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ClinGen's GenomeConnect registry enables patient‐centered data sharing
Author(s) -
Savatt Juliann M.,
Azzariti Danielle R.,
Faucett W. Andrew,
Harrison Steven,
Hart Jennifer,
Kattman Brandi,
Landrum Melissa J.,
Ledbetter David H.,
Miller Vanessa Rangel,
Palen Emily,
Rehm Heidi L.,
Rhode Jud,
Turner Stefanie,
Vidal Jo Anne,
Wain Karen E.,
Riggs Erin Rooney,
Martin Christa Lese
Publication year - 2018
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23633
Subject(s) - data sharing , health information exchange , resource (disambiguation) , genomics , information sharing , knowledge management , data science , health care , computer science , biology , genome , world wide web , medicine , health information , genetics , alternative medicine , computer network , pathology , economics , economic growth , gene
GenomeConnect, the NIH‐funded Clinical Genome Resource (ClinGen) patient registry, engages patients in data sharing to support the goal of creating a genomic knowledge base to inform clinical care and research. Participant self‐reported health information and genomic variants from genetic testing reports are curated and shared with public databases, such as ClinVar. There are four primary benefits of GenomeConnect: (1) sharing novel genomic data—47.9% of variants were new to ClinVar, highlighting patients as a genomic data source; (2) contributing additional phenotypic information—of the 52.1% of variants already in ClinVar, GenomeConnect provided enhanced case‐level data; (3) providing a way for patients to receive variant classification updates if the reporting laboratory submits to ClinVar—97.3% of responding participants opted to receive such information and 13 updates have been identified; and (4) supporting connections with others, including other participants, clinicians, and researchers to enable the exchange of information and support—60.4% of participants have opted to partake in participant matching. Moving forward, ClinGen plans to increase patient‐centric data sharing by partnering with other existing patient groups. By engaging patients, more information is contributed to the public knowledge base, benefiting both patients and the genomics community.