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Exploring Ob-Gyn providers' experience with and knowledge of multi-gene panels for hereditary breast and ovarian cancer

Amurgis, Jaclyn (2018) Exploring Ob-Gyn providers' experience with and knowledge of multi-gene panels for hereditary breast and ovarian cancer. Master's Thesis, University of Pittsburgh. (Unpublished)

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Genetic testing for hereditary risk factors for breast and ovarian cancer initially focused on the BRCA1 and BRCA2 genes. Ob-Gyns have been involved in making this testing accessible to patients. With recent advancements in genetic testing technologies, multi-gene panels are being used to test a group of cancer genes simultaneously. Prior studies focused on the BRCA genes showed that Ob-Gyn providers and other non-genetics professionals can sometimes misinterpret genetic test results and are often uncomfortable counseling patients about testing implications. The use of cancer panels introduces additional complications, as these tests include many more genes that each have their own cancer risk profile. Literature regarding how Ob-Gyn providers are using these panels is currently lacking.

In this study, 67 Ob-Gyn providers (physicians, gynecologic oncologists, PA-Cs/CRNPs/midwives, residents/fellows) in Western Pennsylvania were surveyed about their current practices regarding breast and ovarian cancer panels.
About 61% of providers reported using results from cancer panel testing to help manage patients. Responses to theoretical clinical management scenarios varied by provider type and experience level. Ob-Gyns and individuals with more clinical experience were more likely to refer the theoretical patients to discuss prophylactic bilateral mastectomy at moderate breast cancer risks (20% and 40%). About 30-80% of providers outside of gynecologic oncologists failed to recommend RRSO for the 5% and 10% risk categories, although RRSO is indicated for genes with similar associated risks. Further, 70% of all providers indicated incorrect risk assessment for an individual testing negative for a known familial pathogenic variant in a moderate risk breast cancer gene. Most providers excluding gynecologic oncologists also indicated discomfort interpreting positive/inconclusive test results and reported inadequate cancer genetics formal education.

This study identified several concerning findings that could have public health significance. Some providers selected inappropriate management recommendations based on current NCCN guidelines for multi-gene breast/ovarian panel testing and other providers reported inadequate genetics training. These concerns must be addressed to ensure that individuals seeking cancer genetic testing are receiving consistent, appropriate, and evidence-based care based on their results.


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Item Type: University of Pittsburgh ETD
Status: Unpublished
CreatorsEmailPitt UsernameORCID
Amurgis, Jaclynjka16@pitt.edujka16
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairMay,
Committee CoChairDurst,
Committee MemberGrubs,
Committee MemberBear,
Date: 17 September 2018
Date Type: Publication
Defense Date: 13 June 2018
Approval Date: 17 September 2018
Submission Date: 4 June 2018
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 120
Institution: University of Pittsburgh
Schools and Programs: School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: cancer genetic counseling, BRCA, NCCN, gynecologic, breast, ovarian, Ob-Gyn, multi-gene panel, genetic testing
Date Deposited: 17 Sep 2018 19:47
Last Modified: 17 Sep 2018 19:47


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