Genomic variant sharing: a position statement
File(s)Genomic variant sharing a position statement.pdf (3.37 MB)
Published version
Author(s)
Type
Journal Article
Abstract
<ns4:p>Sharing de-identified genetic variant data 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, as well as population controls. 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 <ns4:italic>not</ns4:italic> sharing them, are numerous and well-established. Databases and mechanisms already exist to facilitate deposition and sharing of pseudonomised 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 individual genetic variants associated with limited clinical information should become standard practice in genomic medicine. Information robustly linking genetic variants with specific conditions is fundamental biological knowledge, not personal information, 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 clinical interpretation, it may be more appropriate to use a controlled-access model for data sharing, with the ultimate aim of making as much information as open and de-identified as possible with appropriate consent.</ns4:p>
Date Issued
2019-12-04
Date Acceptance
2019-02-05
Citation
Wellcome Open Research, 2019, 4, pp.22-22
ISSN
2398-502X
Publisher
F1000 Research Ltd
Start Page
22
End Page
22
Journal / Book Title
Wellcome Open Research
Volume
4
Copyright Statement
© 2019 Wright CF et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/31886409
Subjects
data ethics
data sharing
medical genomics
variant
Publication Status
Published online
Coverage Spatial
England
Article Number
ARTN 22
Date Publish Online
2019-02-05