जेनेटिक सिंड्रोम और जीन थेरेपी जर्नल
खुला एक्सेस

अमूर्त

Genetic Counselling Referral Rates and Uptake of BRCA1 and BRCA2 Testing among Women Diagnosed with Serous Ovarian Cancer in a Tertiary Care Cancer Centre

Bell K, Scott M, Pond G, Piccinin C, Amer M, Elit L and Bordeleau L

Rationale: In Ontario, all women diagnosed with serous ovarian, fallopian tube or primary peritoneal cancers are universally eligible for BRCA genetic testing (GT). We aim to document referral patterns and factors predictive of referral at the Juravinski Cancer Centre (JCC), Hamilton, ON.
Methods: Retrospective chart review of all patients with a diagnosis of serous ovarian, fallopian tube and
primary peritoneal cancers seen at the JCC from January 2009 to December 2011 was completed. The percentage of these patients referred to the JCC genetics clinic was calculated. Potential factors prognostic for referral (age and stage at diagnosis, grade, existence of biological children, family history, provider, discussion of genetics referral) were analyzed by logistic regression.
Results: 226 eligible patients were identified; 73 (32%) were referred and 61 (84%) consented to testing. 11 (18%) were found to carry a BRCA1 or BRCA2 mutation. In univariable models, stage (p=0.013), genetics discussion within the first three visits (p<0.001), and family history of breast and/or ovarian cancer (p=0.002) were significant predictors of referral. Stage (p=0.017) and early discussion (<0.001) remained significant in multivariable model.
Conclusions: The referral rate of women with serous ovarian, fallopian tube and primary peritoneal cancers to our genetics program is currently suboptimal. Stage at diagnosis and early discussion of GT were significant prognostic factors for referral. This information will be used to explore alternative delivery models of BRCA testing services to optimize uptake of GT within this eligible population, and ultimately improve care.