results: Focus group participants expressed a desire for a personal contact and appropriate educational and informational support during the decision-making process. Desired long-term support included periodic meetings around difficult dates and important life events and remembrance rituals. 71 participants completed the survey. 66% of survey participants indicated that resources provided to patients who terminate for fetal anomalies likely do not meet all patient needs. Respondents felt that long-term, emotional, and informational patient needs were least likely to be met successfully. Prenatal genetic counselors reported limited quantity and limited awareness of resources to be the most common barriers to providing support resources to these patients. 54% percent of survey participants reported that they lack sufficient awareness of available and appropriate resources for patients who terminate for fetal anomalies. Conclusions: We propose that future supportive programs for women and couples who terminate for fetal anomalies should consider including support services similar to those offered by Heartstrings Pregnancy & Infant Loss Support: connections program, general pregnancy loss support group, subsequent pregnancy support group, termination for fetal anomalies-specific support group, remembrance events, online support, and access to the director of bereavement and support services. These services may be supplemented with personal-contact services, informational support during the decision-making process, and periodic long-term support meetings. We developed a comprehensive resource describing 22 support programs for patients who terminate for fetal anomalies based on our online search and survey data to be shared with prenatal genetic counselors.
Class of 2012
Exploring Genetic Counseling Licensure in North Carolina: Current Attitudes and Pursuits of Licensure Both Nationally and Locally By Michelle Burch
The field of genetic counseling is currently gaining licensure in a state-by-state manner and there is limited reported information on the progress of these efforts. The present study examined two different aspects of genetic counseling licensure using two separate surveys: 1) Nationwide experiences of genetic counselors actively pursuing licensure and 2) Attitudes regarding licensure of genetic counselors in North Carolina. The nationwide survey assessed personal and state’s experiences of those genetic counselors actively involved in licensure efforts. In addition to positive outcomes of licensure, results revealed obstacles in gaining support for licensure and detailed suggestions to make a licensure pursuit more successful. The North Carolina genetic counselors and medical geneticists were also surveyed to assess this specific state’s interest in pursuing licensure. In North Carolina, the majority of participants are supportive of licensure efforts and shared opinions regarding licensure eligibility, education requirements, and temporary licenses. Thoughts were; however, more varied regarding supervision of fully-licensed genetic counselors and ordering of genetic tests. Since licensure is being actively pursued in many states, this study provides practical guidance regarding these efforts and will be useful to all states, including North Carolina, who wish to continue or begin the pursuit of licensure. This study has also shown significant support and interest concerning genetic counselor licensure specifically in the state of North Carolina and responses from this state revealed areas for further discussion. Further studies are necessary to assess attitudes of other stakeholders in North Carolina, as this has not been previously examined.
Twin-Twin Transfusion Syndrome: A systematic Review and Meta-Analysis..By Natanya Fleming
Twin-Twin Transfusion Syndrome (TTTS) is a problem of unequal sharing of placental supply in monochorionic twins, often leading to fetal demise. Research on TTTS is well-represented in the scientific literature, but individualized, optimal treatment protocols have yet to be determined. In order to have the most successful neonatal outcomes, it is important to determine what presenting information will lead to the best treatment decision. Once identified, this data must be easily organized, stored, and retrieved in order to be shared within and between fetal care centers. Thus, a database consisting of theory- and research-driven data points that predict staging and intervention, diagnosis, and ultimate outcome of the disease is a necessary development in learning more about treatment for TTTS. This study is a methodical and systematic meta-synthesis of relevant research articles about TTTS to identify data points recommended for inclusion in a TTTS database. These data points were included in a survey sent to all NSGC members to confirm the accuracy and reliability of these factors based on the experience of other fetal therapy experts. Results noted many fetal care centers have databases, but almost 90% believed standardized data points would be helpful. The data also noted inconsistencies and non-consensus between genetic counselors’ responses and the literature review in respect to which data points would be most relevant to include in a database for patients with TTTS. This further emphasizes the need for standardized data points based in primary literature among fetal care centers for patients with TTTS. Suggestions for database construction are discussed. Standardizing databases as such between TTTS centers may help to answer research questions effectively and efficiently in the future.
Strategies to Increase Student Awareness of Genetic Counseling as a Career Option as Perceived by High School Science Teachers By Brittney N. Guerrero
According to The National Society of Genetic Counselors (NSGC) there are currently just fewer than 2,500 practicing genetic counselors in the United States. Over the next 10 years the Bureau of Labor and Statistics (BLS) expects the field to see growth between 14 and 19% with an estimated 29,100 job openings through 2018. Given current growth projections there has been a recent increase in the number of universities offering accredited genetic counseling programs (ABGC, 2012). The projected future need for genetic counselors calls for action to increase the potential pool of applicants. It has been reported that recruitment efforts should be focused on high school students, as many college students, have already chosen career paths (Wolfe et al., 2005). This study explored effective ways to work with teachers in efforts to raise awareness of the field among high school students. Results indicated that while teaches value the topic of careers in science and strive to incorporate career discussions in the classroom, many feel restricted by time and the need to focus on standardized state and national curriculum objectives. Teachers provided helpful feedback regarding how to incorporate discussions about genetic counseling as a career option with current objectives involving genetic concepts. Teachers also provided suggestions for how to communicate with the high school audience, such as using activity based learning and focusing lessons on relatable case scenarios.
Coping Mechanisms in Fathers of Children with Mucopolysaccharidoses By Julie D. Jesiolowski
No studies to date have explored coping mechanisms in fathers of children with muccopolysaccharidoses (MPS). The goal of this study was to use the Coping Health Inventory for Parents (CHIP) survey to assess coping styles in these men. Fathers who are members of the National MPS Society were invited to participate in an online survey in November of 2011. A total of eighty-four fathers completed the survey. Using statistical analysis, respondents scored highest on coping subscale II from the CHIP survey. This subscale is defined as maintaining social support, self-esteem, and psychological stability. Descriptive statistics suggests that fathers also rely heavily on their spouse for support, as well as investing themselves in their children. It appears that having a stable family unit is crucial for positive coping. The results also suggest a lack of support from other fathers of children with MPS. Common themes that emerged from the qualitative responses included having an optimistic outlook on life and living in the moment. Overall, fathers appear to be coping by preserving their personal well-being and relying on social support. This study should provide guidance for health care providers, genetic counselors, and support persons working with these families.
The Natural History of Pregnancies Diagnosed with Down Syndrome: Developing Counseling and Pregnancy Management Guidelines By Courtney Kiss
The natural history of pregnancies following the fetal diagnosis of Down syndrome remain poorly described, thus counseling and prenatal management of such pregnancies is inconsistent. The specific aim of this study was to describe outcomes in pregnancies diagnosed with Down syndrome and determine what predictors including ultrasound anomalies, markers of aneuploidy or other findings are associated with adverse pregnancy outcomes in an effort to establish guidelines for counseling and management. Ninety four prenatal cases of Down syndrome were identified through The University of North Carolina Health Care system cytogenetic database between January 1, 2000 to December 31, 2010 and a retrospective records review was performed. Eighty nine cases remained for inclusion and data was available for 23 cases with continuing pregnancies. Analysis was performed with Wilcoxon rank sum, Fisher’s exact test and the chisquare test. A significant association between the presence of a congenital anomaly and the occurrence of an adverse pregnancy complication was found. There was a significant difference in the median maternal age between the pregnancies with fetal death (defined as a second or third trimester loss) and the pregnancies with no fetal death. These results suggest that the presence of a congenital anomaly, or maternal age greater than 40 years in a pregnancy diagnosed with Down syndrome, may benefit from additional antenatal monitoring.
The Incorporation of Predictive Genomic Testing into Genetic Counseling Programs By Ryan Noss
Recently, the use of predictive genomic testing (PGT) has increased; yet its impact on the field of genetic counseling is unclear. One concern is genetic counselors’ preparedness in addressing PGT concerns with patients. This study explored how PGT is being incorporated into genetic counseling programs and the perceptions of recent graduate about the adequacy this coverage. Graduates of ABGC accredited genetic counseling programs between the years 2008 and 2011 were surveyed to assess the extent to which PGT was incorporated in their training programs and the adequacy of this coverage. Chi square analysis was utilized to identify changes over time between the class of 2008 and 2011. Surveys from 126 graduates were analyzed. The majority of respondents indicated the incorporation of a wide array of aspects surrounding types of PGT, including full genome sequencing, GWAS, SNPs, pharmacogenomics, and DTC-based PGT in their genetic counseling curricula. There was a significant increase in PGT in the curricula between the classes of 2008 and 2011. Fewer graduates reported learning how to interpret PGT test results, how to discuss these results with patients, and how to identify clinical situations warranting PGT. In regards to adequacy of coverage, 80.6% of graduates felt their training prepared them for the ABGC board exam. Fewer graduates felt prepared to interpret PGT test results (60.2%) or identify clinical situations warranting testing (53.1%).
Although the majority of respondents reported learning about a wide variety of aspects of PGT, some graduates indicated their training did not prepare them to interpret PGT test results, discuss these results with patients, and/or identify clinical situations warranting PGT. Efforts should be made to increase coverage of these aspects of PGT during genetic counseling training and through continuing education offerings.
College Students’ Knowledge of Fetal Alcohol Spectrum Disorders (FASD) By Sara Wienke
The purpose of this study was to assess the knowledge base of college students regarding fetal alcohol spectrum disorders (FASD) and to measure how a brief educational presentation may increase that knowledge. This study also aimed to determine if this educational presentation could potentially impact students’ desire to change current behaviors regarding alcohol consumption and pregnancy or the risk of unplanned pregnancy. To accomplish these goals, a class of 64 undergraduate non-biology major college students was given a pre-presentation and post-presentation survey with a brief educational presentation in between. Survey responses were compared using a paired t-test to assess for an overall increase in knowledge. Individual survey questions were compared using McNemar’s chi-squared test to determine if there was a significant change in knowledge for individual questions. Qualitative data was collected on the post-presentation survey to assess the impact that this educational presentation could have on future behaviors. The results demonstrated an increase in knowledge from the pre-presentation to post-presentation survey. Participants’ open-ended responses revealed that the delivery and content of the presentation was helpful and increased their knowledge on FASD. Participants commented that this type of educational presentation would benefit other college students as well. While actual behavior change could not be measured, results demonstrated the potential for future behavior change regarding alcohol consumption and pregnancy among participants.
Exploring the Relationship Between Diagnoses of Congenital Anomalies or Genetic Conditions and Postpartum Depression: A Retrospective Study By Meagan Wisenhart
10-15% of new mothers are affected by postpartum depression (PPD), making it the most common complication of childbirth. Though childcare stress is a risk factor for PPD, there has not been significant research on the relationship between caring for infants with congenital anomalies and/or genetic conditions and experiencing PPD. The need for research in this area is especially apparent as the exponential growth in the field of genetics has increased the number of genetic diagnoses in infants through newborn screening, molecular genetic, and cytogenetic testing. The goal of this study was to examine the association between diagnoses of congenital anomalies and specific genetic conditions in infants and PPD in their mothers. It was hypothesized that there would be a positive correlation. This was a retrospective study of data collected from Triad Adult and Pediatric Medicine (TAPM) clinics, and variables that were assessed included Edinburgh Postpartum Depression Screen (EDPS) scores, presence of congenital anomalies/genetic conditions (ICD-9 codes), language of screen completion, maternal age, gravidity and parity, whether infants were cared for in neonatal intensive care units (NICUs), whether mothers were referred to social work, and whether Tots of Teens (TOTs), a program that provides additional services to teenage mothers and their children, evaluated mothers and infants. There was a significant difference in the rates of PPD between mothers of infants with congenital anomalies and/or specific genetic diagnoses and mothers whose infants did not have congenital anomalies and/or specific genetic diagnoses, with the former group having almost twice the rates of PPD as the latter group. These results indicate that having an infant with a congenital anomaly or genetic condition may be a risk factor for experiencing PPD. Observations that were noteworthy but not statistically significant included teenage pregnancy, low gravidity and parity, and completing a PPD screen in English rather than Spanish being associated with higher incidences of PPD.
Class of 2011
Assessment and Resource Development for the NC Neurofibromatosis Support Group By Amy Furches Blevins
Background: The purpose of this study was to determine, with the use of a needs assessment survey, the support needs of individuals in North Carolina with neurofibromatosis (NF) and their family members. Methods: Participants were recruited through e-mails sent to members of the Children’s Tumor Foundation and NF Inc., and at a NF symposium at Duke University. Results: The majority of participants indicated that they would be interested in attending face-to-face meetings of the group. Participants showed interest in resources such as educational and developmental resources, activities such as NF conferences and symposiums, and small group discussions. They were also interested receiving advice from other parents and discussion of certain topics such as research updates and coping with NF. Conclusions: By analyzing the data that was obtained from the needs assessment, interviewing leaders from CTF and NF Inc. and reviewing the literature on group implementation and maintenance, recommendations were made for development of the NC NF support group.
Cutaneous Melanoma Risk Factors and Risk Perceptions: A Comparison between Positive Family History and Negative Family History Melanoma Patients. By Jessica Bogacik
Background: Skin cancer is the most common cancer in the United States. Cutaneous malignant melanoma is a less common form of skin cancer, but a more severe form, resulting in the most skin cancer deaths. Approximately 5-10% of all melanoma cases are hereditary. The most significant risk factor for melanoma is a positive family history. Although family history is the greatest risk factor, little research has previously been done to assess the level of importance that patients place on history. This study investigates the knowledge that patients have about the general risk factors for cutaneous melanoma and assesses the extent to which patients with melanoma view family history as a risk factor. Two populations, melanoma patients with a positive family history and melanoma patients without a positive family history, are compared. It is hypothesized that these two groups will view melanoma differently and will have different risk perceptions of the disease. Methods: The sample was comprised of Duke Dermatology participants diagnosed with melanoma. Fourteen participants filled out a demographic survey and completed a follow-up phone interview. Through the use of phone interviews, this study was mostly qualitative in design. Questions elicited information on knowledge about melanoma, health-related behaviors, sun-protective behaviors, risk perceptions of susceptibly to melanoma and severity of melanoma, potential barriers and benefits of screening, genetic testing, and genetic counseling. Several previously validated scales were employed to increase the strength and reliability of this study. Descriptive and inferential statistics were computed, and content analysis was performed on open-ended responses to uncover emerging themes. Results: Results showed differences in perceptions, most notably in viewing family history as a significant risk factor. In addition, the majority expressed interest in genetic counseling and genetic testing, illustrating the growing need for genetic services.
Development of an Interview Guide to Assess Parental Disclosure of a 22q11 Deletion Syndrome Diagnosis to the Child as well as Informational and Support Needs. By Dana Faux
Background: A microdeletion on chromosome 22 at position q11.2 is responsible for over 180 clinical features, and is often known as 22q11 deletion syndrome (22q11DS), or Velo-cardio-facial syndrome (VCFS), among other names. A variety of factors may shape how and when parents decide to disclose a diagnosis of 22q11DS to others, including the affected child. There are currently no publications regarding disclosure of a 22q11DS diagnosis to the child, what variables may influence this process, and what support caregivers may require for successful disclosure. The goal of this study was to design an interview guide to examine caregiver experience of informing children and others of the diagnosis. The guide aimed to provide insight into decisions regarding how and when information is shared. Methods: Eight semi-structured interviews were conducted with primary caregivers of children between 10 and 17 years of age diagnosed with 22q11DS. Results: Participants reported sharing information about the diagnosis with their families, school personnel, close friends, or others who they felt needed or deserved to know. Six out of eight participants had disclosed the diagnosis to the child by the time of interview. Those who had not informed the child were uncertain about what words to use, unsure about how to approach the conversation, or concerned about the child’s lack of understanding. After each interview, the guide was adjusted for future use. Conclusions: It is hoped that this tool will be helpful in eliciting how professionals may better assist caregivers in the process of disclosure.
Increasing Undergraduate Student Awareness of Genetic Counseling as a Career Choice. By Melanie Hardy
Background: Undergraduates pursuing health careers and their health career advisors (HCA) have limited exposure to the genetic counseling profession. Recruitment methods that demonstrate tasks and provide demographics of the profession can increase awareness and interest in genetic counseling as a career choice. Hypothesis: Students and HCAs who view an interactive, case-based learning module about genetic counseling will report an increase in knowledge and awareness of the profession. Methods: An interactive, case-based web module was developed that described a counseling session with a woman diagnosed with breast cancer. At several points, viewers were asked to choose the most appropriate approach to proceed through the case. Embedded links allowed viewers to obtain additional information about the case and the profession. Undergraduate biology students were recruited from five universities in NC. HCAs were recruited via a national listserve. Pre- and post-viewing surveys measured participants’ self-assessed awareness and knowledge of genetic counseling and interest in pursuing or recommending it as a career. Results: The majority of students (n = 100) were biology majors (83%) considering a health care career (76%). They showed significant increases in self-reported ability to describe the tasks of a genetic counselor (p < 0.001) and the likelihood of pursuing a career in genetic counseling (p = 0.022). They rated the effectiveness of the module as a learning tool about the genetic counseling profession at 4.38 on a 5-point scale. HCAs (n = 50) reported significant increases in familiarity with genetic counseling and their ability to describe genetic counseling tasks (p < 0.001). Conclusions: The case-based web module was an effective tool for increasing awareness, knowledge, and interest in genetic counseling among both undergraduate students and HCAs.
Descriptive Life Experiences of Adults with Myelomeningocele By Kelly McMahon
Background: This study evaluated the life experiences of 70 adults age 25 years and older with myelomeningocele (MMC). While many studies have looked at the impact of MMC on the lives of children and young adults, little is known about the impact of MMC on the life experiences of adults. To our knowledge, this is the first descriptive study on adults of this age group with MMC. Methods: A multiple-choice questionnaire along with open-ended questions was used. The questionnaire consisted of a previously validated quality of life survey (LISAT-11) and additional detailed items eliciting specific information about education, employment, relationships, and reproduction. Results: Participants were 25-80 years old (mean age 37). The majority of participants were white, female, had hydrocephalus, bowel and bladder incontinence, and required assistive devices or a wheelchair for mobility. Most were in a typical education setting and completed an education level beyond high school. Half of participants were currently employed in paid positions, though salaries were below average incomes in the general population. Most participants required assistance with living and have never had a serious partner or spouse. Twelve participants had biologic children. There was a relatively high self-reported quality of life. Self-care and family life were rated the highest in terms of satisfaction and partnership relationships, financial situation, and vocational situation were rated the lowest. Correlations were made between participant characteristics and satisfaction or dissatisfaction with quality of life domains. Conclusion: The results of this study provide information for parents and health care providers about long-term outcomes for individuals with MMC. This information is important for parents and individuals with MMC in developing realistic goals as they transition into adulthood.
Knowledge and Attitudes of Pharmacists on Pharmacogenetics By Michael Osborne
Background: The incorporation of pharmacogenetics in the medical field is expected to cause a rapid evolution in the delivery of services by all health care professionals in the near future. Although many health care professionals have begun to predict the implications of pharmacogenetics on their practice, no national study has yet to address which health care professional(s) should be responsible for translating pharmacogenetic information into the routine health care management of their patients. Studies have also suggested that genetic and pharmacogenetic education in Colleges and Schools of Pharmacy is inadequate. Purpose: The purpose of the present study is to (a) indicate the current knowledge level of pharmacists in the area of genetics and pharmacogenetic testing; (b) assess the attitudes of pharmacists toward pharmacogenetic testing, and; (c) obtain the pharmacists’ perspective on the role various health care professionals, including genetic counselors, should play in pharmacogenetic testing. Methods: Members of the American Society of Health-System Pharmacists (ASHP) Section of Clinical Specialists were sent an anonymous, online survey. Results: Ninety-three pharmacists completed the survey. Results suggested that pharmacists are most likely to refer a patient undergoing pharmacogenetic testing to another pharmacist, a primary care physician, or a genetic counselor. Attitudes towards the inclusion of genetic counselors in pharmacogenetic testing were overall positive, with less than 20% of pharmacists indicating that they were uncomfortable or unlikely to utilize the services of a genetic counselor. On a scale of 1 to 100, the average score for the knowledge based questions was 69.55. Conclusion: The present study suggests that pharmacists may desire interaction with genetic counselors for their patients that undergo pharmacogenetic testing. Genetic counselors should provide education to pharmacists about genetics and pharmacogenetics, the services provided by genetic counselors, and the logistics involved in making a referral to a genetic counselor.
Public Health Genetic Counselors: Roles, Knowledge, Skills and Where to Learn. By Mallory Schultz
Background: Recent data show that genetic counselors are working in public health roles. However, these data only indicate the genetic counselors whose primary role is public health. Genetic counselors may participate in public health activities but not consider themselves a public health genetic counselor, or realize that the activity relates to public health. The goals of this study were to determine the number of genetic counselors engaging in public health activities, the skills being used in those activities, and where skills were learned. Methods: A novel survey was developed to assess respondents’ participation across five categories of public health: population-based screening programs, education of the public and/or health care professionals, research, lobbying/public policy and state chronic disease programs. Results: Participants reported working in all five categories of public health. A majority reported activities in education and screening. Eighty four percent of participants (n=131) reported spending 0- 40% of their working hours in public health activities. Participants most commonly reported learning skills “on the job” and in genetic counseling training programs. Conclusion: Genetic counselors have a skill set that allows them to participate in many areas of healthcare, including public health. This skill set is developed in genetic counseling training programs and broadened “on the job.”
Impact of EGAPP Recommendations for Colorectal Cancer Genetic Testing On Genetic Counseling Sessions. By Emily Walsh
Background: The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group (2009) suggests that there is sufficient evidence to warrant genetic testing for Lynch syndrome for all individuals newly diagnosed with colorectal cancer (CRC). This study assessed the impact of these EGAPP recommendations by examining 1) cancer genetic counselors’ familiarity with current EGAPP recommendations, 2) the proportion of institutions that have altered their policies to conform to EGAPP recommendations, and 3) the impact of changes in protocol on genetic counseling services these recommendations have had. Methods: Data was collected using an online survey sent to cancer genetic counselors through the National Society of Genetic Counselors main listserve and the Cancer Special Interest Group listserve. Results: The overall response rate for the survey was 17%. Of the sample population, 91% was familiar with EGAPP guidelines regarding colon cancer tumor testing, and approximately 35% of institutions at which participants practice have implemented these guidelines. The most commonly reported protocol for colon cancer tumor testing was ordering IHC and MSI together, followed by gene testing if indicated. This was also the most preferred protocol among participants who were dissatisfied with their institution’s protocol. In comparison to 2008, participants whose institutions follow EGAPP guidelines reported significantly more colon cancer patient referrals per week than those whose institutions do not follow EGAPP guidelines (p=0.015), and these institutions have not added additional genetic counselors to accommodate the increased patient load. Participants reported that they had sufficient time for genetic counseling sessions, and generally reported positive attitudes towards EGAPP guidelines.
Class of 2010
Conceptualizations of “Genetic Disease’ Among Undergraduates: How Common are Beliefs in Genetic Exceptionalism, Really? By Deanne Alexis Carrere
Background: Despite a lack of consensus regarding the definition of “genetic disease,” there exists a tendency to label genetic conditions as special, requiring unique primary care and public health attention. Often, this notion rests on the theory of genetic exceptionalism, the controversial idea that in a meaningful way, genetic information is distinct from other medical information. This project aimed to investigate laypersons’ beliefs about genetic disease and genetic exceptionalism, and to assess the impact of a genetics literacy intervention. Methods: A pre-experimental, one-group matched design was used. Identical pre- and post-surveys containing three sections (Demographics, Genetics Literacy, and Applied Scenarios) were administered to students of GN 301 (Genetics in Human Affairs) at North Carolina State University. An online survey to elicit qualitative data was administered following completion of the course. Results: In total, 103 pre- and post-surveys were matched, and 36 online surveys were completed, for response rates of 41% and 14%, respectively. Genetics literacy was high on the pre-survey but increased significantly on the post-survey. Inheritance and causation were identified as the most important factors in determining disease classification. Participants saw a distinction between genetic and infectious diseases with respect to public health approaches but felt that all medical information should be highly protected. A tension identified was the fact that genetic information can be both probabilistic and uniquely definitive. Asked directly about genetic exceptionalism, close to 50% of participants agreed with this theory on both surveys. Conclusions: The impact of the genetics literacy intervention could not be assessed due to the high baseline level of genetics literacy. Distinctions made between genetic and non-genetic disease and medical information did not always have practical implications. Future studies would benefit from studying populations with lower genetics literacy and refining the survey to assess more effectively participants’ complex beliefs.
North Carolina Primary Care Providers Awareness, Perceptions, Experience and use of Direct-To-Consumer Genetic Tests. By Whitney Cogswell
Background: Direct-to-consumer (DTC) genetic testing is a new development that offers consumers the opportunity to purchase genetic testing over the internet without consulting a health care professional. Little is known about primary care providers’ attitudes about DTC testing or their interactions with patients who have had or are considering DTC genetic testing. The goal of this study was to explore physician awareness, experience with patients, opinions, and preparedness surrounding DTC genetic testing to ascertain their educational needs. Methods: A survey was created consisting of 28 multiple choice and 2 scalable questions. The survey was mailed to 2,402 internists and family practice physicians on membership lists created by the North Carolina Medical Society. The survey was followed up by a reminder postcard and a reminder survey at three week intervals. Results: The study found that 38.5% of responding physicians were aware of DTC genetic testing. Of these, 19.5% had a patient either ask a question about or bring in results from DTC genetic testing. Among physicians who were aware, 41.4% think that testing is clinically useful. Additionally, 14.5% felt prepared to answer questions about DTC genetic testing, and 73.4% desired to learn more. Conclusions: Less than half of NC PCPs were aware of DTC genetic testing, and very few have had experience with it during patient care. NC PCPs are unsure of the clinical utility of DTC genetic testing and would find medical management guidelines concerning DTC genetic testing useful. Additionally, while many physicians felt they were prepared to answer questions about DTC genetic testing, they still desire to learn more about it.
Talking to Those Who Have Been There: Identifying Barriers to Adult Health Care for Individuals with Phenylketonuria. By Kristen Cornell
Transitioning adolescents with chronic conditions into adult health care has received increased attention in recent years. A multidisciplinary collaboration at the University of North Carolina at Chapel Hill is working to establish an effective transition protocol aimed at addressing the unique adult needs of patients with phenylketonuria (PKU). There is a lack of published transition protocols and primary research into barriers to adult health care for this patient population. This study was designed to identify factors that may be limiting access to adult health care for adults with PKU. Eligible participants were patients with PKU followed by UNC Pediatric Genetics and Metabolism between the ages of 18 and 35. A telephone survey was developed to understand patients’ general knowledge of PKU, and the challenges they face with diet adherence, use of primary care physicians, use of the metabolic clinic, ability to access medical services, and their use of support systems. Twelve of the fifty-two eligible patients enrolled in the study. These participants were diagnosed through newborn screening, were generally well-educated, following a low-phenylalanine diet, and had good understanding of PKU. While almost all had health insurance, some did not have coverage for their PKU-related health needs or expressed anxiety about health insurance in general. Many participants currently lack a primary care physician and felt displaced in a pediatric metabolic clinic as adults. Online resources were the primary source of new information about PKU. Camps and other events for individuals with PKU were utilized for support. These data may be used to establish a pilot transition protocol for adolescents with PKU, which could include discussions focusing on the importance of the metabolic clinic for adults, change in clinic location for adults with PKU, and an attempt to give patients with PKU more information about health insurance. Modifying this protocol to address the needs of patients with other metabolic conditions seen at UNC may also be possible. Additionally, these findings may be further extended to other health care professionals looking to establish transition protocols for their patients with special health care needs.
Evaluation of Biotech 101: An Educational Outreach Program in Genetics and Biotechnology. By Kelly M East
Background: Recent advances in research and biotechnology are making genetics and genomics increasingly relevant to the lives and health of the general public. However, literature has shown a low level of genetic literacy among both the general public and healthcare professionals. For the public to make informed healthcare decisions and participate fully in policy decisions relating to genetic information there is a need for increased genetic literacy. It was with this goal in mind that the Biotech 101 program was created by the Educational Outreach Department at the HudsonAlpha Institute for Biotechnology. The purpose of this study was to evaluate the effectiveness of Biotech 101 in achieving its goal of increasing the genetic literacy of program participants. Methods: Biotech 101 is a five-week educational outreach course for the general public, held on five consecutive Tuesday evenings, introducing participants to topics in genetics, genomics, and biotechnology. Program participants completed pre-test and posttest surveys consisting of both quantitative and qualitative questions. Increase in genetic literacy was measured by the change in self-perceived knowledge regarding topics covered through the course. Results: A total of 392 individuals have attended Biotech 101. Most participants chose to attend to increase their knowledge of genetics, biotechnology, and HudsonAlpha. Participants reported a significant increase in self-perceived knowledge in each content area, as well as an impact on their everyday lives and decisions. Qualitative responses expressed widespread appreciation towards HA for offering the course, as well as highlighted areas for improvement. Discussion: The results of this study will be used by the HudsonAlpha team for the development of future educational programming. In addition, the information can be used as a model for others in the genetic counseling and health education communities in the development and evaluation of similar programs.
Genetic Counseling Inter-personal and Intra-personal Individual Variability in Risk Assessment and Prediction of BRCA1 and BRCA2 Mutations. By Courtney McGuire
Background Genetic testing for BRCA1 and BRCA2 mutations has been available clinically since 1996 (Iglehart et al, 1998). This is useful in determining if individuals are at an increased risk of developing breast and ovarian cancer. Genetic counselors are often responsible for estimating a client’s risk of carrying a BRCA mutation to determine if genetic testing is recommended. A tool available to help identify individuals who might benefit from testing is BRCAPRO (Euhus, 2004). However, counselors do not always use such computer models; instead they may rely on their own personal experience when assessing a client’s risk. The purpose of this study was to evaluate cancer genetic counselors’ risk estimations of a hypothetical client to determine how counselors’ estimates compare to BRCAPRO, to other counselors, and to themselves over time. Methods At two different time points, cancer genetic counselors completed the study survey, which consisted of ten pedigrees comparable to those seen in a cancer genetics clinic. The counselors evaluated the pedigrees and assigned a risk estimate to the indicated proband. These risk estimates were analyzed to determine if there was significant variability. Results The risk values generated by participants showed considerable inter-personal variability. When compared to BRCAPRO, counselors’ risk estimates were significantly different (p<0.05) in eleven out of the thirteen risk assessments. However, the average of the counselors’ risk estimates between the two time points was not significantly different. Conclusions The results of the study indicate that there is significant inter-personal variability among counselors’ risk estimates when presented with the same pedigree. There is not significant intra-personal variability over time. In the majority of cases counselors’ risk estimates varied significantly from the risk generated by BRCAPRO. In some instances the counselors’ risk estimates may be a more appropriate reflection of the client’s true risk given the limitations of BRCAPO.
Factors Influencing Patient Decisions to Decline Prenatal Genetic Counseling: A Pilot Study. By Theresa Mihalic
No studies to date have explored reasons why patients referred for prenatal genetic counseling (GC) would decline this service. The goal of this study was to pilot test a survey designed to elicit factors that influence patients to decline prenatal GC at the University of North Carolina at Chapel Hill (UNC). Patients who declined prenatal GC from January to April 2010 at UNC were mailed a survey to complete and return. Patients who planned to attend their prenatal GC appointment were matched by referral indication and identified as a control population. A total of 6 decline and 5 control participants returned the survey, for a response rate of 30% and 25% respectively. Survey responses were tabulated as preliminary descriptive data. Preliminary data suggests that patients who decline prenatal GC may have a lack of understanding about GC, misconceptions about GC or what is discussed during a GC session, or different health beliefs than those patients who do not decline their prenatal GC appointment.
It was anticipated that the results of this study would identify factors that may influence patients to decline genetic counseling, so that strategies to overcome these factors can be explored.
The Relationship Between Nuchal Fold Measurement and Ethnicity. By Holly Taylor
Background: The literature shows that various sonographic markers for chromosome abnormalities such as echogenic intracardiac focus, femur and humerus lengths, as well as maternal biochemical markers vary according to ethnicity. Methods: This project included a retrospective and prospective query of an ultrasound database for all patients with known ethnicity who were seen for second trimester ultrasound examinations between 15 weeks and 21 weeks and 6 days gestation at the University of North Carolina Women’s Hospital from January 2000 through February 2010. Ultrasounds of fetuses with an increased nuchal fold measurement (>5 mm) were reviewed for additional ultrasound markers and fetal structural anomalies. Results: A total of 12,826 records were identified as meeting study criteria. Of those, 2.7% (348) had increased nuchal fold measurements. Of those with an increased nuchal fold measurement, 37.8% also had additional ultrasound findings. Increased nuchal fold measurements were more common in the Hispanic population (3.7%) and the Native American population (6.9%) than the Caucasian population (2.2%) (p<0.05). For all gestational ages, the mean nuchal fold measurement was larger in the Hispanic population than in the Caucasian population (p<0.01). Differences in average nuchal fold measurement were also noted in African American, Asian, and Native American populations compared to the average nuchal fold measurement of the Caucasian population. Conclusion: There are differences in average nuchal fold measurements during the second trimester of pregnancy among patients of various ethnicities referred to the Women’s Hospital of North Carolina.
Pregnancy Outcomes in Survivors of Abdominal Wall Defects. By Brooke Rush
Background: There are an increasing number of survivors of congenital abdominal wall defects (AWDs) reaching reproductive age. Currently, there is no published information regarding pregnancy outcomes in this population. The purpose of this study is to expand the current knowledge on pregnancy outcomes in patients born with an AWD. Methods: A survey was designed to collect information regarding demographic data, pregnancy outcomes and individual fears and concerns regarding pregnancy in a group of AWD survivors. This survey was made available to adult, female survivors of AWDs via five on-line support groups and discussion boards. Data was collected over a period of three months and compared across total populations as well as between types of AWD or repair types. Results: A total of 34 surveys were used in data analysis. Of these, 13 women reported a total of 16 live births and 13 pregnancy losses. Rates of Cesarean delivery were comparable to the general population. Incidence of preterm birth was 31.3% in this population, but none of the neonates were less than 10th percentile body weight for gestational age. Respondents with omphalocele generally reported fewer pregnancy complications. There were no incidences of preterm labor or pregnancy complications reported in respondents with initial repair by silo. Respondents with fewer medical complications as children tend to have fewer pregnancy complications or preterm births. Conclusion: Overall, pregnancy outcomes in survivors of AWD are favorable. This study should provide guidance for physicians and genetic counselors educating patients
Class of 2009
Informational and Logistical Needs of Women with BRCA Mutations Post-Results Disclosure. By Angie Anido
Genetic testing for mutations
in the BRCA1 and BRCA2 breast and ovarian cancer associated genes is widely
available in the United States. These mutations greatly increase the risk
of early onset breast cancer (50-80% lifetime risk) and ovarian cancer (15-45%
lifetime risk). As such, there are several medical management and
surveillance recommendations that are given to women who carry a mutation to
achieve early cancer detection and/or prevention. For women whose genetic
testing is facilitated by a cancer genetics specialist, they typically return
to their managing/treating physicians for coordination of the high-risk
management recommendations. At present there is limited information regarding
how easy it is for women to comply with the high risk recommendations or what
informational support needs they have post-results disclosure.
The goal of the project was to assess the post-results disclosure informational and logistical needs of women who have a BRCA mutation to better support this population. The participants completed a questionnaire that was developed specifically for this study at the beginning of the focus group session. The focus group discussion immediately followed completion of the questionnaire. The focus group was audio taped in order to allow for data analysis at a later date, not as part of this project.
The results indicated that the participants were receiving appropriate medical management. They felt that the specialized physicians that they discussed their results with were very knowledgeable about the recommendations. However, the more general physicians varied greatly on the knowledge of the high-risk medical management recommendations.
Overall, it appears that individuals who receive genetic counseling with their BRCA testing are aware of the recommendations and are able to carry them out. Individuals who have had cancer are more likely to be familiar with the specialized physicians and go to them for recommendations and management. General practitioners are, in general, less knowledgeable about the management recommendations for high-risk individuals. Genetic counselors can act as advocates for their patients, providing education for practitioners in their area.
Practice Patterns of Obstetricians and Gynecologists in North Carolina Regarding Screening and Testing for Aneuploidy. By Lori Carpenter
Prenatal screening and
diagnostic testing are ways of identifying fetuses at an increased risk for or
who have a genetic condition. Recent recommendations published by the American
College of Obstetricians and Gynecologists (ACOG) in January of 2007 updated
the previous guidelines, now supporting prenatal screening and diagnostic
testing being offered to all pregnant women, regardless of age. In addition, a
number of new screening options have become available in recent years. Now
there are more screening tests available for patients and their providers. We
undertook this study to identify the prenatal screening and diagnostic testing
practices of obstetricians in North Carolina to evaluate if the new ACOG
Practice Bulletins have resulted in changes in practice.
A total of 1,033 surveys were sent to obstetrician-gynecologists currently licensed to practice in North Carolina by email (649) or standard mail (384). The overall response rate was 17.4%. The survey included questions about demographics, which testing options are offered, to whom the tests are offered, what indications warrant a referral for a genetics consult, and established policies. Results indicate that the majority (85.4%) of obstetrician-gynecologists are offering screening to women of all ages and 61% are offering diagnostic testing to women of all ages. However, a variety of screening and testing strategies were reported and described. This suggests that while the majority are following the recommended ACOG guidelines, there are significant differences between practices regarding which screening strategies are employed and to whom. Therefore, it may be beneficial to consider efforts directed towards consistency in the practice of prenatal screening in the state of North Carolina.
A Survey of Patient Goals and Outcomes in the Adult Genetic Counseling Session. By Katie Farmer
The field of genetic counseling is expanding into broader areas of health care including specialty clinics and general health care. The majority of patients that stand to benefit from this expansion are adults. The purpose of this study was to determine what expectations patients had when attending an adult genetic counseling clinic. Of particular interest, were patients’ main goals for the session, whether or not these goals were met, and if any unanticipated topics were discussed and/or outcomes reached. This information was gathered via a qualitative telephone survey completed shortly after the participant’s genetic counseling session. A total of ten interviews were completed. Four main categories of patient goals were identified: (1) concern for the possible impact of a particular genetic condition on other family members, (2) making a new diagnosis, (3) clarifying a previously made diagnosis, and (4) receiving updated information about a diagnosis and its medical implications. A major finding of the study was that many patients were not well informed of the reason they were being referred to a genetics clinic or how best to prepare for the appointment. A genetic counseling information sheet has been developed. This educational tool should allow patients to be more prepared for their genetic counseling session and thus potentially increase the benefit to the patient. Despite this finding, the majority of participants stated that their goals for the appointment were met and all participants reported that they were satisfied with their genetic counseling session. One limitation of this study was the small sample size. It is recommended that future studies focus on the psychosocial needs of the adult genetic counseling population.
Follow-up Support: How State-Level Newborn Screening Programs Educate the Parents of Newborns Identified as Carriers of Cystic Fibrosis. By Kate Major
A guiding principle in the history of newborn screening (NBS) is to ensure that the costs of screening are outweighed by the benefits. NBS for Cystic fibrosis (CF) has potential risks largely associated with the identification of CF carriers. These risks include loss of individuals’ rights to choose whether to pursue carrier testing for themselves, and anxiety felt by parents of carriers about the health and futures of their children. As North Carolina implements NBS for CF, efforts have been made to minimize these risks by using an educational tool and making a detailed follow-up plan for families of identified carriers. One way to assist in these efforts is to learn from the experiences of other states using CF NBS methods that identify carriers. The purpose of this study was to use semi-structured phone interviews with newborn screening program representatives in these states to gain insight into current standards of practice, and to make recommendations to the state of North Carolina as to how to optimize their resources for carrier follow-up and education. The results of this study show that North Carolina’s plan for CF carrier education and follow-up are consistent with standard practice in other states. Recommendations based on participants’ responses include empowering primary care providers, recognizing the limitations of readability assessments, using culturally as well as linguistically appropriate educational tools, planning for the systematic evaluation of educational tools, and tracking the uptake of genetic counseling services.
Prevalence of Major Aneuploidy Markers for Down Syndrome in the Hispanic Population. By Lindsay Presley
In recent years, absent/hypoplastic fetal nasal bone has been shown to be an important marker for fetal aneuploidy in Caucasian, Asian and African-American patients. However, few studies have focused on the significance of this marker for aneuploidy in the Hispanic population. Additionally, few studies have looked at the effects of ethnicity on nuchal fold size and aneuploidy risk assessment. Anecdotal reports indicated that both of these markers appear to be associated with a lower risk for aneuploidy in Hispanic patients than what is currently reported in the literature for other ethnicities. This study was used to help to determine the significance of absent/hypoplastic nasal bone and increased nuchal fold as predictors of chromosome abnormalities in the local Hispanic population. This is a retrospective chart review of women undergoing an anatomy ultrasound for various indications (advanced maternal age, abnormal maternal serum screening, and routine dating/anatomy scan), during the second trimester of pregnancy. The fetal nasal bone and nuchal fold size for each fetus was reviewed from an ultrasound database, ASOBGYN, and by chart review at the Comprehensive Fetal Care Center of Wake Forest University Baptist Medical Center for all Hispanic fetuses seen from June 1, 2006-September 30. 2002 Hispanic patients were found, and 17 (0.85%) of these patients had increased nuchal fold or hypoplastic/absent nasal bone. 5 of 17 (29%) had hypoplastic or absent nasal bone and 12 of 17 (71%) had increased nuchal fold. Of these, 0 out of 13 (0%) patients showed physical features of Down syndrome at birth and 12 out of 13 (92%) had a normal newborn exam. Only one patient of the 13 (7.6%) eligible participants had an abnormal newborn exam. Three participants were lost to follow up and one patient had a termination of pregnancy due to multiple anomalies. This information can be used to determine accurate likelihood ratios for the Hispanic population regarding these markers and help genetic professionals give appropriate risk assessments to families.
Development of a Genetic Counseling Career Assessment Tool: Finding the Right Fit. By Diana Smith
The genetic counseling profession is growing and expanding into distinct specialty areas similar to that of physicians, but has not seen the direct benefits of career assessment tests within the field. The purpose of this study was to adapt an existing career assessment tool for use by genetic counselors using the Career Pathways Evaluation Program: 2002 Pharmacist Profile Survey article as a model (Schommer, Brown, Millonig, & Sogol, 2003). A set of critical factors modified for relevance to genetic counseling was used to assess job satisfaction and to create a job description, termed a professional profile. Participants first identified their position according to a primary role (Clinical, Non-clinical, Research or Other) and then into a sub-specialty practice within each primary role. The anonymous, on-line survey was distributed to all full members of the National Society of Genetic Counselors (NSGC) via a website link attached within an email notice from the NSGC. It was hypothesized that some unique critical factors would be associated with each genetic counseling primary role and specialty area. Independent samples t-test revealed 18 of 37 total critical factors to have significant differences in job satisfaction and 11 of 38 total critical factors to have significant differences in tasks between the Clinical group and a condensed Non-clinical group. Trends were also noted within the Clinical sub-specialty group, but were not statistically significant due to small sample size. Given these preliminary findings, further research is suggested to accomplish the long-term goal of creating a career assessment tool that would enable a genetic counseling student or current professional to match his or her personal values to a corresponding genetic counseling position, or in other words, to find the right fit.
Genetic Counselors’ Knowledge and Utilization of the Implications of the Cognitive and Behavioral Phenotype of Fragile X Syndrome. By Asheley Supik
The behavioral and cognitive phenotypes of Fragile X syndrome have been well characterized. However, there is little information about genetic counselors’ knowledge of the details of these phenotypes, the implications that the phenotypes have for affected families, and if this information is addressed by genetic counselors with families of patients who receive a diagnosis of Fragile X syndrome. This study surveyed pediatric genetic counselors to assess their knowledge of the interventions implicated by the behavioral and cognitive phenotypes of Fragile X syndrome and the frequency with which they discuss this information with families receiving a diagnosis of Fragile X syndrome. This study also assessed genetic counselors perceptions of the relevance and utility of this information and barriers to addressing this information with families. Many of the participants indicated that they discussed the information about the interventions indicated by the cognitive and behavioral features of Fragile X syndrome with parents of affected children, and participants generally perceived this information to be relevant to the practice of genetic counseling. However, participants overall scored low on the knowledge assessment. These results indicate a need for educational resources for genetic counselors and patient education materials for parents and caregivers of children with Fragile X syndrome.
Development of a Resource for Genetic Counselors Addressing Guidelines and Ethical Issues in Genetics Research. By Tomi Toler
The history of human subjects research has been examined extensively in the literature, and much of the conversation, while not specific to genetics, is important for genetic counselors to know. A synthesis of the literature regarding the history of human subjects research, subsequent research reforms, current rules and regulations, the institutional review board, ethical issues specific to genetics research, and the future of genetics research was completed. Four common genetics research issues are discussed, including information databases, stored samples, recruiting of relatives and incidental findings and these were evaluated. Using the information obtained, a resource for genetic counselors was created that summarizes the information in an easy question-and-answer format so that information that would be beneficial to genetic counselors would be easy to find. Recommendations for distribution of the resource, “A Guide to the Basics of Human Subjects Research in Genetics,” are made.
Class of 2008
Multiple Role Relationships in the Training of Genetic Counseling Students. By Leah Betman
relationship is a complex issue that has been explored in psychology and
counseling training programs. Current literature suggests that there are
serious consequences of multiple relationships in supervision. However,
little research has been conducted on this issue in the genetic counseling
field. This study explored the perspectives of genetic counseling
training program directors about the potential for multiple role relationships
between students and program directors, faculty members and clinical
supervisors. Program directors of 30 genetic counseling training programs
in the United States and Canada were extended an offer to participate in the
online survey. Nineteen (67%) program directors responded to the survey.
The online, anonymous survey presented questions regarding types of
relationships engaged in, the conflicts presented by the relationships,
potential strategies for resolving the conflicts, and potential interactions
between relationships. Program directors, clinical supervisors, and
non-clinical faculty were all reported to have at least one additional
relationship to the primary relationship with students. Most respondents
indicated that there were little perceived conflicts between program directors
and non-clinical faculty regarding multiple relationships with students.
More respondents indicated that there were conflicts regarding multiple
relationships between clinical supervisors and students. The results showed
that there was a higher potential for multiple relationship conflicts involving
clinical supervisors and students, especially if there was a social
relationship involved. The results indicated that program directors felt
that the issue of multiple relationships in genetic counseling was an important
one for discussion, but not all programs provide training regarding multiple
relationships to students, non-clinical faculty, and clinical
supervisors. The results of this study can provide information regarding
development of educational materials for genetic counseling training programs
regarding the issue of multiple relationships between students, program
directors, clinical supervisors, and non-clinical faculty.
Genetic Counseling Interpersonal and Intrapersonal Individual Variability in Risk Assessment and Prediction of BRCA1 and BRCA2 Mutations. By Claire Healy
Background: For the small subset of individuals who test positive for a BRCA1 or BRCA2 mutation the information can have far reaching implications for their health and health management, (deBock et al., 1999 & Euhus et al., 2002). Genetic counselors are often responsible for estimating a client’s risk of harboring a BRCA mutation to determine if they should undergo genetic testing. One tool available to genetic counselors to help them identify those individuals who would benefit from genetic testing is the computer algorithm BRCAPRO (Euhus, 2004). In many instances counselors do not use an algorithm like BRCAPRO and instead rely on their own personal experience when assessing a client’s risk. Purpose: The purpose of this study was to evaluate cancer genetic counselors’ risk estimations of a hypothetical client in order to determine how counselors’ estimates compare to the computer algorithm BRCAPRO. Methods: Fifty-three cancer genetic counselors performed thirteen risk assessments on ten pedigrees, typical of those seen in a cancer genetics clinic, free of outside resources and then assigned a risk estimate to the indicated proband. These risk estimates were compared among counselors and with the risk value generated by BRCAPRO to determine if there was significant variability. Results: The risk values generated by the fifty-three participants showed considerable interpersonal variability. When compared to BRCAPRO, counselors’ risk estimations were significantly different (p<0.05) in seven out of the thirteen risk assessments. Conclusions: The results of the study indicate that there is significant interpersonal variability among counselors’ risk estimation. In the majority of cases counselors’ risk estimates varied significantly from the risk generated by BRCAPRO. However, in some instances the counselors’ risk estimations may be a more appropriate reflection of the proband’s true risk given the inherent limitations of BRCAPRO.
The Student Perspective of
Clinical Supervision for the Training of Genetic Counselors. By
This project was designed to understand the genetic counseling students’ perspective of their clinical supervision experience, an aspect of the training of genetic counselors which has been largely unstudied to date. Using results from a previous study as well as items on Evaluation Process within Supervision Inventory (EPSI), a survey was designed to determine which aspects of clinical supervision had an impact on the supervision experience of genetic counseling graduates. The survey assessed specific supervisor behaviors, supervision process and structure, and supervisor/ supervisee feedback and goal setting. Respondents were asked to complete the survey in its entirety beginning by evaluating the supervisor they felt was their “best” supervisor and then by evaluating the supervisor they deemed their “worst” using identical survey items. Results were analyzed using paired t-tests to compare “best” and “worst” supervisors, and stepwise regression analysis was used to determine which aspects of clinical supervision had the greatest impact on the student’s perceived value of supervision. On all but two items of the 48 item survey, there were significant differences between best and worst supervisors. Supervision process, which included items on provision of feedback, had the greatest mean difference between best and worst supervisors, and was also predictive of overall best supervison value and overall worst supervision value. Other trends that may impact future research are discussed. The results of this study will be helpful in guiding the development of training curricula for the training of clinical supervisors in genetic counseling.
Determining the Level of Audience Interest in Journal Podcasting. By Tanya Lehfeldt
The Internet has become an excellent resource for professionals to stay up to date on new developments in their specialty and it continues to increase in popularity. The Internet has made podcasting one of the fastest growing Web based media resources. Podcasts are audio or video files that can be downloaded automatically and transferred to portable media players. Genetics in Medicine is a peer-reviewed journal that focuses on the clinical application of genetics. Few scientific journals produce podcasts and podcasting may be a novel way to disseminate each issue’s content. The purpose of this study was to determine if there is a need for a podcast of the journal Genetics in Medicine and to gain an understanding of what type of podcast the audience would expect. A survey about podcast interest and expectations was administered by email to current American College of Medical Genetics (ACMG) members. Overall, the results of this study yielded positive feedback for a podcast of Genetics in Medicine. In addition, the results of this study also supplied a greater understanding of the needs and desires of those interested in a podcast of Genetics in Medicine. Specifically, the results describe ACMG member preferences on the style and content of a prospective Genetics in Medicine podcast.
Methods of educating
Physicians About Uncommon Genetic Disorders: The Stickler Syndrome
Awareness Project. By Rachel Mills
Stickler syndrome is an autosomal recessive connective tissues disorder. Due to the somewhat recent description and ongoing gene identification, as well as phenotypic variability and low prevalence, Stickler syndrome commonly goes undiagnosed. Without a diagnosis, individuals may be unable to utilize or acquire necessary services and treatments. Stickler Involved People (SIP) is an advocacy organization for Stickler syndrome that has recently expanded their objectives to include physician education. The primary objective for this project is to develop a strategy to inform primary care physicians of features and symptoms of a rare genetic disorder, like Stickler syndrome, that advocacy organizations, like SIP, may use to help plan and implement effective methods of physician education. A second objective is to develop a plan for dissemination of educational information. Through literature review and discussions with representatives from advocacy organizations similar to SIP, recommendations for strategies and methods of educating physicians have been formulated. The information acquired and recommendations that are offered may be used to aid support organizations in improving their strategies of informing healthcare professionals about genetic disorders.
Knowing your “Beginnings” Make for Better “Endings”: Community Outreach and The Importance of Family Health History. By Jackie Powers
Background: The advent of genomic medicine requires educating the general public about the causation of complex disease, and importance of family health history (FHH). This study targeted the Guilford county community members to educate them about the importance of FHH. Methods: A 45 minute PowerPoint presentation was created based on a literature review of successful educational strategies and feedback received through a needs assessment conducted with community organization leaders. The presentation was delivered to four community groups in Guilford County. Pre/post tests were disseminated at each presentation to assess improvement in knowledge of the participant population, and were assessed through z- and t-tests. Quality and usefulness of the presentation was assessed by a satisfaction survey. Results: There were a total of 115 participants. Pre-tests found that participants had an understanding about the importance of, and what factors to include in an FHH. However, participants lack knowledge about questions pertaining to the 1. appropriateness of genetic testing, 2. current definition of genomic medicine, and 3. when to begin routine cancer screenings. The satisfaction survey indicated that participants approved of the simple flow of information and many expressed a plan to pursue recording FHH and lifestyle changes, such as diet, exercise, and smoking cessation. For future presentations more audience involvement and inclusion of Alzheimer’s disease would be most beneficial. Conclusions: Overall, the presentation served as a good tool in improving knowledge and educating the Guilford County Community about genomic medicine.
Patient Perceptions of Usefulness of Cancer Genetic Counseling Summary Letters. By Emily Rettner
Purpose: Assess patients’ perceptions of cancer genetic counseling (CGC) summary letters with respect to: readability, tailoring, letter style and length, perception of value and content, recollection of the genetic counseling session, and understanding of cancer genetics. Methods: Cross-sectional, self-administered survey designed to assess patients’ perceptions of the usefulness of CGC summary letters. Participants were CGC patients seen in 2007 at the Duke Hereditary Cancer Clinic who received a patient summary letter. Introductory letters and a questionnaire were mailed to participants; and three follow up phone calls were made to increase the response rate. Data collection occurred from February-March 2008. Frequencies of responses to survey items were determined using SPSS version 16.0. Results: Participants found summary letters to be easy to read, clearly written, of appropriate style and length, and useful in recalling cancer information and in making important decisions about cancer risk management. Letters were used to communicate cancer information and risks to relatives, and do not cause anxiety. We found that summary letters were not used to communicate with physicians. Conclusions: Cancer genetic counselors at the Duke Hereditary Cancer Clinic should continue to write letters of summary in the current style and format. With respect to contact with physicians, Duke caner genetic counselors should consider sending letters to such physicians and encouraging patients to be more proactive about presenting their letter to their physicians.
A Medical Records Review of Pregnancy Outcomes of Patients with Type I Gaucher Disease Either On or Off Enzyme Replacement Therapy. By Kate Watson
Introduction: Patients with Type I Gaucher disease may exhibit an exacerbation of symptoms during pregnancy and post-partum complications. Few investigations have reported the safety and efficacy of enzyme replacement therapy for patients with Type I Gaucher disease during a pregnancy. The purpose of this study is to report pregnancy outcomes of patients with Type I Gaucher disease both on and off enzyme replacement therapy and offer recommendations based on our clinical experience for pregnancy management. Methods: The medical records of nine participants with Type I Gaucher disease, some of which received enzyme replacement therapy during a pregnancy, were reviewed. Participants were later contacted for a follow-up interview. Data collected included: age of diagnosis, symptoms of Gaucher disease before and during pregnancy, pregnancy and postpartum complications, enzyme replacement status during pregnancy, and newborn health. Data was organized into individual case reports. Results: Twenty-three pregnancies were investigated resulting in the birth of seventeen healthy infants. Participants treated with enzyme replacement therapy during pregnancy experienced fewer pregnancy and postpartum Gaucher-related complications than those who were not. Conclusions: We recommend women that require enzyme replacement therapy before becoming pregnant continue enzyme replacement therapy during the pregnancy in order to reduce the risk of bone pain/crisis and postpartum bleeding and infection.
Class of 2007
Prevalence and Patient Satisfaction of
Telephoned BRCA1/2 Genetic Test Results.
By Larisa Baumanis
Introduction: The original model for breast cancer genetic counseling involved three clinic visits: a pretest visit for counseling, a blood draw visit, and a results session. Increasingly, clinics are departing from the traditional model and are providing cancer genetic test results by telephone.. The few studies on telephone counseling provide conflicting results about its desirability and efficacy. The current study aims to (1) Gather preliminary data regarding U.S. prevalence of providing BRCA1/2 mutation test results by phone as well as (2) Ascertain patient satisfaction of results delivered by telephone versus results delivered in person. Methods: The study consists of two parts. (1) A survey was sent electronically to all members of the Cancer Special Interest Group on the National Society of Genetic Counselor’s list-serve (n=~475) to ascertain how many counselors are participating in BRCA1/2 telephone results delivery. (2) Patients seen by the University of North Carolina Chapel Hill Cancer Genetics Clinic were mailed a survey designed to ascertain their satisfaction with their mode of results delivery. Results indicate the majority of counselors (92.5%) have delivered BRCA1/2 genetic test results by telephone under some circumstance. Most counselors (63.9%) report delivering results by telephone to <25% of their patient population. Patients were equally satisfied with their results session regardless of mode of delivery (phone v. in person). Patients given a choice regarding mode of results delivery reported significantly higher satisfaction with results delivery than those who did not have a choice.
Stem Cell Transplantation for the treatment of Krabbe disease: An Update for Practicing Genetic Counselors. By Rebecca Crimian.
Introduction: Treatment options for Krabbe disease have often been limited to supportive care of symptoms. Hematopoietic stem cell transplantation for the treatment of Krabbe disease, first reported in the medical literature in 1998, has been considered a successful treatment option if performed before the onset of symptoms in infantile cases. It has been hypothesized that genetic counselors, prenatal counselors specifically, may not have the information or resources necessary to discuss the option with patients. Methods: A survey was designed to assess genetic counselors knowledge and practice regarding hematopoietic stem cell transplantation for the treatment of Krabbe disease and an application for an Educational Breakout Session at the NSGC Annual Education Conference in October 2007 was submitted. Results: One hundred and forty one responses were available for final analysis. Of the respondents 89% were aware that stem cell transplantation was available for treatment of certain genetic conditions while only 31% were aware of Krabbe disease specifically, thus supporting the hypothesis. The EBS application was accepted for presentation at the NSGC Annual Education Conference. Conclusion: Based on the results of the survey, education in the area of stem cell transplantation for the treatment of Krabbe disease is warranted. Education will be provided in the means of an EBS session at NSGC Annual Education Conference.
Are Health Professional
Advisors an Under-Utilized Resource for Recruiting Students and Diversity into
the Genetic Counseling Field? By Amanda Noyes.
Introduction: The diversity in the genetic counseling field does not resemble that of the general population. According to the NSGC's 2006 Professional Status Survey, the majority of practicing genetic counselors are Caucasian females. A 2005 study by Oh and Lewis discovered that previous awareness of genetic counseling is correlated with consideration of the profession and that the students who were already aware of genetic counseling were more likely to be Caucasian females. Minority and male students were equally likely to consider the field if they had previous awareness. A survey of students enrolled in genetic counseling training programs in the 2003-2004 school year by Lega et al. (2005) revealed that only 2.5% of the 235 students first learned of genetic counseling through a career counselor. Health profession advisors (HPA) are in the ideal position on college campuses to create and improve awareness about genetic counseling. Methods: We surveyed 122 HPA to examine their knowledge of genetic counseling, their previous experiences with the field and how they prefer to receive new information about health professions. In addition, we solicited advising responses to hypothetical scenarios. Results: The findings indicate there are deficits in HPA knowledge about the profession. None of the HPA demographics, including gender, ethnicity, years of experience or number of genetic counseling training programs in their region correlated with genetic counseling knowledge. HPA demonstrated a preference for suggesting genetic counseling to female students with higher GPAs over male students. Web-based sources were the most frequently chosen preference for receiving new information about health professions.
Development of a JEMF Proposal
to Identify Core Areas of Knowledge, Competencies and Personal Traits that
Promote Effective Genetic Counseling Student Supervisors. By Kim Guthrie.
Abstract will be available here soon.
Development of a Web-Based
Curriculum for Medical Students Addressing the Ethical, Legal, and Social
Implications of Genetics. By Shana
National Human Genome Research Institute (NHGRI) and the National Coalition for Health Professional Education in Genetics (NCHPEG) have communicated a great need for the education of physicians about the ethical, legal, and social implications (ELSI) of genetic testing and counseling. I partnered with Clinical Tools, Inc. (CTI), an established provider of online medical education, to create educational modules addressing ELSI in genetics. I served as the primary author of a module addressing prenatal carrier screening and diagnostic testing issues. After undergoing revisions based on expert consultation, the prenatal module was administered to medical students across the United States. Initial evaluation of the prenatal module (n = 318) concluded that it met the course objectives and increased medical students’ knowledge regarding prenatal issues. Additionally, medical students reported that they were satisfied with the course and intended to apply the information gained when addressing prenatal ELSI with patients. From this capstone experience, I learned how to maintain productive communication with a team, the basics of HTML computer programming, and how to employ adult learning theories to develop case based instruction. Additionally, I gained a greater understanding of prenatal testing and associated ELSI.
A Comparison of African
American and Caucasian Women: With Whom They Share BRCA1/2 Genetic
Testing Results and Why. By Kacey Platky.
Introduction: Breast cancer is the most common cancer among African American women, and is the second leading cause of cancer death in this population. While the prevalence of breast cancer is higher among Caucasian women, African American women have a higher mortality rate. Mutations in the BRCA1 and BRCA2 genes cause approximately 5-10% of breast cancers, with similar prevalence rates in both populations. Open family communication is critical for women undergoing testing for these mutations because they, not physicians, are responsible for communicating results of the test to relatives, who may also be at risk and thus benefit from results. Methods: In this study, we compared a population of African Americans and Caucasians with regard to what relatives they inform of their BRCA1/2 mutation status. Results: Our findings indicate that African Americans are less likely to inform male relatives of their test results than Caucasians. Respondents from both groups reported that they were more likely to share test results with a female relative to inform her of her risk, and more likely to share with a male relative out of a “sense of duty.” The most common reasons for not sharing with a relative are that the relative is too young or that the relative is male. Conclusion: Given these results, genetic counselors should continue to emphasize risk to family members and the need to share results, especially when talking to African American women in regard to their male relatives.
Treatment Options for Patients with MPSII (Hunter Syndrome) and MPS III (Sanfilippo Syndrome): How Do Families Make the Choice? By Amanda Padro.
Introduction: Despite a lack of evidence supporting the effectiveness of hematopoeitic stem cell transplantations (HSCTs) in patients with MPS II or MPS III, great variability in symptom penetrance amongst affected individuals, varying prognoses on a case by case basis, higher life expectancies in some patients, and high morbidity and mortality rates inherent in HSCT procedures, families choose to pursue HSCT as a treatment option. The prevalence of HSCTs being performed on patients with MPS II or MPS III is unknown due to lack of data and the rarity of the disorder. With the recent addition of ERT as a viable option for patients with MPS II, the questions addressed in this study included: Is the patient population informed about these possible therapies?, Which therapies, if any, are they pursuing?, and How are they making these decisions? Methods: A non-validated survey developed specifically for this study was sent to families making decisions regarding MPS II and MPS III through the National MPS Society. Quantitative and qualitative descriptive analysis was utilized to highlight patterns in how informed these families are regarding HSCT and ERT (for MPS II), and how these families are making decisions regarding treatment options. Results: 66.7% of respondents to the MPS II survey and 53.8% of respondents to the MPS III survey reported knowledge of HSCT as a treatment option for these conditions. 11.1% and 5.8% of these MPS II and MPS III survey respondents reported choosing HSCT, respectively. 100% of MPS II survey respondents reported knowledge of ERT, and 69.4% chose ERT as a treatment option for the condition. Factors important to decisions regarding treatment options included risks, procedure logistics, candidacy, potential benefits, and presence or absence of medical evidence of efficacy. Conclusion: More families coping with MPS II were aware of HSCT as a treatment option, but more families coping with MPS III actually considered the option as a treatment for their child. While majority of respondents from both populations do not choose to pursue HSCT, a small subset of these families report the perception that this is the only option available to them, and they feel that they must try something to prolong or improve their child’s life. A majority of MPS II survey respondents reported pursuing ERT as a treatment option for their child.
How African American men share prostate cancer risk with family members: a pilot study. By Linda Smith.
This study was done to see if men utilized an information sheet regarding prostate cancer to communicate about prostate cancer with family members that was mailed to them after participation in a larger study of genes and nutrition in prostate cancer. The information sheet discussed the heritability of prostate cancer, screening recommendations per the American Urological Association and the American Cancer Society, and suggestions for discussing prostate cancer. Telephone interviews were held with the participants, and questions asked to determine what information was shared with family members. Themes were developed using the grounded theory method. Overall, the participants shared their prostate cancer diagnoses with family members in a relatively prompt fashion. However, most men had received the bulk of their information from their doctors and did not use the information sheet when discussing prostate cancer and risk with family members. Future studies might include giving men information at different time points or perhaps finding other ways to deliver this information to men that have not yet shared their diagnoses with family members.
Class of 2006
Attitudes Towards Anonymous Testing for BRCA 1/2
Abstract will be available here soon.
A Pilot study screen for
prevalence of iron deficiency in child with Down syndrome. By Melissa Alderdice.
Introduction: This study assessed prevalence of iron deficiency (ID) and iron deficient anemia (IDA) in a population of children with Down syndrome and attempted to determine if there are differences in the red blood indices when compared with children with Down syndrome who do not have ID or IDA. Currently, evaluation for ID and IDA involves evaluating the size of an individual’s red blood cells. Since individuals with Down syndrome tend to have larger red blood cells, the diagnosis of ID or IDA may be obscured. Methods: In this study, patients with Down syndrome were recruited for a one time blood draw and laboratory testing to look at several blood measurements including a CBC with manual differential, red blood cell indices, TIBC (total iron binding capacity), FEP (free erythrocyte protoporphyrin), serum ferritin, and serum iron. Results: 39 children between the ages of 12 months and 5 years were enrolled into the study. Exclusion criteria were as follows: children born at less than 37 weeks gestational age or those who had surgery in the past 6 months. Based on these criteria, 3 children being excluded from the study. A detailed nutrition history was taken for participants found to have ID or IDA to look for possible nutrition causes of these conditions. The prevalence of ID was 30.56% and IDA was 5.56%. In our sample, there were more Caucasian children with ID than African American or Hispanic children. Males and females were equally likely to have ID/IDA. Using logistic regression analysis, we did not identify any nutritional risk factors for developing ID/IDA. RDW, MCH and MCHC were significantly associated with ID or IDA status. Conclusion: The high prevalence of ID/IDA in this study population warrants a larger study involving multiple centers to determine the true prevalence of ID/IDA in children with Down syndrome. Such a study could aid in developing new laboratory parameters with greater sensitivity and specificity in detecting iron deficiency in patients with DS.
Giving Good Information:
Health Literacy and a 3 MCC Deficiency Educational Brochure. By
This study focused on literature related to the concept of health literacy and used current guidelines to create an easy-to-read educational brochure for families living with 3-MCC deficiency. Methods: Families from the Organic Acidemia Association were identified, consented, and surveyed to learn more about the written information that they received at the time of their child’s diagnosis Survey participants also were asked to assess the draft brochure’s content, style, layout, format, and readability. Qualitative and quantitative data were collected and analyzed, and the brochure was revised to reflect survey participants’ comments. Results: A majority of survey participants reported not receiving adequate written information at the time of their child’s diagnosis. When asked about the effectiveness of specific health literacy techniques, the majority of respondents scored these items positively. Conclusion: This study demonstrated the need for information that is written at an appropriate health literacy level and that used health literacy techniques. The finalized brochure was ready-to-distribute to its target audience upon completion of this project.
Development of a Female Adolescent Sibling Support Group. By Katie Fritinger
Introduction: When a child is diagnosed with a chronic illness or disability the whole family is affected. Although the child with special needs may receive much attention and intervention to help adjust to life with special needs, the unaffected child may be overlooked or not receive the services they need to cope with the many issues of having a sibling who is sick or disabled. The purpose of this study was to provide a positive environment for adolescent girls to discuss the rewards and challenges of having a sibling with special needs while helping them cope with their family situation. The specific aims of the study was to develop a support group for girls in the fifth to ninth grade who have siblings with special needs and evaluate the need for this particular type of group. The adolescent female sibling support group was called Girls Appreciating Loved Siblings or GALS for short. Methods: The participants were recruited from a previously established sibling support group called Sibshops. GALS consisted of five meeting times from November 4, 2005 through March 10, 2006. A list of questions were discussed and recorded by audiotape at the first and fifth GALS sessions to gather information about the strengths and weaknesses of the GALS program, to identify any changes in the participants' behavior and involvement in the group, and major themes that were discussed by the participants. Reflection statements were written after the second, third, and fourth GALS session and for each Sibshop session about the participants that attended both GALS and Sibshops. These reflective statements and transcripts of the first and fifth GALS sessions were reviewed independently and then collectively by the committee members of this study to identify major themes discussed during GALS, differences between level of involvement by the participants in GALS and Sibshops, and general changes in the participants' willingness to discuss difficult topics. Results: The participants found the physical activities the most enjoyable of all the activities. The creative and artistic activities were also among the favorite activities at GALS. The combination of activities and discussion pieces were the most successful. The participants reported that sibling support group sessions that mainly focused on discussion without physical activities were the least liked type of session. Participant involvement and willingness to discuss their sibling with special needs increased over time. Major differences were found between the amount and level of discussion between the first and fifth GALS sessions. The major themes identified from transcriptions and reflection statements included judgment, fear, jealousy, avoidance, caregiving responsibilities, and desire for more attention from parents. The differences found between GALS and Sibshops was the males tended to dominate the conversation and participate more in the Sibshop sessions compared to the females. While the length and depth of the conversations did not differ between GALS and Sibshops, the females' involvement in the discussion at GALS was higher compared to their involvement at Sibshops. Individual changes in the female participants' willingness to discuss their sibling with special needs happened more frequently at GALS than at Sibshops. The older females at GALS had a higher level of participation in the activities and discussion pieces compared to the younger females.
Preoccupations in Children with Williams syndrome
Abstract will be available here soon.
Improving Patient Care Through the Use of Genetic Testing Forms that Adhere to Professional Recommendations. By Alice Kraemer Tanner.
The use of genetic testing by
non-genetic specialists and primary care physicians in the U.S. will increase
as more tests become commercially available and as patient demand for these
tests increases faster than can be handled by the limited number of genetics
providers. Genetic testing and the reporting of test results can be very
complex, and often more is needed than simply the result in order to make
appropriate health decisions. Clear communication of all relevant information
between the physician requesting the testing and the laboratory reporting the
results is essential for accurate physician understanding and patient
To facilitate this communication and understanding, I conducted a thorough literature review to illustrate the need for more standardized genetic testing forms. I then summarized professional guidelines describing recommendations for the information that should be included in test requisition forms and results reports, using cystic fibrosis and hereditary breast and ovarian cancer testing as models. From this information, I created example request forms and result report forms that followed these guidelines. The information contained in the forms plays two roles. The first is to aid physicians in requesting genetic tests by explaining what patient information is needed and why. The second is to aid the physician in interpreting results reports by explaining what the results mean for the individual patient. My hope is that this literature review, synthesis of professional society guidelines, and proposal of example test forms will be helpful to other groups that are dealing with this issue, as well.
The Support Needs and Barriers of Minorities: Hispanic Families and the Down Syndrome Network of Central Carolina. By K. Gayle Simpson.
Introduction: Support groups are valuable to families experiencing genetic conditions because they provide both educational and emotional support. The Down Syndrome Network of Greater Greensboro (DSNGG) was formed in 2002 by a group of parents and healthcare professionals to provide support to local families. The DSNGG has been very successful; however, like many support groups, ethnic minorities are underrepresented. North Carolina has a large Latino population, and the DSNGG would like to extend its services to Latino families to ensure their needs are also met. Most research indicates that Latino families with children with disabilities do not receive the support they need, and this can be seen through the lack of use of medical and support services (Centers for Disease Control, 2001). The consequences of Latinos not being involved in a support group may include lack of educational information, social support, and reduced access to medical care. The purpose of this project is to assess the level and types of support Latino families of children with Down syndrome are currently receiving. Secondly, the project will identify the barriers to support Latino families face; and lastly, assess their interest in receiving support from the DSNGG. Methods: In order to assess the support needs and barriers of Latino families with children with Down syndrome and offer recommendations to the DSNGG on how to increase support for Latino families two approaches were used: 1) A survey of existing support groups who serve Latino families with children with Down syndrome and 2) A focus group meeting of local Latino families with children with Down syndrome. Three established Latino support groups were interviewed in order to learn how successful support groups for Latinos are formed and organized. In addition, a group of Latino families who have a child with Down syndrome were invited by local healthcare agencies in Greensboro , NC to participate in a focus group discussion. Results: The 5 Latino parents who participated in the focus group meeting indicated that the most important barriers to support and services are language, transportation and decreased access to services. Parents also reported that their nuclear and extended families are the most important source of support in their lives. Overall, the families reported that they would like contact with other families with children with Down syndrome and would like to participate in a regular support group through the DSNGG. Latino families are interested in this experience because they can learn from the experiences of others and allow their children to meet other children like themselves. Using the responses from the interviews of established support groups and the responses of the focus group meeting participants recommendations to the DSNGG are made to increase the amount of support Latino families in the Greensboro area are receiving.
Nondirectiveness: Genetic Counselors Perceptions, Practice and Purpose. By Sarah Von Schuch.
Introduction: Nondirectiveness is a central tenet of genetic counseling and its purpose is commonly defined as “supporting client autonomy and promoting active, self-confident decision making” (Kessler, 1997, p. 166). Despite being well espoused, however, nondirectiveness has been an area of controversy. In the last few years many different perspectives of nondirectiveness have surfaced, yet trends in genetic counselors’ perceptions, beliefs, and use had not been assessed since 1993. The purpose of this study was to investigate genetic counselors’ perceptions, beliefs, and practice of nondirectiveness, as well as identify trends in its use. Methods: The study employed web-based questionnaires open to all working master’s level genetic counselors who were members of the National Society of Genetic Counselors. Results: The study found that genetic counselors today feel less strongly about the importance of nondirectiveness in clinical practice than did counselors in 1993. It also found that the overwhelming majority of counselors (95%) believed it was appropriate to be directive at times. Still, despite this, the majority of genetic counselors also believed there is not a better approach or philosophy that fits their practice today. In addition we found that while genetic counselors differ in how they choose to describe/define nondirectiveness, these differences did not appear to impact how counselors incorporate nondirectiveness into their clinical practice.
Class of 2005
Characteristics Predictive of a Future NF1 Diagnosis and implications for clinical follow up of undiagnosed patients. Abstract will be available here soon.
Parent's Beliefs about the etiology of Autism Spectrum Disorders. By Jill Griesbach.
Introduction: The etiology of autism is genetically complex and for the majority of families there is not a clear-cut, causal genetic mechanism. As a result, many parents of children with autism may have formulated a personal belief about the cause of their child’s autism. These same parents may commonly experience negative emotions such as guilt, irritability, and anxiety that are directly related to their etiologic beliefs. This pilot study serves to identify parents’ etiologic beliefs and the psychological impact of these beliefs. The first objective is to qualitatively assess parents’ personal beliefs surrounding etiology of autism. The second objective is to identify the genetic counseling and education needs of these same parents. Methods: Thirty parents (N=30) of children with autism were recruited from North Carolina autism support group meetings. Data was collected using a sociodemographic report and psychosocial interview. Results: The majority of participants (97%) were females over the age of 30 who were married and had at least some college education. Results of this study indicated that the majority of parents (73%) have not had genetic counseling. The most commonly cited etiology of autism in the general population was genetics (30%.) Thirty-three percent cited genetics as the etiology in their individual child. Fifty-seven percent of participants indicated that they thought that they had an accurate understanding of the cause of their child’s autism. Ninety-eight percent of participants indicated interest in learning more about the cause of autism and identified factors which would assist themselves and their family members’. Participants identified their informational sources; the Internet was the most frequently cited response. Ninety percent of parents (90%) indicated that obtaining knowledge about autism had assisted their coping. A self- reported emotion rating revealed that parents who reported genetics and environment as the cause reported the fewest negative emotions. This pilot study also assessed the psychosocial views of parents of children with autism. Conclusion: Data from this research study may help genetic counselors as they assess and address both the genetic education and the psychosocial needs of parents of children with autism. Additionally, results support the development and implementation of genetic education programs in a variety of formats including print publications, internet, and lectures.
The Prevalence of Genetic Discrimination in the Huntington Disease Population and the Impact on Decision Making for Genetic Testing. By Jessica P Hooks.
Introduction: As our knowledge of genetics increases, concern regarding the potential for genetic discrimination grows. This issue is particularly salient for the Huntington disease (HD) population as genetic testing for this condition is 99% predictive. Our study aimed to assess the prevalence of genetic discrimination in the HD population. Secondary goals included gaining a better understanding of the factors patients consider when making testing decisions and evaluating the impact of the discussions genetic counselors have with their patients about genetic discrimination. Methods: To address these issues, we developed a survey that was posted on the Huntington’s Disease Society of America website. We also created a questionnaire for genetic counselors who work with the HD population that was distributed at the 2004 NSGC Neurogenetics Short Course meeting. Results: Two hundred and eighty-nine survey responses were collected for data analysis. 31.33% of the survey participants that have undergone testing reported experiencing genetic discrimination. Logistic regression analysis revealed that a participant’s “test result” was the only significant predictor of report of genetic discrimination. For the group that has not been tested, chi-square analyses showed that factors considered when making testing decisions were dependent upon a respondent’s age and gender. This relationship was not present in the group that has undergone testing. Sixty-six genetic counselors completed the questionnaire, and 95.45% reported talking with their patients about genetic discrimination. 43.08% of genetic counselors believed that patients felt slightly less anxious about discrimination after counseling while 46.15% of survey participants indicated no change in their anxiety levels following counseling. Conclusion: The results of the survey suggest that genetic discrimination does occur in the HD population. Future research is needed to evaluate the social discrimination experienced by HD patients and the specific factors that confer an increased risk for genetic discrimination.
Genetic Counselors' Views about Domestic Violence in a Prenatal Population: Results of Focus Group and National Survey. By Shannon Marie Morrill-Cornelius.
Previous studies have shown that 6-10% of pregnant women presenting in an obstetrics clinic have suffered domestic abuse during pregnancy (Norton, Peipert, Zierler, Lima, & Hume, 1995; Martin, Mackie, Kupper, Buescher, & Moracco, 2001). These women are at an increased risk for sexually transmitted diseases, substance abuse, preterm labor, low birth weight infants, and insecure attachment to their infants (Martin et al., 1999; Martin, Beaumont, & Kupper, 2003; Valladares et al., 2002; Shumway et al., 1999; Huth-Bocks, Levendosky, Theran, & Bogat, 2004). It is hypothesized that comparable rates of abuse occur in women referred for genetic counseling. Due to the rapport built between counselors and clients and the nature of the conversations that occur in genetic counseling, genetic counselors may have a unique opportunity to identify abuse victims that have not been identified by other health care providers. Lack of training for genetic counselors may lead to the signs of abuse going unnoticed, resulting in the under-referral of domestic abuse victims by genetic counselors to appropriate agencies. We hypothesized that in the prenatal genetic counseling population, domestic violence victims are rarely being identified or referred for appropriate assistance, and that this is an area that can be improved within our professional community. The goal of this study was to facilitate local focus groups and to survey the entire National Society of Genetic Counselors (NSGC) to determine what training is being received, what tools are being used to assess domestic violence, what the perceived prevalence in the population is, what the barriers are to screening, what interest there is in overcoming those barriers, and what areas of screening and treatment could be improved. Our data indicates that genetic counselors in all specialties may not have sufficient training in abuse screening or knowledge about referral resources in their community and that services for domestic abuse victims can be improved in various ways. We determined that a majority of genetic counselors see abuse counseling and referral as one of their responsibilities and that some programs are offering training on identification and counseling of abuse victims. Many counselors are interested in training on screening methods, community resources, and development of a standard screening tool for serving this population.
Interstitial 10q Deletion: A Case Report and Review of the Literature. By Courtney A. Rowe-Teeter.
Interstitial deletions within the long arm of chromosome 10 are uncommon. Only 22 cases have been reported in the medical literature. This report describes a new patient whose cytogenetic analysis revealed 46, XY, del(10)(q11.23q21.2). The report also reviews the 13 reported cases of 10q deletions that overlap or flank the deletion in the index case to provide more information on the variable phenotypes associated with these deletions. The patient presented here displayed several of the most common clinical features of interstitial deletions of 10q, including hypotonia, heart murmur, telecanthus, broad forehead, and plagiocephaly, while also exhibiting the less commonly cited features of asymmentrical hand length, short neck, thin upper lip and joint contractures. Conjecture about genes responsible for specific phenotypic features is difficult, as there is significant clinical variability even among patients with reportedly similar breakpoints. This case report provides a singular, recent resource for genetic counselors to use when counseling families about a deletion in this proximal 10q region.
Behavioral Differences in Children with Prader-Willi Syndrome Due to Deletion, Maternal Disomy, and Imprinting Defects. By Kelly Griffin Schoch.
Prader-Willi Syndrome (PWS) is a genetic disorder caused by the absence of normally expressed genes on the paternally inherited chromosome region 15q11-q13. PWS is characterized by hyperphagia and insatiable appetite, persistent food-seeking behaviors, progressive obesity, and mental retardation. PWS can be transmitted through paternal deletion, maternal uniparental disomy (UPD), or a defect in the imprinting control center. Studies to date have been conducted comparing physiological, psychological, cognitive, and behavioral features between deletion and UPD cases. This study aimed to identify behavioral differences between the three etiologic groups with a focus on the differences in food versus nonfood-related behaviors and the ages at which these behaviors first occur. One-hundred sixty-seven parents or caregivers of children with PWS completed the Global Assessment of Individual’s Behavior (GAIB) during regular clinic visits or through an online survey tool. A MANCOVA was performed revealing no significant differences between the three transmission types with regard to this subset of behaviors. However, a pattern was revealed demonstrating a dampening of behavior severity from the deletion and UPD groups to the imprinting defect group. As age was the only factor causing a significant amount of variance, behavioral graphs were constructed across age groups illustrating the pattern of behavior onset and course over time. Nonfood-related behaviors were found to be statistically more problematic than food-related behaviors when transmission type was not taken into account, suggesting that the PWS unique behavioral profile does not solely stem from the underlying desire for food associated with this condition.
What is the Student Experience with National Society of Genetic Counselors? Abstract will be available here soon.
Predicting the Presence of MECP2 Mutations in Females with Autistic Disorder Using Two Published Rett Syndrome Scales. By Niamh Stover.
The phenotypic overlap between Rett disorder and autistic disorder (AutD) makes it difficult to establish genetic testing guidelines for MeCP2 mutations, which are present in 80% of individuals with classic Rett disorder. The decision to test is straightforward for individuals who present with a classic Rett disorder phenotype. However, it has been shown that a small percentage of individuals with an AutD phenotype also have MeCP2 mutations. Determining which individuals with AutD to test for MeCP2 mutations is, obviously, more difficult. In order to determine if the AutD clinical presentation can inform the decision for MeCP2 testing in females with AutD a retrospective study will be conducted. Using two novel Rett disorder questionnaires (The Rett Syndrome Behavior Questionnaire (RSBQ) and the Checklist for Rett Syndrome), parental interviews will be done with the parents of 69 females with AutD. Previously, these females had been screened for MeCP2 mutations revealing a 4.35 percent detection frequency. The Rett Syndrome Behavior Questionnaire (RSBQ) and the Checklist for Rett syndrome may provide an aid to clinicians for deciding which individuals clinically diagnosed with AutD should undergo genetic testing for MeCP2. The ability to elucidate which individuals might have MeCP2 mutations versus another etiology of the AutD phenotype can lead to a more targeted utilization of this expensive genetic testing.
Class of 2004
• Jewish Heritage Genetic Testing: Information and Current Recommendations
• Women's experience with and providers discussion of prenatal testing: Analysis of pilot data from the Interactive Computer Assisted Instruction (ICAI) study
• Newborn screening by tandem mass spectrometry: Informational needs of parents.
• Perceptions of genetic and conventional medical tests in different populations.
• Case report and literature review: Patient with unusual dicentric chromosome and partial trisomy 18p
• Surveying the incidence of poisoning in people with Prader-Willi syndrome
• The Down syndrome support network of greater Greensboro : Sustaining and Growing
• Does genetic counseling influence a preimplantation genetic diagnosis (PGD) patient's decision to pursue prenatal diagnosis?
Class of 2003
• Diversifying Genetic Counseling: Findings and Recommendations
• Formation of Greensboro DS Support Group
• Influence of Family History Information on Determining Treatment for Individuals with Early Signs of Coronary Artery Disease
• Development of Patient Letter Writing Components for Genetic Counseling
• A Grant Proposal for the Development of a Training Curriculum for Genetic Counseling Clinical Supervision
• Evaluation of a Genetics eLearning Program: An effective tool for adult learners?
• HHC: Models of Education and Awareness for Patients and Health Professionals
• The Hereditary Nature of Prostrate Cancer: What a patient needs to know
• HHC: Models of Education and Awareness for Patients and Health Professionals
• Perceived Need for Genetic Education Among Health Professional Graduate Students