Helm Benjamin M, Langley Katherine, Spangler Brooke, Vergano Samantha
Department of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters/Eastern Virginia Medical School, 601 Children's Lane, 2nd Floor Pediatrics, Norfolk, VA, 23507, USA,
J Genet Couns. 2014 Aug;23(4):489-95. doi: 10.1007/s10897-013-9669-0. Epub 2013 Nov 13.
Single nucleotide polymorphism microarrays have the ability to reveal parental consanguinity which may or may not be known to healthcare providers. Consanguinity can have significant implications for the health of patients and for individual and family psychosocial well-being. These results often present ethical and legal dilemmas that can have important ramifications. Unexpected consanguinity can be confounding to healthcare professionals who may be unprepared to handle these results or to communicate them to families or other appropriate representatives. There are few published accounts of experiences with consanguinity and SNP arrays. In this paper we discuss three cases where molecular evidence of parental incest was identified by SNP microarray. We hope to further highlight consanguinity as a potential incidental finding, how the cases were handled by the clinical team, and what resources were found to be most helpful. This paper aims to contribute further to professional discourse on incidental findings with genomic technology and how they were addressed clinically. These experiences may provide some guidance on how others can prepare for these findings and help improve practice. As genetic and genomic testing is utilized more by non-genetics providers, we also hope to inform about the importance of engaging with geneticists and genetic counselors when addressing these findings.
单核苷酸多态性微阵列能够揭示医疗服务提供者可能知晓或可能不知晓的父母近亲关系。近亲关系可能对患者的健康以及个人和家庭的心理社会福祉产生重大影响。这些结果常常带来可能产生重要后果的伦理和法律困境。意外的近亲关系可能会让医疗专业人员感到困惑，他们可能没有准备好处理这些结果，也无法将其告知患者家属或其他合适的代表。关于近亲关系和单核苷酸多态性阵列的经验，鲜有公开报道。在本文中，我们讨论了三例通过单核苷酸多态性微阵列鉴定出父母乱伦分子证据的案例。我们希望进一步强调近亲关系作为一种潜在的偶然发现、临床团队如何处理这些案例，以及发现哪些资源最有帮助。本文旨在进一步促进关于基因组技术偶然发现及其临床处理方式的专业讨论。这些经验可能为其他人如何为这些发现做好准备并帮助改进实践提供一些指导。随着非遗传学医疗服务提供者更多地使用基因和基因组检测，我们还希望告知在处理这些发现时与遗传学家和遗传咨询师合作的重要性。
