Combining health records and genome sequencing for precision medicine
Wednesday, 4 January 2017
A new collaborative study identifies rare mutations and disease causing genetic variants through the linkage of sequencing data from participants and their electronic health records.
The DiscovEHR study, a collaboration between the Regeneron Genetics Centre and Geisinger Health System, is the largest of its kind so far.
By sequencing the exome (the part of the genome that codes for proteins) of 50,762 participants, and using patients’ de-identified electronic health records (EHRs) provided by Geisinger to match clinically documented phenotype data with sequencing data, researchers found over four million single nucleotide variants, insertions and deletions. Of these, 176,000 were predicted to cause a partial or complete loss of gene function. By linking the rare variants with clinical phenotypes documented in participant’s EHRs, the team was able to better understand the consequences of this presumed loss of function. The researchers estimated that 3.5% of the participants had one or more mutations associated with one of 76 clinically-actionable diseases.
A more detailed look at participants with three genes known to contribute to Familial Hypercholesterolemia which causes abnormally high cholesterol levels and potentially severe early heart disease – found that of the 229 participants with the known variants, only 58% were currently receiving treatment, and less than 50% were taking the correct dosage.
David J Carey, co-author describes the research as "an important step forward for precision medicine", one that other precision medicine efforts might wish to consider using as a blueprint.
Public Health Genomics Knowledge Base (v1.2)
Last Posted: Jan-06-2017 0PM
Electronic Health Records expanded expanded
Last Posted: Jan 05, 2017
- Combining health records and genome sequencing for precision medicine
J. Harris, PHG Foundation, January 4, 2017 - Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
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From CDC Information Database
This database includes general CDC public health information on specific diseases and health related topics. When available, the database displays genomic information from various CDC web pages. Users are also encouraged to conduct searches of CDC website for additional information.
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From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
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From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
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[Disease: Stroke|Heart Disease|Familial Hypercholesterolemia; Type: Data|Policy|Program; State: Texas]
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
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