遗传咨询
社会心理的
医学
家庭医学
基因检测
介绍
林奇综合征
主流化
肿瘤科
癌症
心理学
内科学
精神科
遗传学
生物
结直肠癌
特殊教育
数学教育
DNA错配修复
作者
Sook‐Yee Yoon,Siu Wan Wong,Joanna Lim,S.Airiza Ahmad,Shivaani Mariapun,H. Padmanabhan,Nur Tiara Hassan,S.Y. Lau,Gaik-Siew Ch’ng,Muzhirah Haniffa,Winnie Ong,Kavitha Rethanavelu,Lip Hen Moey,Wee Teik Keng,Jamil Omar,Mohd Norazam Mohd Abas,Chee Meng Yong,Vickneswaren Ramasamy,Mohd Rushdan Md Noor,Ismail Aliyas
标识
DOI:10.1136/jmedgenet-2020-107416
摘要
Background Identifying patients with BRCA mutations is clinically important to inform on the potential response to treatment and for risk management of patients and their relatives. However, traditional referral routes may not meet clinical needs, and therefore, mainstreaming cancer genetics has been shown to be effective in some high-income and high health-literacy settings. To date, no study has reported on the feasibility of mainstreaming in low-income and middle-income settings, where the service considerations and health literacy could detrimentally affect the feasibility of mainstreaming. Methods The Mainstreaming Genetic Counselling for Ovarian Cancer Patients (MaGiC) study is a prospective, two-arm observational study comparing oncologist-led and genetics-led counselling. This study included 790 multiethnic patients with ovarian cancer from 23 sites in Malaysia. We compared the impact of different method of delivery of genetic counselling on the uptake of genetic testing and assessed the feasibility, knowledge and satisfaction of patients with ovarian cancer. Results Oncologists were satisfied with the mainstreaming experience, with 95% indicating a desire to incorporate testing into their clinical practice. The uptake of genetic testing was similar in the mainstreaming and genetics arm (80% and 79%, respectively). Patient satisfaction was high, whereas decision conflict and psychological impact were low in both arms of the study. Notably, decisional conflict, although lower than threshold, was higher for the mainstreaming group compared with the genetics arm. Overall, 13.5% of patients had a pathogenic variant in BRCA1 or BRCA2, and there was no difference between psychosocial measures for carriers in both arms. Conclusion The MaGiC study demonstrates that mainstreaming cancer genetics is feasible in low-resource and middle-resource Asian setting and increased coverage for genetic testing.
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