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Genomic variant sharing: A position statement [version 2; peer review: 2 approved]

Genomic variant sharing: A position statement [version 2; peer review: 2 approved]
Genomic variant sharing: A position statement [version 2; peer review: 2 approved]
Sharing de-identified genetic variant data via custom-built online repositories is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test results from other patients, population controls and correlation with clinical context and family history. Errors in this process can result in delayed, missed or erroneous diagnoses, leading to inappropriate or missed medical interventions for the patient and their family. The benefits of sharing individual genetic variants, and the harms of not sharing them, are numerous and well-established. Databases and mechanisms already exist to facilitate deposition and sharing of de-identified genetic variants, but clarity and transparency around best practice is needed to encourage widespread use, prevent inconsistencies between different communities, maximise individual privacy and ensure public trust. We therefore recommend that widespread sharing of a small number of genetic variants per individual, associated with limited clinical information, should become standard practice in genomic medicine. Information confirming or refuting the role of genetic variants in specific conditions is fundamental scientific knowledge from which everyone has a right to benefit, and therefore should not require consent to share. For additional case-level detail about individual patients or more extensive genomic information, which is often essential for individual clinical interpretation, it may be more appropriate to use a controlled-access model for such data sharing, with the ultimate aim of making as much information available as possible with appropriate governance.
Data ethics, Data sharing, Medical genomics, Variant
2398-502X
Wright, Caroline F.
e11a4504-ed0f-4e26-8ee0-4c7f9aecb50c
Ware, James S.
6e99bb22-caf5-489e-aa0a-27c1423a671e
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Hall, Alison
cf89c7f3-9fd5-4df7-a2a3-454841b717f8
Middleton, Anna
8cbe11b6-d21e-4a3b-b809-cedc5d78c6dd
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Firth, Helen V.
68d49660-2394-45e2-a690-c6583c4590dd
Wright, Caroline F.
e11a4504-ed0f-4e26-8ee0-4c7f9aecb50c
Ware, James S.
6e99bb22-caf5-489e-aa0a-27c1423a671e
Lucassen, Anneke M.
2eb85efc-c6e8-4c3f-b963-0290f6c038a5
Hall, Alison
cf89c7f3-9fd5-4df7-a2a3-454841b717f8
Middleton, Anna
8cbe11b6-d21e-4a3b-b809-cedc5d78c6dd
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Firth, Helen V.
68d49660-2394-45e2-a690-c6583c4590dd

Wright, Caroline F., Ware, James S., Lucassen, Anneke M., Hall, Alison, Middleton, Anna, Rahman, Nazneen, Ellard, Sian and Firth, Helen V. (2019) Genomic variant sharing: A position statement [version 2; peer review: 2 approved]. Wellcome Open Research, 4 (22). (doi:10.12688/wellcomeopenres.15090.2).

Record type: Article

Abstract

Sharing de-identified genetic variant data via custom-built online repositories is essential for the practice of genomic medicine and is demonstrably beneficial to patients. Robust genetic diagnoses that inform medical management cannot be made accurately without reference to genetic test results from other patients, population controls and correlation with clinical context and family history. Errors in this process can result in delayed, missed or erroneous diagnoses, leading to inappropriate or missed medical interventions for the patient and their family. The benefits of sharing individual genetic variants, and the harms of not sharing them, are numerous and well-established. Databases and mechanisms already exist to facilitate deposition and sharing of de-identified genetic variants, but clarity and transparency around best practice is needed to encourage widespread use, prevent inconsistencies between different communities, maximise individual privacy and ensure public trust. We therefore recommend that widespread sharing of a small number of genetic variants per individual, associated with limited clinical information, should become standard practice in genomic medicine. Information confirming or refuting the role of genetic variants in specific conditions is fundamental scientific knowledge from which everyone has a right to benefit, and therefore should not require consent to share. For additional case-level detail about individual patients or more extensive genomic information, which is often essential for individual clinical interpretation, it may be more appropriate to use a controlled-access model for such data sharing, with the ultimate aim of making as much information available as possible with appropriate governance.

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More information

Published date: 2019
Keywords: Data ethics, Data sharing, Medical genomics, Variant

Identifiers

Local EPrints ID: 444522
URI: http://eprints.soton.ac.uk/id/eprint/444522
ISSN: 2398-502X
PURE UUID: 19494318-8587-4d43-9f0e-8ab49d5844d8
ORCID for Anneke M. Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 22 Oct 2020 16:33
Last modified: 10 Jan 2022 02:45

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Contributors

Author: Caroline F. Wright
Author: James S. Ware
Author: Alison Hall
Author: Anna Middleton
Author: Nazneen Rahman
Author: Sian Ellard
Author: Helen V. Firth

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