Genetic Counseling Program

Untitled Document

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.

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  • "I chose to attend UNCG because of its shared learning environment and the access to some of the leading institutions in the country. "

  • "UNCG is a great fit for me. The program directors have extensive experience in the world of genetic counseling and provide you with opportunities to work with some of the best medical centers in the country. Our location allows us to have expert guest lecturers, many of whom you also get to work alongside or observe in your clinical rotations in your second year. We also have some really wonderful and unique opportunities as a part of this program: we observe in syndrome specific support groups and clinics, tour genetic laboratories, and are matched with a family with a genetic disease to learn what it is like to live with a genetic condition. Finally, our directors are genuinely invested in each of us, and care about our success and getting to know each of us personally."

  • "The director and assistant director do their best to ensure that our program provides a collaborative learning experience.  Both are active members of the Genetic Counseling community and strive to introduce you to all aspects of this field.  We also have renowned clinical sites and the beautiful state of North Carolina at our disposal.”