Enter Note Done

Session


B. Guo1, S. Knerr2, K. F. Mittendorf3, H. S. Feigelson4, M. J. Gilmore3, G. P. Jarvik5, T. L. Kauffman6, E. M. Keast6, F. L. Lynch6, K. R. Muessig3, S. Okuyama7, D. L. Veenstra8, J. M. Zepp3, K. A. B. Goddard3, B. Devine8; 1Dept. of Epidemiology, Univ. of Washington, Seattle, WA, 2Dept. of Hlth.Services, Univ. of Washington, Seattle, WA, 3Dept. of Translational and Applied Genomics, Ctr. for Hlth.Res., Kaiser Permanente Northwest, Portland, OR, 4Inst. for Hlth.Res., Kaiser Permanente Colorado, Aurora, CO, 5Dept. of Med., Div. of Med. Genetics, Univ. of Washington Med. Ctr., Seattle, WA, 6Ctr. for Hlth.Res., Kaiser Permanente Northwest, Portland, OR, 7Dept. of Med., Denver Hlth.and Hosp. Authority, Denver, CO, 8Dept. of Pharmacy, Comparative Hlth.Outcomes Police and Economics Inst., Univ. of Washington, Seattle, WA

Purpose: Germline genetic testing can identify high penetrance variants of hereditary cancers, enabling the early use of risk management options. Risk-reducing surgeries (RRS), such as bilateral mastectomy, bilateral salpingo-oophorectomy (BSO), and total hysterectomy decrease the risk of breast, ovarian, and endometrial cancer. However, prior studies on the uptake of RRS are often limited to those with pathogenic variant in well-studied genes within non-integrated healthcare systems. Therefore, we examined the uptake of RRS in unaffected individuals tested for multiple genes including those influencing breast, ovarian, and endometrial cancer risk between January 1, 2010 and December 31, 2018 in an integrated health care system. Methods: We conducted a retrospective cohort study of individuals aged 18 years without prior cancer history who received genetic testing for at least one hereditary cancer susceptibility genes within Kaiser Permanente Northwest. We described the uptake and timing of RRS by genetic test results (pathogenic/likely pathogenic (P/LP), variants of uncertain significance (VUS), and negative) using electronic health records and claims data. For those with P/LP, we further categorized surgery as recommended, recommended for consideration, or not recommended based on current National Comprehensive Cancer Network guidelines. Results: Of 1,020 individuals included, the mean age was 48 years (range: 18-<90), and the majority identified as non-Hispanic White (87%). On average, individuals had three years of follow-up (range: <1-9), 170 (16%) individuals had at least one P/LP variant, 146 (14%) had only VUS, and 706 (69%) had only negative results. Most opting for surgeries had a P/LP or VUS variant: bilateral mastectomy: 84% (38/45); BSO: 76% (28/37); total hysterectomy: 56% (19/34). Among those who had a P/LP result in a gene where surgery was recommended or recommended for consideration, only a few underwent bilateral mastectomy or BSO: 34% (33/97) and 24% (23/94), respectively. However, 53% (18/34) of hysterectomies were carried out in individuals with P/LP variants in genes without hysterectomy recommendations, often at the time of BSO. In multivariable analysis, BSO uptake was associated with age 35 years, year of genetic testing, and increasing number of follow-up years. Conclusion: The uptake of RRS following hereditary cancer genetic testing was low among unaffected individuals in an integrated health care setting. Limitations of our data included no family history information and the inability to know whether surgery was informed by genetic test results or the reasons for not having/delaying surgery.
Session Type
Poster Presentations
Topic
Genetic Counseling‚ ELSI‚ Education‚ and Health Services Research