Abstracts of
Recent Capstone Projects
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
The supervisor-student
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
Beth Hudson
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 Merrill.
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
Genetic Counselor's
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 Amanda Buglio.
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.
Characterization of
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 management.
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