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Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633.

ClinGen's GenomeConnect registry enables patient-centered data sharing.

Author information

1
Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.
2
Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.
3
Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
4
Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.
5
National Center for Biotechnology Information, Bethesda, Maryland.
6
Invitae, San Francisco, California.
7
The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.
8
Harvard Medical School, Boston, Massachusetts.
9
Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan.

Abstract

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.

KEYWORDS:

ClinGen; ClinVar; genomic data sharing; matchmaking; patient registry; variant interpretation

PMID:
30311371
PMCID:
PMC6188701
[Available on 2019-11-01]
DOI:
10.1002/humu.23633

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