Abstract

Background: Identifying germline BRCA mutations in ovarian cancer patients is important for the medical management of patients and risk management for relatives. In Asia, genetic services are relatively inaccessible mainly due to the lack of genetic counselling. Mainstreaming improved access to cancer genetic testing in United Kingdom, hence its feasibility is being tested in Malaysia. The MaGiC Study aims to (a) determine the prevalence of germline BRCA1/BRCA2 mutations in a population-based cohort (b) determine the feasibility of mainstreaming genetic counselling and testing and (c) investigate the psychosocial impact of genetic testing in Malaysia Methods: This is a prospective observational study of 800 patients with non-mucinous ovarian cancer irrespective of family history, recruited via a mainstreaming pathway where patients are counselled by non-genetic clinicians or the traditional genetics pathway. Phone interviews are conducted after pre-test counselling and result disclosure to study feasibility and psychosocial impact using Genetic Counselling Satisfaction Scale (GCSS), Decisional Conflict Scale (DCS), Psychosocial Aspect of Hereditary Cancer (PAHC) and Cancer Worry Scale (CWS). Results: 70 clinicians from 29 sites nationwide recruited 248 patients. 208 patients were tested. 27 (13%) pathogenic mutations, 33 (16%) variants of uncertain significance and 148 (71%) negatives were identified. Analysis of 160 patients showed that GCSS, DCS, PAHC and CWS were reliable. Most patients were satisfied with their counselling experience, not conflicted in making decision, felt informed about their choices. PAHC showed that 79% patients at pre-test and 69% at post test had a problem mainly on ‘living with cancer’. Distress Thermometer showed 41 of 158 (26%) patients may require psychosocial support at pre-test but reduced to 17% after result disclosure. For CWS, 64 of 156 (41%) patients at pre and 26 of 64 (41%) at post-test reported to have frequent concerns about getting cancer again. Conclusions: Mainstreaming may improve access to cancer genetic testing regionally. Interim results from this study will demonstrate the challenges and the feasibility of introducing mainstreaming cancer genetics in Malaysia. Legal entity responsible for the study: Cancer Research Malaysia Funding: Cancer Research Malaysia and Astra Zeneca Disclosure: S.Y. Yoon: This study is funded by Cancer Research Malaysia and with an Investigator Initiated Grant from Astra Zeneca. Ms Yoon has received honorarium as invited speaker by Astra Zeneca. N. Rahman: Non-executive director of Astra-Zeneca. M.K. Thong, S.H. Teo: Honorarium as speaker from Astra Zeneca. Y.L. Woo: Honorarium as a speaker by Astra Zeneca. All other authors have declared no conflicts of interest.

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