Three clinical experiences with SNP array results consistent with parental incest: a narrative with lessons learned

Area of Science:

• Genetics and Genomics
• Clinical Diagnostics
• Bioethics

Background:

• Single nucleotide polymorphism (SNP) microarrays can detect parental consanguinity, a finding that may be unknown to healthcare providers.
• Consanguinity has profound implications for patient health and family psychosocial well-being, often presenting ethical and legal challenges.
• Unexpected consanguinity results can be difficult for clinicians to manage and communicate.

Purpose of the Study:

• To discuss three cases where SNP microarray analysis identified molecular evidence of parental incest.
• To highlight consanguinity as a potential incidental finding in genomic testing.
• To provide guidance on clinical management and resources for handling such sensitive results.

Main Methods:

• Retrospective case review of three instances where SNP microarray identified parental consanguinity.
• Analysis of clinical team's approach to managing and communicating these incidental findings.
• Identification of helpful resources for healthcare professionals.

Main Results:

• SNP microarray successfully identified molecular evidence of parental incest in three distinct cases.
• The clinical management and communication strategies varied, underscoring the need for standardized approaches.
• Specific resources were identified as beneficial for supporting clinical teams and families.

Conclusions:

• Consanguinity, particularly incest, is a significant incidental finding from SNP microarray analysis with major health and psychosocial consequences.
• Clinical teams require preparation and support to effectively handle and communicate these complex results.
• Collaboration with geneticists and genetic counselors is crucial for non-genetics providers utilizing genomic technologies.