Sanderson Saskia C, Linderman Michael D, Suckiel Sabrina A, Zinberg Randi, Wasserstein Melissa, Kasarskis Andrew, Diaz George A, Schadt Eric E
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Health Behaviour Research Centre, Department of Epidemiology and Public Health, University College London, London, UK.
Eur J Hum Genet. 2017 Feb;25(3):280-292. doi: 10.1038/ejhg.2016.178. Epub 2017 Jan 4.
Providing ostensibly healthy individuals with personal results from whole-genome sequencing could lead to improved health and well-being via enhanced disease risk prediction, prevention, and diagnosis, but also poses practical and ethical challenges. Understanding how individuals react psychologically and behaviourally will be key in assessing the potential utility of personal whole-genome sequencing. We conducted an exploratory longitudinal cohort study in which quantitative surveys and in-depth qualitative interviews were conducted before and after personal results were returned to individuals who underwent whole-genome sequencing. The participants were offered a range of interpreted results, including Alzheimer's disease, type 2 diabetes, pharmacogenomics, rare disease-associated variants, and ancestry. They were also offered their raw data. Of the 35 participants at baseline, 29 (82.9%) completed the 6-month follow-up. In the quantitative surveys, test-related distress was low, although it was higher at 1-week than 6-month follow-up (Z=2.68, P=0.007). In the 6-month qualitative interviews, most participants felt happy or relieved about their results. A few were concerned, particularly about rare disease-associated variants and Alzheimer's disease results. Two of the 29 participants had sought clinical follow-up as a direct or indirect consequence of rare disease-associated variants results. Several had mentioned their results to their doctors. Some participants felt having their raw data might be medically useful to them in the future. The majority reported positive reactions to having their genomes sequenced, but there were notable exceptions to this. The impact and value of returning personal results from whole-genome sequencing when implemented on a larger scale remains to be seen.
为表面上健康的个体提供全基因组测序的个人结果，通过增强疾病风险预测、预防和诊断，可能会改善健康状况和幸福感，但也带来了实际和伦理挑战。了解个体在心理和行为上的反应，将是评估个人全基因组测序潜在效用的关键。我们进行了一项探索性纵向队列研究，在向接受全基因组测序的个体返回个人结果之前和之后，进行了定量调查和深入的定性访谈。参与者获得了一系列解读结果，包括阿尔茨海默病、2型糖尿病、药物基因组学、罕见病相关变异和血统。他们还获得了原始数据。在基线时的35名参与者中，29名（82.9%）完成了6个月的随访。在定量调查中，与检测相关的困扰程度较低，尽管在1周时高于6个月随访时（Z = 2.68，P = 0.007）。在6个月的定性访谈中，大多数参与者对自己的结果感到高兴或宽慰。少数人感到担忧，特别是关于罕见病相关变异和阿尔茨海默病结果。29名参与者中有2名因罕见病相关变异结果直接或间接寻求临床随访。有几名参与者向医生提及了他们的结果。一些参与者认为拥有原始数据将来可能对他们的医疗有用。大多数人报告对进行基因组测序有积极反应，但也有明显例外。大规模实施全基因组测序返回个人结果的影响和价值仍有待观察。
