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Quality of life drives patients' preferences for secondary findings from genomic sequencing.
European Journal of Human Genetics ( IF 5.2 ) Pub Date : 2020-05-18 , DOI: 10.1038/s41431-020-0640-x
Chloe Mighton 1, 2 , Lindsay Carlsson 3, 4 , Marc Clausen 2 , Selina Casalino 2 , Salma Shickh 1, 2 , Laura McCuaig 2, 5 , Esha Joshi 2 , Seema Panchal 6 , Kara Semotiuk 6 , Karen Ott 7 , Christine Elser 4, 5, 6 , Andrea Eisen 7 , Raymond H Kim 4, 5, 6 , Jordan Lerner-Ellis 6, 8 , June C Carroll 6, 9 , Emily Glogowski 10 , Kasmintan Schrader 11, 12 , Yvonne Bombard 1, 2 ,
Affiliation  

There is growing impetus to include measures of personal utility, the nonmedical value of information, in addition to clinical utility in health technology assessment (HTA) of genomic tests such as genomic sequencing (GS). However, personal utility and clinical utility are challenging to define and measure. This study aimed to explore what drives patients' preferences for hypothetically learning medically actionable and non-medically actionable secondary findings (SF), capturing clinical and personal utility; this may inform development of measures to evaluate patient outcomes following return of SF. Semi-structured interviews were conducted with adults with a personal or family cancer history participating in a trial of a decision aid for selection of SF from genomic sequencing (GS) (www.GenomicsADvISER.com). Interviews were analyzed thematically using constant comparison. Preserving health-related and non-health-related quality of life was an overarching motivator for both learning and not learning SF. Some participants perceived that learning SF would help them "have a good quality of life" through informing actions to maintain physical health or leading to psychological benefits such as emotional preparation for disease. Other participants preferred not to learn SF because results "could ruin your quality of life," such as by causing negative psychological impacts. Measuring health-related and non-health-related quality of life may capture outcomes related to clinical and personal utility of GS and SF, which have previously been challenging to measure. Without appropriate measures, generating and synthesizing evidence to evaluate genomic technologies such as GS will continue to be a challenge, and will undervalue potential benefits of GS and SF.

中文翻译:

生活质量驱动着患者对基因组测序的次要发现的偏好。

除了在基因组测试(GS)等基因组测试的健康技术评估(HTA)中的临床效用之外,人们越来越多的动力包括个人效用的度量,信息的非医学价值。但是,个人效用和临床效用在定义和衡量方面具有挑战性。这项研究旨在探讨是什么促使患者偏爱假设地学习具有医学作用和非医学作用的次要发现(SF),从而获得临床和个人用途;这可能有助于制定评估SF返回后患者预后的措施。对有个人或家族癌症史的成年人进行半结构式访谈,参加一项从基因组测序(GS)中选择SF的决策辅助试验(www.GenomicsADvISER.com)。访谈使用固定比较进行专题分析。保持健康相关和非健康相关的生活质量是学习和不学习科幻的首要动机。一些参与者认为,学习SF可以通过通知采取措施维持身体健康或带来心理上的好处(例如为疾病进行情感准备)来帮助他们“拥有良好的生活质量”。其他参与者宁愿不学习SF,因为这样的结果“可能会破坏您的生活质量”,例如造成负面的心理影响。测量健康相关和非健康相关的生活质量可能会获得与GS和SF的临床和个人效用相关的结果,而这在以前一直难以衡量。没有适当的措施,
更新日期:2020-05-18
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