Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, Washington, USA.
Stanford Center for Biomedical Ethics, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.
Genet Med. 2018 Jul;20(7):737-744. doi: 10.1038/gim.2017.166. Epub 2017 Oct 19.
This study examined challenges faced by families and health providers related to genetic testing for autism spectrum disorder (ASD).
This qualitative study of 14 parents and 15 health providers identified an unstandardized three-step process for families who pursue ASD genetic testing.
Step 1 is the clinical diagnosis of ASD, confirmed by providers practicing alone or in a team. Step 2 is the offer of genetic testing to find an etiology. For those offered testing, step 3 involves the parents' decision whether to pursue testing. Despite professional guidelines and recommendations, interviews describe considerable variability in approaches to genetic testing for ASD, a lack of consensus among providers, and questions about clinical utility. Many families in our study were unaware of the option for genetic testing; testing decisions by parents appear to be influenced by both provider recommendations and insurance coverage.
Consideration of genetic testing for ASD should take into account different views about the clinical utility of testing and variability in insurance coverage. Ideally, policy makers from the range of clinical specialties involved in ASD care should revisit policies to clarify the purpose of genetic testing for ASD and promote consensus about its appropriate use.
本研究探讨了与自闭症谱系障碍（ASD）基因检测相关的家庭和医疗保健提供者所面临的挑战。
本研究对 14 名家长和 15 名医疗保健提供者进行了定性研究，确定了寻求 ASD 基因检测的家庭所经历的非标准化的三步过程。
第一步是 ASD 的临床诊断，由单独或团队行医的提供者确认。第二步是提供基因检测以寻找病因。对于那些被提供检测的人，第三步涉及父母是否决定进行检测。尽管有专业指南和建议，但访谈描述了 ASD 基因检测方法存在相当大的差异，提供者之间缺乏共识，以及对临床效用的质疑。我们研究中的许多家庭都不知道基因检测的选择；父母的检测决策似乎受到提供者建议和保险覆盖范围的影响。
考虑对 ASD 进行基因检测时，应考虑到对检测临床效用的不同看法以及保险覆盖范围的差异。理想情况下，涉及 ASD 护理的一系列临床专业的政策制定者应重新审视政策，以明确 ASD 基因检测的目的，并就其合理使用达成共识。
