dc.contributor.author | Wright, C | |
dc.contributor.author | Parker, M | |
dc.contributor.author | Lucassen, A | |
dc.date.accessioned | 2018-03-26T15:04:04Z | |
dc.date.issued | 2018-06-14 | |
dc.description.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 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. | en_GB |
dc.description.sponsorship | The authors wish to thank the DDD study (HICF-1009-003) and PAGE project (HICF-R7-
396) for providing inspiration for this paper. MP and the Wellcome Centre for Ethics and
Humanities are supported by a Wellcome Centre Grant (203132/Z/16/Z). AL is supported by
a collaborative award from the Wellcome (208053/Z/17/Z). | en_GB |
dc.identifier.citation | Published online 14 June 2018. | en_GB |
dc.identifier.doi | 10.1038/s41436-018-0023-7 | |
dc.identifier.uri | http://hdl.handle.net/10871/32241 | |
dc.language.iso | en | en_GB |
dc.publisher | Nature Publishing Group | en_GB |
dc.rights.embargoreason | Under embargo until 14 December 2018 in compliance with publisher policy. | en_GB |
dc.rights | © The Author(s) 2018. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. | |
dc.subject | Whole exome sequencing | en_GB |
dc.subject | whole genome sequencing | en_GB |
dc.subject | non-paternity | en_GB |
dc.subject | trio | en_GB |
dc.subject | incidental finding | en_GB |
dc.title | When genomic medicine reveals misattributed genetic relationships – the debate about disclosure revisited | en_GB |
dc.type | Article | en_GB |
dc.identifier.issn | 1098-3600 | |
dc.description | This is the author accepted manuscript. The final version is available from Nature Publishing Group via the DOI in this record. | en_GB |
dc.identifier.journal | Genetics in Medicine | en_GB |