The Role of Electronic Health Records in Advancing Genomic Medicine.
GWAS
PheRS
PheWAS
electronic health records
phenome
translational genomics
Journal
Annual review of genomics and human genetics
ISSN: 1545-293X
Titre abrégé: Annu Rev Genomics Hum Genet
Pays: United States
ID NLM: 100911346
Informations de publication
Date de publication:
31 08 2021
31 08 2021
Historique:
pubmed:
27
5
2021
medline:
26
10
2021
entrez:
26
5
2021
Statut:
ppublish
Résumé
Recent advances in genomic technology and widespread adoption of electronic health records (EHRs) have accelerated the development of genomic medicine, bringing promising research findings from genome science into clinical practice. Genomic and phenomic data, accrued across large populations through biobanks linked to EHRs, have enabled the study of genetic variation at a phenome-wide scale. Through new quantitative techniques, pleiotropy can be explored with phenome-wide association studies, the occurrence of common complex diseases can be predicted using the cumulative influence of many genetic variants (polygenic risk scores), and undiagnosed Mendelian syndromes can be identified using EHR-based phenotypic signatures (phenotype risk scores). In this review, we trace the role of EHRs from the development of genome-wide analytic techniques to translational efforts to test these new interventions to the clinic. Throughout, we describe the challenges that remain when combining EHRs with genetics to improve clinical care.
Identifiants
pubmed: 34038146
doi: 10.1146/annurev-genom-121120-125204
pmc: PMC9297710
mid: NIHMS1822390
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
219-238Subventions
Organisme : NLM NIH HHS
ID : R01 LM010685
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010232
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011166
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR002243
Pays : United States
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