A Survey of UK Public Interest in Internet-Based Personal Genome Testing
A Survey of UK Public Interest in Internet-Based Personal Genome Testing
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DOI：
10.1371/journal.pone.0013473
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发表时间：
2010-10-19
期刊：
影响因子：
3.7
通讯作者：
Prainsack, Barbara
中科院分区：
文献类型：
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作者：
Cherkas, Lynn F.;Harris, Juliette M.;Prainsack, Barbara
工作背景：鉴于网上个人基因组测试（Personal Genome Testing，PGT）的商业化应用日益普及，本研究旨在探讨人们考虑进行PGT的原因，以及他们如何使用PGT提供的遗传风险信息。方法/主要发现：一份评估公众对PGT的认识和兴趣以及接受PGT的动机的自我完成问卷，来自英国TwinsUK登记处的050名成年志愿者，年龄在17岁至91岁之间（应答率为62%）。只有13%的受访者知道PGT的存在。在阅读了关于PGT的简短摘要后，二十分之一的参与者（5%）对当前价格（250英镑）可能感兴趣，但如果测试是免费的，这一比例上升到一半（50%）。几乎所有对免费PGT感兴趣的受访者都表示，如果发现他们有高遗传疾病风险，他们会参加测试，以鼓励他们采取更健康的生活方式（93%）。大约五分之四的受访者将进行测试，以向他们的孩子传达遗传风险信息，类似比例的人认为，拥有PGT将使他们的医生能够更密切地监测他们的健康状况。一个TwinsUK研究焦点小组还表示，消费者将咨询他们的家庭医生，以帮助解释结果的PGT.Conclusions/Significance：这一假设的研究表明，增加宣传和降低成本的PGT可能会导致增加摄取，部分驱动的一般公众的愿望，以监测和改善他们的健康。虽然PGT的临床应用的未来程度目前尚不清楚，但消费者充分了解PGT目前的局限性至关重要。我们的研究结果表明，卫生专业人员将不可避免地被要求对经历过PGT的个人作出反应。这对保健服务提供者在费用和时间方面都有影响。
Background: In view of the increasing availability of commercial internet-based Personal Genome Testing (PGT), this study aimed to explore the reasons why people would consider taking such a test and how they would use the genetic risk information provided.Methodology/Principal Findings: A self-completion questionnaire assessing public awareness and interest in PGT and motivational reasons for undergoing PGT was completed by 4,050 unselected adult volunteers from the UK-based TwinsUK register, aged 17 to 91 (response rate 62%). Only 13% of respondents were aware of the existence of PGT. After reading a brief summary about PGT, one in twenty participants (5%) were potentially interested at current prices (250) pound, however this proportion rose to half (50%) if the test was free of charge. Nearly all respondents who were interested in free PGT reported they would take the test to encourage them to adopt a healthier lifestyle if found to be at high genetic risk of a disease (93%). Around 4 in 5 respondents would have the test to convey genetic risk information to their children and a similar proportion felt that having a PGT would enable their doctor to monitor their health more closely. A TwinsUK research focus group also indicated that consumers would consult their GP to help interpret results of PGT.Conclusions/Significance: This hypothetical study suggests that increasing publicity and decreasing costs of PGT may lead to increased uptake, driven in part by the general public's desire to monitor and improve their health. Although the future extent of the clinical utility of PGT is currently unknown, it is crucial that consumers are well informed about the current limitations of PGT. Our results suggest that health professionals will inevitably be required to respond to individuals who have undergone PGT. This has implications for health service providers regarding both cost and time.