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

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

Methods
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.

Results
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.

Conclusion
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.
1098-3600
97-101
Wright, Caroline
da28d0d1-0c29-446e-a3b9-fe0f55f89323
Parker, Michael
f08fdd2b-3c14-472f-b222-0ced5bb71bd4
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Wright, Caroline
da28d0d1-0c29-446e-a3b9-fe0f55f89323
Parker, Michael
f08fdd2b-3c14-472f-b222-0ced5bb71bd4
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Wright, Caroline, Parker, Michael and Lucassen, Anneke (2019) When genomic medicine reveals misattributed genetic relationships – the debate about disclosure revisited. Genetics in Medicine, 21 (1), 97-101. (doi:10.1038/s41436-018-0023-7).

Record type: Article

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 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.

Methods
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.

Results
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.

Conclusion
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.

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More information

Submitted date: 2018
Accepted/In Press date: 12 March 2018
e-pub ahead of print date: 14 June 2018
Published date: January 2019

Identifiers

Local EPrints ID: 418945
URI: http://eprints.soton.ac.uk/id/eprint/418945
ISSN: 1098-3600
PURE UUID: c585baf8-7795-4b9f-a616-dfe418f1ce83
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 26 Mar 2018 16:30
Last modified: 10 Jan 2022 05:38

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Contributors

Author: Caroline Wright
Author: Michael Parker
Author: Anneke Lucassen ORCID iD

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