Grimes Haley N, McGowan Michelle L, Sinclair Jessica A, Prows Cynthia A, Lipstein Ellen A, Myers Melanie F
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
J Genet Couns. 2025 Jun;34(3):e70027. doi: 10.1002/jgc4.70027.
Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct-to-consumer testing. However, little is known about young people's reactions to, and perceived future utility of learning genomic information actionable in adulthood. We conducted qualitative interviews with 28 youth ages 15-22 without clinical indications for genetic screening who, through enrollment in a genomic decision-making research study, learned they were carriers of an autosomal recessive condition, or anticipated being carriers but received negative results. Semi-structured interviews occurred virtually between 3 and 16 months after the return of results. Interpretative description guided deductive and inductive coding of transcripts. Of the 28 participants, 21 received positive carrier results, and 7 received negative results. Although some carriers felt the result was unexpected, they expressed relief overall and did not feel worried about their result. Participants with negative results also felt relief about their results. All participants correctly described what a carrier result means, but some carriers could not remember the condition associated with their result. No participant regretted learning personal genomic information, and all reported their results helped them better understand risks to future children. Carriers who perceived the condition for which they were carriers as more severe and/or those familiar with the condition were more likely to remember their result and consider future reproductive options. Carriers also felt testing at their respective age allowed increased familiarity with results and more time to gather information and decide on the personal utility of the information. Our findings suggest early access to genomic information for some youth may allow integration of carrier information over time with minimal adverse effects. More research is needed to assess long-term outcomes among carriers.
尽管历史上的指南一直建议，对于儿童期无法采取行动的疾病，将有关学习基因组信息的决策推迟到成年期，但年轻人通过研究、临床和直接面向消费者的检测，越来越容易获得个人基因组信息。然而，对于年轻人对成年期可采取行动的基因组信息的反应以及他们对其未来效用的认知，我们却知之甚少。我们对28名年龄在15至22岁之间、没有基因筛查临床指征的年轻人进行了定性访谈，这些年轻人通过参与一项基因组决策研究，得知自己是常染色体隐性疾病的携带者，或者预计会成为携带者但结果为阴性。在结果返回后的3至16个月内，我们通过视频进行了半结构化访谈。解释性描述指导了对访谈记录的演绎和归纳编码。在28名参与者中，21人得到了阳性携带者结果，7人得到了阴性结果。尽管一些携带者觉得结果出乎意料，但他们总体上表示宽慰，并不担心自己的结果。结果为阴性的参与者也对自己的结果感到宽慰。所有参与者都正确描述了携带者结果的含义，但一些携带者记不起与自己结果相关的疾病。没有参与者后悔了解个人基因组信息，所有人都表示他们的结果帮助他们更好地了解了对未来孩子的风险。那些认为自己携带的疾病更严重和/或熟悉该疾病的携带者更有可能记住自己的结果并考虑未来的生育选择。携带者还认为在他们各自的年龄进行检测可以增加对结果的熟悉程度，并有更多时间收集信息并决定该信息的个人效用。我们的研究结果表明，一些年轻人早期获取基因组信息可能会随着时间的推移将携带者信息整合起来，且不良影响最小。需要更多的研究来评估携带者的长期结果。
