Zierhut Heather, McCarthy Veach Patricia, LeRoy Bonnie
Department of Genetics, Cell Biology, and Development, University of Minnesota - Twin Cities, Minneapolis, Minnesota.
Department of Educational Psychology, University of Minnesota - Twin Cities, Minneapolis, Minnesota.
Am J Med Genet A. 2015 Nov;167A(11):2647-56. doi: 10.1002/ajmg.a.37262. Epub 2015 Jul 29.
Public interest in personal whole genome sequencing is increasing. The technology is publicly available and is being used as an educational tool in higher education. Empirical evidence regarding its utility is vital. The goals of this study were to characterize the process of whole genome sequencing in a population of medical and basic science professionals undergoing whole genome sequencing as a part of an educational symposium. Thirty-eight individuals completed one or more surveys from the time of informed consent for whole genome sequencing to 3 months post-symposium. The four surveys assessed demographics, decision-making, communication, decision regret, and personal and professional impact. The most prevalent motivation to participate was professional enhancement, followed by curiosity about the technology, and personal health benefits. The most important initial impact concerned medical implications. Over time, however, impact on professional development was greater than on personal health. Anticipated reactions to receiving whole genome sequencing results generally matched participants' actual reactions and decision regret remained low over time. Benefits and risks of whole genome sequencing included medically actionable results and misunderstanding by healthcare providers. Whole genome sequencing generally had a positive impact professionally and personally on participants. Further education of providers and the public about whole genome sequencing and psychosocial support is warranted.
公众对个人全基因组测序的兴趣与日俱增。这项技术已向公众开放,并在高等教育中用作一种教育工具。关于其效用的实证证据至关重要。本研究的目的是描述在作为教育研讨会一部分而接受全基因组测序的医学和基础科学专业人员群体中全基因组测序的过程。38名个体从全基因组测序知情同意之时到研讨会结束后3个月完成了一项或多项调查。这四项调查评估了人口统计学、决策制定、沟通、决策后悔以及个人和职业影响。参与的最普遍动机是职业提升,其次是对该技术的好奇以及个人健康受益。最重要的初始影响涉及医学意义。然而,随着时间的推移,对职业发展的影响大于对个人健康的影响。对收到全基因组测序结果的预期反应通常与参与者的实际反应相符,并且随着时间的推移决策后悔程度仍然较低。全基因组测序的益处和风险包括具有医学可操作性的结果以及医疗服务提供者的误解。全基因组测序总体上对参与者的职业和个人产生了积极影响。有必要对医疗服务提供者和公众进行关于全基因组测序的进一步教育以及提供心理社会支持。