Abstract

Abstract Background Identification of germline BRCA mutations in ovarian cancer patients allows clinicians to make treatment decisions and manage risks. Due to the lack of genetic counsellors, clinical geneticists and awareness among clinicians, there is minimal testing regionally. Mainstreaming genetic counselling may improve this access. This study aims to determine the prevalence of BRCA mutations, feasibility of mainstreaming and the psychosocial impact of genetic testing in Malaysian ovarian cancer patients. Methods This study aimed to recruit 800 patients with non-mucinous epithelial ovarian, peritoneal or fallopian tube cancer regardless of age or family history, via mainstreaming or referral to genetic services. Genetic Counselling Satisfaction Scale (GCSS), Decisional Conflict Scale (DCS), Psychosocial Aspect of Hereditary Cancer (PAHC) and Cancer Worry Scale (CWS) were used to measure the feasibility and psychosocial outcomes. Mainstreaming clinicians provided feedback through a survey. Results 23/28 mainstreaming sites remained active and 47/68 trained clinicians continued to provide genetic counselling. 800 patients have been recruited, 690 via mainstreaming and 110 via genetics route. 790 have been tested, 110 (13.9%) have pathogenic variants, 90 (11.4%) VUS and 590 (74.7%) negative. Majority of the patients were satisfied with their pre-test GC (mean: 23.9; SD: 2.7) and post result disclosure (mean: 24.6; SD: 2.6). Large majority (86%) did not feel conflicted. Patients with no issues in 5 out of 6 PAHC domains increased from 46% at pre-test GC to 62% at result disclosure. However, only 16% of participants showed high distress level after result disclosure, 22% of these were carriers. Generally, there were no significant differences between mainstreaming and genetics pathways. 36/47 (80%) of clinician are confident to counsel patients and want to integrate BRCA testing into their clinical practice. Conclusions BRCA prevalence for ovarian cancer in Malaysia is 13.9%. There is satisfaction in counselling services, acceptable psychosocial impact with no significant differences between mainstreaming and genetics pathway. Mainstreaming may improve access to genetic testing in Malaysia. Legal entity responsible for the study Cancer Research Malaysia. Funding AstraZeneca. Disclosure S.Y.Y. Yoon: Research grant / Funding (institution), Investigator Initiated Research Grant: AstraZeneca. A. George: Research grant / Funding (institution): Wellcome Trust; Honoraria (institution): AstraZeneca; Honoraria (institution): Roche; Honoraria (institution): Tesaro.

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