Cancer Research Malaysia, Selangor, Malaysia.
Sime Darby Medical Centre, Selangor, Malaysia.
J Genet Couns. 2022 Oct;31(5):1080-1089. doi: 10.1002/jgc4.1579. Epub 2022 Apr 28.
With the advent of poly-ADP-ribose polymerase inhibitor (PARPi) therapies, the focus of genetic testing for breast, ovarian, and other cancers has shifted from risk management to treatment decision-making in high-resource settings. Due to the shortage of genetic counselors worldwide, alternative ways of delivering genetic counseling have been explored, including training nongenetics healthcare professionals (NGHPs) to provide genetic counseling. However, little is known about the feasibility of adopting such models in healthcare settings with insufficient specialists, where population health literacy is low and where access to new therapies may be limited. In this study, we evaluated the attitudes, considerations, and self-efficacy of oncologists, breast surgeons, and general surgeons in mainstreaming breast cancer genetic counseling in Malaysia, a middle-income Asian country with a universal healthcare system. We developed a 32-item survey via a modified Delphi method, which was then distributed via a purposive and network sampling approach. While 77% of respondents expressed interest in providing breast cancer genetic counseling, 85% preferred to refer patients directly to genetic services for genetic counseling and testing. The main considerations for mainstreaming were the cost of genetic testing and PARPi therapy, as well as the availability of support from genetics professionals. Respondents reported a lack of confidence in communicating genetic risk, particularly to patients with poor health literacy, and in the clinical management of patients with variants of uncertain significance. Our results highlight the urgent need to train more NGHPs in providing genetic counseling and testing in low-to-middle income countries, and suggest that the mainstay for genetic counseling in this setting may be for risk management rather than access to PARPi therapy.
随着聚 ADP-核糖聚合酶抑制剂 (PARPi) 治疗的出现,乳腺癌、卵巢癌和其他癌症的基因检测重点已经从风险管理转向了高资源环境中的治疗决策。由于全世界遗传咨询师的短缺,人们一直在探索替代的遗传咨询方式,包括培训非遗传健康专业人员 (NGHP) 以提供遗传咨询。然而,对于在遗传专家不足、人群健康素养较低且新疗法获取可能受限的医疗环境中采用这种模式的可行性,人们知之甚少。在这项研究中,我们评估了马来西亚主流乳腺癌遗传咨询的肿瘤学家、乳腺外科医生和普通外科医生的态度、考虑因素和自我效能。我们通过改良德尔菲法制定了一个 32 项的调查,然后通过有目的和网络抽样的方式进行分发。虽然 77%的受访者表示有兴趣提供乳腺癌遗传咨询,但 85%的人更愿意直接将患者转介到遗传服务机构进行遗传咨询和检测。主流化的主要考虑因素是基因检测和 PARPi 治疗的成本,以及遗传专业人员的支持是否可用。受访者报告称,他们在与健康素养较差的患者沟通遗传风险方面缺乏信心,并且在管理具有不确定意义的变异患者方面缺乏信心。我们的研究结果强调了在中低收入国家培训更多 NGHPs 提供遗传咨询和检测的迫切需要,并表明在这种情况下,遗传咨询的主要重点可能是风险管理,而不是获取 PARPi 治疗。