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Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice

Czekalski, Megan (2021) Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice. Master's Thesis, University of Pittsburgh. (Unpublished)

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Abstract

With significant deficits in early detection and poor treatment response, ovarian cancer is a devastating diagnosis for many women. Up to 25% of epithelial ovarian cancer (EOC) is due to a hereditary predisposition, most commonly in BRCA1 and BRCA2. Pathogenic variants in BRCA1, for example, confer a 45% lifetime risk of EOC; whereas, the general population risk is only 1-2%. Knowledge of an affected individual’s genetic status can have significant implications for treatment and prognosis. Women with pathogenic variants in BRCA1/2 have an enhanced response to platinum-based chemotherapy and poly ADP-ribose polymerase (PARP) inhibitors, leading to an improved prognosis. Identifying individuals who harbor pathogenic variants in ovarian cancer predisposition genes is therefore of critical importance.
Current National Comprehensive Cancer Network (NCCN) guidelines recommend that all individuals diagnosed with EOC be offered germline genetic testing. While this would ideally be performed by genetics professionals, a shortage of genetic counselors precludes timely access to these services. This study sought to investigate the current genetic testing practices of oncology providers in order to determine the feasibility of oncologist-led genetic testing for patients with EOC. A survey was distributed to members of the Society of Gynecologic Oncologists with questions regarding timing, frequency, and type of genetic testing, referrals to genetics professionals, confidence with aspects of genetics services, and any barriers that currently hinder these processes. Results of the study were encouraging, with the majority of providers always ordering genetic testing for patients with EOC; testing was most commonly ordered at diagnosis and was typically multi-gene panel testing that included BRCA1/2, consistent with current recommendations. Provider confidence with the genetic testing process was generally high, especially for deciding which patients to refer to genetics professionals. Patient disinterest and concerns for insurance coverage were commonly cited barriers to testing and referrals. Thus, oncologist-led genetic testing for patients with EOC, with referrals to genetics professionals when appropriate, has the potential to be a viable alternative service delivery model and warrants additional investigation.


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Details

Item Type: University of Pittsburgh ETD
Status: Unpublished
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Czekalski, Meganmac547@pitt.edu
ETD Committee:
TitleMemberEmail AddressPitt UsernameORCID
Committee ChairHuziak, Rachellehuziakr@upmc.edu
Committee MemberMai, Phuongmaip@upmc.edu
Committee MemberDurst, Andreaadurst@pitt.edu
Date: 10 May 2021
Date Type: Publication
Defense Date: 13 April 2021
Approval Date: 10 May 2021
Submission Date: 26 April 2021
Access Restriction: No restriction; Release the ETD for access worldwide immediately.
Number of Pages: 86
Institution: University of Pittsburgh
Schools and Programs: Graduate School of Public Health > Genetic Counseling
Degree: MS - Master of Science
Thesis Type: Master's Thesis
Refereed: Yes
Uncontrolled Keywords: ovarian, cancer, genetic, testing, oncologist
Date Deposited: 10 May 2021 23:57
Last Modified: 10 May 2021 23:57
URI: http://d-scholarship.pitt.edu/id/eprint/40856

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  • Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice. (deposited 10 May 2021 23:57) [Currently Displayed]

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