Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Genetics Education and Health Research, Murdoch Children's Research Institute, Melbourne, Australia.
Eur J Hum Genet. 2018 Aug;26(8):1101-1112. doi: 10.1038/s41431-018-0151-1. Epub 2018 Apr 30.
Personal genomic testing provides healthy individuals with access to information about their genetic makeup for purposes including ancestry, paternity, sporting ability and health. Such tests are available commercially and globally, with accessibility expected to continue to grow, including in Australia; yet little is known of the views/expectations of Australians. Focus groups were conducted within a multi-stage, cross-disciplinary project (Genioz) to explore this. In mid-2015, 56 members of the public participated in seven focus groups, allocated into three age groups: 18-24, 25-49, and ≥50 years. Three researchers coded transcripts independently and generated themes. Awareness of personal genomic testing was low, but most could deduce what "personal genomics" might entail. Very few had heard of the term "direct-to-consumer" testing, which has implications for organisations developing information to support individuals in their decision-making. Participants' understanding of genetics was varied and drawn from several sources. There were diverse perceptions of the relative influence of genetics and environment on health, mental health, behavior, talent, or personality. Views about having a personal genomic test were mixed, with greater interest in health-related tests if they believed there was a reason for doing so. However, many expressed scepticisms about the types of tests available, and how the information might be used; concerns were also raised about privacy and the potential for discrimination. These exploratory findings inform subsequent stages of the Genioz study, thereby contributing to strategies of supporting Australians to understand and make meaningful and well-considered decisions about the benefits, harms, and implications of personal genomic tests.
个人基因组测试为健康个体提供了获取其基因构成信息的途径，目的包括了解祖先、亲子关系、运动能力和健康状况。此类测试可在商业和全球范围内获得，预计其可及性将继续增加，包括在澳大利亚；然而，人们对澳大利亚人的看法和期望知之甚少。焦点小组在一个多阶段、跨学科的项目（Genioz）中进行，以探讨这一问题。2015 年年中，56 名公众参加了 7 个焦点小组，分为 3 个年龄组：18-24 岁、25-49 岁和≥50 岁。3 名研究人员独立对转录本进行编码并生成主题。公众对个人基因组测试的认识很低，但大多数人可以推断出“个人基因组学”可能涉及的内容。很少有人听说过“直接面向消费者”的测试，这对开发信息以支持个人做出决策的组织有影响。参与者对遗传学的理解各不相同，并且来自多个来源。他们对遗传和环境对健康、心理健康、行为、才能或个性的相对影响有不同的看法。对进行个人基因组测试的看法不一，如果他们认为有理由进行测试，则对与健康相关的测试更感兴趣。然而，许多人对可用的测试类型以及如何使用信息表示怀疑；他们还对隐私和潜在歧视表示担忧。这些探索性发现为 Genioz 研究的后续阶段提供了信息，从而为支持澳大利亚人了解和做出有意义和深思熟虑的决定的策略做出了贡献，这些决定涉及个人基因组测试的益处、危害和影响。
