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Defining and managing incidental findings in genetic and genomic practice

Defining and managing incidental findings in genetic and genomic practice
Defining and managing incidental findings in genetic and genomic practice
The rapidly declining costs and increasing speeds of whole-genome analysis mean that genetic testing is undergoing a shift from targeted approaches to broader ones that look at the entire genome. As whole-genome technologies gain widespread use, questions about the management of so-called incidental findings-those unrelated to the question being asked-need urgent consideration. In this review, we bring together current understanding and arguments about (1) appropriate terminology, (2) the determination of clinical utility and when to disclose incidental findings, (3) the differences in management and disclosure in clinical, research and commercial contexts and (4) ethical and practical issues about familial implications and recontacting those tested. We recommend that greater international consensus is developed around the disclosure and management of incidental findings, with particular attention to when, and how, less clear-cut results should be communicated. We suggest that there is no single term that captures all the issues around these kinds of findings and that different terms may, therefore, need to be used in different settings. We also encourage the use of clear consent processes, but suggest that the absence of consent should not always preclude disclosure. Finally, we recommend further research to identify ways to implement the use of a genome output as a resource, accessible over time, to facilitate appropriate disclosure and recontact when the significance of a previously unclear incidental finding is clarified.
0022-2593
715-723
Shkedi-Rafid, Shiri
0f4001fe-e41a-4b33-9afc-67ef298b7172
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Crawford, Gillian
c49ec103-2936-4897-8f25-96abe25b3a9f
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Shkedi-Rafid, Shiri
0f4001fe-e41a-4b33-9afc-67ef298b7172
Dheensa, Sandi
d7d7e2bb-8def-4fad-9e1d-33d8141a0c9c
Crawford, Gillian
c49ec103-2936-4897-8f25-96abe25b3a9f
Fenwick, Angela
95a1f4fa-7f6f-4c07-a93b-9ea39c231c31
Lucassen, Anneke
2eb85efc-c6e8-4c3f-b963-0290f6c038a5

Shkedi-Rafid, Shiri, Dheensa, Sandi, Crawford, Gillian, Fenwick, Angela and Lucassen, Anneke (2014) Defining and managing incidental findings in genetic and genomic practice. Journal of Medical Genetics, 51 (11), 715-723. (doi:10.1136/jmedgenet-2014-102435). (PMID:25228303)

Record type: Article

Abstract

The rapidly declining costs and increasing speeds of whole-genome analysis mean that genetic testing is undergoing a shift from targeted approaches to broader ones that look at the entire genome. As whole-genome technologies gain widespread use, questions about the management of so-called incidental findings-those unrelated to the question being asked-need urgent consideration. In this review, we bring together current understanding and arguments about (1) appropriate terminology, (2) the determination of clinical utility and when to disclose incidental findings, (3) the differences in management and disclosure in clinical, research and commercial contexts and (4) ethical and practical issues about familial implications and recontacting those tested. We recommend that greater international consensus is developed around the disclosure and management of incidental findings, with particular attention to when, and how, less clear-cut results should be communicated. We suggest that there is no single term that captures all the issues around these kinds of findings and that different terms may, therefore, need to be used in different settings. We also encourage the use of clear consent processes, but suggest that the absence of consent should not always preclude disclosure. Finally, we recommend further research to identify ways to implement the use of a genome output as a resource, accessible over time, to facilitate appropriate disclosure and recontact when the significance of a previously unclear incidental finding is clarified.

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e-pub ahead of print date: 16 September 2014
Published date: 14 October 2014
Organisations: Faculty of Medicine

Identifiers

Local EPrints ID: 369231
URI: http://eprints.soton.ac.uk/id/eprint/369231
ISSN: 0022-2593
PURE UUID: 601d77cb-be8e-4f10-8fbe-a44214f7448e
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

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Date deposited: 30 Sep 2014 11:39
Last modified: 18 Feb 2021 16:58

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Author: Shiri Shkedi-Rafid
Author: Sandi Dheensa
Author: Angela Fenwick
Author: Anneke Lucassen ORCID iD

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