年长的研究参与者为了年轻的亲属的利益而获得基因结果。

IF 4.6 2区 生物学 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY
Amanda M Willis, Florence Chiew, Philomena Horsley, Sommon Klumsathian, Ezekiel Ling, Chris Jacobs, Paul Lacaze, Jane Tiller, Mary-Anne Young
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引用次数: 0

摘要

将医学上可行的基因研究成果返回的好处已得到广泛认可。然而,考虑到老年人(70岁以下)的可操作性降低,对老年人的结果返回存在不确定性。这项研究的目的是评估老年人是否有动力接受遗传结果,主要是为了年轻亲属的利益。对参加阿司匹林减少老年人事件(ASPREE)研究的年龄≥70岁的个体进行半结构化访谈。参与者获得了遗传性乳腺癌和卵巢癌、Lynch综合征或家族性高胆固醇血症基因的医学上可操作的遗传结果。数据分析采用反身性主题分析。16人接受了访谈(平均年龄82岁)。虽然参与者认识到基因结果对自己的可操作性有限,但对年轻家庭成员的感知好处促使他们接受基因发现并与亲戚分享。参与者报告了接受基因结果的积极经历,这得到了他们与ASPREE试验现有关系的支持,并报告说他们的年龄促进了他们对结果的适应。这些发现说明了将基因研究成果回馈给老年研究参与者的积极影响,并表明老年人希望遗传信息有利于他们年轻的家庭成员。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Older research participants are motivated to receive genetic results for the benefit of younger relatives.

The benefit of returning medically actionable genetic research findings is widely recognised. However, there is uncertainty regarding the return of results to older people (>70 years), given the reduced actionability in this age group. The goal of this study was to assess whether older people were motivated to receive genetic results, primarily for the benefit of younger relatives. Semi-structured interviews were conducted with individuals aged ≥70 enrolled in the ASPirin in Reducing Events in the Elderly (ASPREE) study. Participants received medically actionable genetic results in Hereditary Breast and Ovarian Cancer, Lynch syndrome or Familial Hypercholesterolaemia genes. Data were analysed using reflexive thematic analysis. Sixteen individuals were interviewed (mean age 82 years). While participants recognised the limited actionability of the genetic results for themselves, the perceived benefits for younger family members motivated them to receive genetic findings and share with relatives. Participants reported positive experiences of receiving genetic results, underpinned by their existing relationship with the ASPREE trial, and reported that their age promoted their adaptation to results. These findings illustrate positive impact from returning genetic research results to older research participants and suggest that older people desire genetic information to benefit their younger family members.

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来源期刊
European Journal of Human Genetics
European Journal of Human Genetics 生物-生化与分子生物学
CiteScore
9.90
自引率
5.80%
发文量
216
审稿时长
2 months
期刊介绍: The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community. Key areas include: -Monogenic and multifactorial disorders -Development and malformation -Hereditary cancer -Medical Genomics -Gene mapping and functional studies -Genotype-phenotype correlations -Genetic variation and genome diversity -Statistical and computational genetics -Bioinformatics -Advances in diagnostics -Therapy and prevention -Animal models -Genetic services -Community genetics
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