Send to

Choose Destination
Genet Med. 2019 Jan;21(1):97-101. doi: 10.1038/s41436-018-0023-7. Epub 2018 Jun 14.

When genomic medicine reveals misattributed genetic relationships-the debate about disclosure revisited.

Author information

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Royal Devon and Exeter Hospital, Exeter, UK.
The Wellcome Centre for Ethics and Humanities/Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, UK.



Accidental discovery of misattributed parentage is an age-old problem in clinical medicine, but the ability to detect it routinely has increased recently as a result of high-throughput DNA sequencing technologies coupled with family sequencing studies. Problems arise at the clinical-research boundary, where policies and consent forms guaranteeing nondisclosure may conflict with standard clinical care.


To examine the challenges of managing misattributed parentage within hybrid translational research studies, we used a case study of a developmentally delayed child with a candidate variant found through a large-scale trio genome sequencing study in which data from unrelated samples were routinely excluded.


We discuss whether genetic parentage should be explicitly confirmed during clinical validation, thus giving greater weight to the diagnosis according to American College of Medical Genetics and Genomics variant interpretation guidelines, and what tensions this approach would create.


We recommend that the possibility of finding and disclosing misattributed parentage should be addressed during the consent or pretest counseling process, and that clinical relevance should determine whether or not to disclose results in the clinic. This proposition has implications for research governance, and implies that it may not always be possible to uphold nondisclosure commitments as investigations move from research to clinical care.


disclosure; family trio; genome sequencing; incidental finding; non-paternity

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center