Genetic Counseling Inter-personal and Intra-personal Individual Variability in Risk Assessment and Prediction of BRCA1 and BRCA2 Mutations

Posted on May 30, 2010

Courtney McGuire

CAPSTONE

Capstone Project Committee: Nancy Callanan, M.S., CGC, James Evans, M.D., Ph.D., Catherine Fine, M.S., CGC, Claire Healy, M.S., CGC, Scott Richter, Ph.D. (Statistical Consultant)

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.

Since Graduation

Courtney McGuire Yerxa Alumni Update 2010

Following graduation in 2010, Courtney began her career as a laboratory genetic counselor, specifically in the molecular genetics department at LabCorp. A year later, she moved into a clinical role at Duke Perinatal Consultants, working with couples going through high risk pregnancies.

This position also allowed her the opportunity to supervise UNCG genetic counseling students during their clinical rotations. After working in the maternal-fetal medicine field for 6 years, Courtney made the difficult decision to become a full-time stay-at-home mom to her then 6 year old son and 2 year old daughter.

However, only a few months later, she accepted a part-time work-from-home contract genetic counselor position with JScreen, a not-for-profit at-home education and carrier screening program for genetic diseases more commonly found in the Jewish population. For a short time her schedule also allowed her to cover a monthly genetics clinic in a local hematology/oncology office. Courtney has continued working from home for JScreen for the past 2 and a half years.

She currently lives in Fuquay Varina, North Carolina with her husband (Christian), 9 year old son (Cooper), and 5 year old daughter (Sloane).

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