Bachelor of Medicine and Bachelor of Surgery program, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Bachelor of Nursing program, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
J Genet Couns. 2021 Dec;30(6):1640-1648. doi: 10.1002/jgc4.1430. Epub 2021 May 2.
Direct-to-consumer genetic testing (DTCGT) is gaining popularity in Hong Kong (HK). As DTCGT forgoes specialist medical involvement, healthcare professionals have raised concerns regarding its validity, utility, and the public's ability to interpret DTCGT results. Thus, genetic counseling (GC) is recommended to facilitate understanding of DTCGT. This study aimed to investigate HK public's perception toward DTCGT and the importance of GC in DTCGT. A total of 304 HK adults were invited to complete a 37-item survey online. Participants' genomic literacy, understanding and attitude toward DTCGT and GC, and responses to a mock DTCGT scenario were assessed. 48% of participants were aware of DTCGT while 82% indicated an interest. 30% of participants were aware of GC services in HK; 49% were interested in GC services for understanding DTCGT results. Participants scored on average 7.6/11 in the genomic sequencing knowledge scale and were weak in limitations of genomic testing. In the mock DTCGT scenario, 73% of participants expressed concern with the positive results initially. After being explained limitations of DTCGT, 40% of participants reported decreased concern. Reduced perceived helpfulness in medical management and lifestyle modification were also reported by 35% and 27%, respectively. This HK population demonstrated a high level of awareness and interest in DTCGT. As potential DTCGT users, they might experience excess concern and overestimate the usefulness of positive DTCGT results, particularly in medical management. The importance of GC to educate and guide interpretation of DTCGT results is supported; yet the awareness and access of GC services is inadequate in HK.
直接面向消费者的基因检测（DTCGT）在香港（HK）越来越受欢迎。由于 DTCGT 绕过了专业医疗人员的参与，医疗保健专业人员对其有效性、实用性以及公众解读 DTCGT 结果的能力表示担忧。因此，建议进行遗传咨询（GC）以促进对 DTCGT 的理解。本研究旨在调查香港公众对 DTCGT 的看法以及 GC 在 DTCGT 中的重要性。共邀请了 304 名香港成年人在线完成了 37 项调查。评估了参与者的基因组素养、对 DTCGT 和 GC 的理解和态度，以及对模拟 DTCGT 场景的反应。48%的参与者了解 DTCGT，而 82%的参与者表示有兴趣。30%的参与者了解香港的 GC 服务；49%的人有兴趣通过 GC 服务来了解 DTCGT 结果。参与者在基因组测序知识量表上的平均得分为 7.6/11，在基因组测试的局限性方面得分较弱。在模拟 DTCGT 场景中，73%的参与者最初对阳性结果表示担忧。在解释了 DTCGT 的局限性后，40%的参与者表示担忧减少。35%和 27%的参与者分别报告称，他们认为 DTCGT 在医疗管理和生活方式改变方面的帮助程度降低。香港人群对 DTCGT 表现出较高的认识度和兴趣。作为潜在的 DTCGT 用户，他们可能会感到过度担忧，并高估阳性 DTCGT 结果的有用性，尤其是在医疗管理方面。GC 在教育和指导 DTCGT 结果解读方面的重要性得到了支持；然而，香港的 GC 服务的意识和可及性不足。
