Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Department of Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, NY, United States.
Patient Educ Couns. 2021 Aug;104(8):2073-2079. doi: 10.1016/j.pec.2021.01.030. Epub 2021 Jan 29.
Genomics is increasingly used for diagnostic testing in children. This study describes the expectations of parents whose child received genomic testing and whether or not they were met.
A diverse stratified, purposive sample of parents of 22 children in New York City was interviewed using a semi-structured guide. Genomic test results were positive, negative, or uncertain.
Parents expressed their expectations in narrative and numeric fashion. Parents expected that their child's test would have a direct effect on their child's diagnosis. Some believed that results would be definitive, while others recognized testing limitations. Expectations reflected parents' hope to find a diagnosis and led to disappointment when results were uninformative or did not impact clinical management.
Results suggest pre-test genetic counseling emphasize the low likelihood of actionable results; however, parents' expectations of genomics' diagnostic capabilities are strongly rooted in their need to end the diagnostic odyssey and may be difficult to manage.
Parents' hope for a resolution and effective treatment for their child is a powerful context in which genetic counseling is heard. Clinicians who provide genomic testing should continue to acknowledge parents' preconceptions. Additional research in other settings will help understand how to best address and manage parent expectations of genomic medicine.
基因组学越来越多地用于儿童的诊断测试。本研究描述了接受基因组测试的儿童的父母的期望，以及这些期望是否得到满足。
采用分层、有目的的方法，对纽约市 22 名儿童的父母进行了半结构化访谈。基因组测试结果为阳性、阴性或不确定。
父母以叙述和数字的形式表达了他们的期望。父母希望他们孩子的测试能直接影响他们孩子的诊断。一些人认为结果是明确的，而另一些人则认识到测试的局限性。期望反映了父母寻找诊断的希望，当结果没有提供信息或不影响临床管理时，他们感到失望。
结果表明，检测前遗传咨询强调了可采取行动的结果的可能性较低；然而，父母对基因组学诊断能力的期望强烈根植于他们结束诊断探索的需求，这可能难以管理。
父母希望为孩子找到解决方案和有效的治疗方法，这是遗传咨询被听到的有力背景。提供基因组测试的临床医生应继续承认父母的先入之见。在其他环境中的进一步研究将有助于了解如何最好地解决和管理家长对基因组医学的期望。
