Klitzman Robert, Bezborodko Ekaterina, Chung Wendy K, Appelbaum Paul S
Professor of Psychiatry and Director, Masters of Bioethics Program, Columbia University, New York, NY, USA.
Department of Law Ethics and Psychiatry, Columbia University, New York, NY, USA.
J Community Genet. 2025 Sep 5. doi: 10.1007/s12687-025-00817-z.
Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring's autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children's future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child's immediate needs, seeking more information, seeking bases of comparison in other children, monitoring for future symptoms (and often enlisting others to do so), seeking metaphors and conceptual frameworks to understand uncertainties, making and accepting trade-offs, and participating in research. Several factors influence these uncertainties and responses, including age/life-stage of the child, psychological factors, concerns about the future of the broader healthcare and insurance systems, potential differences due to geography (e.g., local variations in medical, social and educational services available) and scientific background and literacy. Members of a couple also often perceive and respond to these issues differently. These data, the first to examine the ambiguities that arise when receiving genetic diagnoses for their autistic offspring with ID, reveal the key roles of several social factors and have important implications for future research, education of families, and training and practice of healthcare providers, teachers, social service agencies, policymakers and others.
目前，针对自闭症和/或智力残疾（ID），基因检测已成为常规推荐项目，但父母如何应对其中可能涉及的不确定性尚未得到研究。我们采访了28位父母，他们已收到能确定其子女自闭症的新生基因变异检测结果。父母面临六种广泛的模糊性问题，涉及：新生变异的成因、出现医学表现的可能性、孩子未来的独立性和支持需求、未来医疗福利/治疗的可获得性、潜在的社会效益和潜在的社会危害。这些模糊性引发了焦虑/压力。父母试图通过多种方式来应对这些不确定性：关注孩子的即时需求、寻求更多信息、在其他孩子身上寻找比较依据、监测未来症状（通常还会让他人帮忙）、寻求隐喻和概念框架以理解不确定性、做出并接受权衡，以及参与研究。有几个因素会影响这些不确定性及应对方式，包括孩子的年龄/生活阶段、心理因素、对更广泛医疗保健和保险系统未来的担忧、地理因素导致的潜在差异（例如，当地可获得的医疗、社会和教育服务的差异）以及科学背景和文化水平。夫妻双方的成员对这些问题的认知和反应也往往不同。这些数据首次研究了为患有ID的自闭症子女进行基因诊断时出现的模糊性问题，揭示了几个社会因素的关键作用，并对未来研究、家庭教育以及医疗保健提供者、教师、社会服务机构、政策制定者和其他人员的培训与实践具有重要意义。
