肿瘤学家主导的咨询改善了中等收入亚洲国家癌症基因检测的可及性，且对心理社会结果无显著影响。
Oncologist-led counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes.
作者信息
Yoon Sook-Yee, Wong Siu Wan, Lim Joanna, Ahmad Syuhada, Mariapun Shivaani, Padmanabhan Heamanthaa, Hassan Nur Tiara, Lau Shao Yan, Ch'ng Gaik-Siew, Haniffa Muzhirah, Ong Winnie P, Rethanavelu Kavitha, Moey Lip Hen, Keng Wee Teik, Omar Jamil, Mohd Abas Mohd Norazam, Yong Chee Meng, Ramasamy Vickneswaren, Md Noor Mohd Rushdan, Aliyas Ismail, Lim Michael C K, Suberamaniam Anuradha, Mat Adenan Noor Azmi, Ahmad Zatul Akmar, Ho Gwo Fuang, Abdul Malik Rozita, Subramaniam Suguna, Khoo Boom Ping, Raja Arivendran, Chin Yeung Sing, Sim Wee Wee, Teh Beng Hock, Kho Swee Kiong, Ong Eunice S E, Voon Pei Jye, Ismail Ghazali, Lee Chui Ling, Abdullah Badrul Zaman, Loo Kwong Sheng, Lim Chun Sen, Lee Saw Joo, Lim Keng Joo Lim, Shafiee Mohamad Nasir, Ismail Fuad, Latiff Zarina Abdul, Ismail Mohd Pazudin, Mohamed Jamli Mohamad Faiz, Kumarasamy Suresh, Leong Kin Wah, Low John, Md Yusof Mastura, Ahmad Mustafa Ahmad Muzamir, Mat Ali Nor Huda, Makanjang Mary, Tayib Shahila, Cheah Nellie, Lim Boon Kiong, Fong Chee Kin, Foo Yoke Ching, Mellor Abdullah Matin, Tan Teck Sin, Chow Doris S Y, Ho Kean Fatt, Raman Rakesh, Radzi Ahmad, Deniel Azura, Teoh Daren C Y, Ang Soo Fan, Joseph Joseph K, Ng Paul Hock Oon, Tho Lye-Mun, Ahmad Azura Rozila, Muin Ileena, Bleiker Eveline, George Angela, Thong Meow-Keong, Woo Yin Ling, Teo Soo Hwang
机构信息
Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia
Genetic Counselling, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
出版信息
J Med Genet. 2022 Mar;59(3):220-229. doi: 10.1136/jmedgenet-2020-107416. Epub 2021 Feb 1.
BACKGROUND
Identifying patients with 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 or 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.
背景
识别携带基因突变的患者对于了解潜在的治疗反应以及患者及其亲属的风险管理具有重要的临床意义。然而，传统的转诊途径可能无法满足临床需求，因此，在一些高收入和健康素养较高的地区，癌症遗传学主流化已被证明是有效的。迄今为止，尚无研究报道在低收入和中等收入地区进行主流化的可行性，因为这些地区的服务考量和健康素养可能会对主流化的可行性产生不利影响。
方法
卵巢癌患者遗传咨询主流化（MaGiC）研究是一项前瞻性双臂观察性研究，比较肿瘤学家主导的咨询和遗传学专家主导的咨询。该研究纳入了来自马来西亚23个地点的790名多民族卵巢癌患者。我们比较了不同遗传咨询方式对基因检测接受率的影响，并评估了卵巢癌患者的可行性、知识水平和满意度。
结果
肿瘤学家对主流化体验感到满意，95%的人表示希望将检测纳入他们的临床实践。主流化组和遗传学组的基因检测接受率相似（分别为80%和79%）。患者满意度较高，而研究的两组中决策冲突和心理影响都较低。值得注意的是，尽管决策冲突低于阈值，但主流化组的决策冲突高于遗传学组。总体而言，13.5%的患者在BRCA1或BRCA2中有致病性变异，两组中携带者的社会心理指标没有差异。
结论
MaGiC研究表明，在资源匮乏和中等资源的亚洲环境中，癌症遗传学主流化是可行的，并且提高了基因检测的覆盖率。
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