Strong K A, Zusevics K L, Bick D, Veith R
Program in Genomics and Ethics, Center for Bioethics and Medical Humanities, Institute for Health and Society, Medical College of Wisconsin, Milwaukee, WI, USA; Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Clin Genet. 2014 Nov;86(5):461-8. doi: 10.1111/cge.12390. Epub 2014 May 20.
Sequencing of the entire exome or genome is increasingly used in clinical practice. Debate continues, however, regarding which incidental findings (IFs) should be returned and who should be involved in those decisions. Previous empirical research regarding stakeholder attitudes to the return of IFs has primarily involved genetics professionals; non-genetics health professionals have not been widely surveyed. Given this, a survey regarding return of IFs was administered at the Best Practices in Pediatrics Conference following an educational presentation on genetics terminology and genetic condition examples. A total of 258 participants completed the survey. Of particular note, respondents who were positively disposed to sequencing did not always report wanting to learn about IFs, even if actionable. This is noteworthy given recent American College of Medical Genetics and Genomics guidelines recommending particular actionable IF be returned 'without reference to patient preference'. This study's findings are important because they provide insight regarding the attitudes to the return of genome sequencing results for an important professional group, primary care providers. Ultimately, as likely gatekeepers to referrals for this technology, their opinions about the test will be key to its successful deployment.
对整个外显子组或基因组进行测序在临床实践中的应用越来越广泛。然而，关于哪些偶然发现（IFs）应该反馈给患者以及谁应该参与这些决策的争论仍在继续。此前关于利益相关者对反馈偶然发现的态度的实证研究主要涉及遗传学专业人员；非遗传学健康专业人员尚未得到广泛调查。鉴于此，在一次关于遗传学术语和遗传疾病实例的教育讲座之后，在儿科学最佳实践会议上进行了一项关于反馈偶然发现的调查。共有258名参与者完成了该调查。特别值得注意的是，那些对测序持积极态度的受访者并不总是表示希望了解偶然发现，即使这些发现是可采取行动的。鉴于美国医学遗传学与基因组学学会最近的指南建议反馈特定的可采取行动的偶然发现时“无需考虑患者偏好”，这一点值得关注。这项研究的结果很重要，因为它们为一个重要的专业群体——初级保健提供者——对反馈基因组测序结果的态度提供了见解。最终，作为这项技术转诊的可能把关人，他们对该检测的看法将是其成功应用的关键。
