When genomic medicine reveals misattributed genetic relationships – the debate about disclosure revisited
Wright, C; Parker, M; Lucassen, A
Date: 14 June 2018
Journal
Genetics in Medicine
Publisher
Nature Publishing Group
Publisher DOI
Abstract
Purpose: 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 highthroughput
DNA sequencing technologies coupled with family sequencing studies. Problems
arise at the clinical-research boundary, where policies and ...
Purpose: 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 highthroughput
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. Methods: To examine the challenges
of managing misattributed parentage within hybrid translational research studies, we use a
case study of a developmentally delayed child with a candidate variant found through a largescale
trio genome sequencing study in which data from unrelated samples is routinely
excluded. Results: We discuss whether genetic parentage should be explicitly confirmed
during clinical validation, thus giving greater weight to the diagnosis according to ACMG
variant interpretation guidelines, and what tensions this approach would create. Conclusion:
We recommend that the possibility of finding and disclosing misattributed parentage should
be addressed during the consent or pre-test counselling 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.
Institute of Medical Education
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