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Genomics-Enabled Learning Health Care Systems Gathering and Using Genomic Information to Improve Patient Care and Research: Workshop Summary (2015) / Chapter Skim
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2 Advancing Patient Care and Research with Genomic Information
Pages 9-18

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From page 9...
... (Risch) • Medical information in the EHR coupled with gene sequencing in formation can be used as a discovery tool for identifying genetic var iants associated with disease and for understanding individual response to therapeutics.
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From page 10...
... , which pools genomic information from multiple studies across the Mayo Clinic and uses the information along with phenotype data that have been extracted from the electronic health record (EHR) for association studies.
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From page 11...
... For example, in a study to predict cardiac events using genetic variants in patients receiving clopidogrel, 260 of 591 phenotyping cases were confirmed as "definite cases," or patients who were prescribed clopidogrel following a myocardial infarction or percutaneous coronary and who then experienced one or more recurrent cardiac events (Delaney et al., 2012)
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From page 12...
... (2014) showed that MayoGC can be used successfully as a research tool to study genetic variants associated with bilirubin levels using data from individuals enrolled in three NIH-funded studies at the Mayo Clinic.
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From page 13...
... In addition to the genomic medicine centers, the 100,000 Genomes Project has created the Genomics England Clinical Interpretation Partnership (GeCIP) , which is a mechanism for bringing the National Health Service and academic communities together to use the data that have been collected in order to analyze and assess how the genome dataset could be interpreted for clinical use.
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From page 14...
... is intended to accelerate the adoption and implementation of research results into health care. NOTE: GeCIP, Genomics England Clinical Interpretation Partnership; NHS, National Health Service; NICE, National Institute for Health and Care Excellence; WGS, whole genome sequencing.
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From page 15...
... The goal of the program is to "translate genetic research findings into opportunities for preventive medicine and public health."6 In collaboration with the Harvard Pilgrim Health Care Institute and Children's Hospital, CDC has also developed a real-time national tracking and rapid learning network for public health emergencies, called EHR Support for Public Health, or ESPnet.7 Using data from initiatives such as these in learning systems could provide insights into how information could be used in preventive medicine and improving public health. 4 The Commons, https://pebourne.wordpress.com/2014/10/07/the-commons/#_ftn2 (accessed March 12, 2015)
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From page 16...
... The specific aims of the program, Risch said, are to conduct genome-wide genotyping of more than 675,000 markers on 100,000 participants in RPGEH; to assay telomere lengths for the same 100,000 samples; to develop customized genomewide SNP arrays and use these arrays for genotyping; to merge, with patient consent, the genomic and telomere data with the EHR, survey, and environmental data in a research database; and to provide collaborative access to the data. The group of subjects participating in RPGEH is 58 percent female and has an average age of about 65, said Risch.
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From page 17...
... Genome-wide association studies have led to the identification of more than 600 contributing genetic variants -- approximately one-third of which were novel -- which are associated with a variety of traits and diseases extracted from EHRs, ranging from blood pressure, cholesterol levels, and QT intervals to prostate cancer and diabetes. Data can be accessed in two ways: through a Web portal at Kaiser Permanente, where a committee reviews applications for the use of datasets by qualified researchers, and through dbGaP.9 In 2014, Kaiser Permanente made a large deposit of data into dbGaP -- from 78,000 people who participated in the Genetic Epidemiology Research on Adult Health and Aging project, part of the RPGEH.10 The genetic data are housed in a separate database from the EHR data and are currently available only for research purposes.
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From page 18...
... Potential upgrades could include identifying patient-centered research needs for genomics-enabled health care, with national work plans for who is accountable for answers to priority questions and by what time. PCORI also could engage patient groups, professional societies, health plans, hospital groups, accountable care organizations, and others for the collaborative funding of comparative effectiveness research using fast, affordable rapid learning systems.
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Key Terms

  • patient care
  • rapid learning
  • learning health
  • genomics england
  • mayo clinic

  • genomes project
  • accessed march
  • england clinical
  • clinical interpretation
  • kaiser permanente

  • adult health
  • electronic health
  • health record
  • genomic medicine
  • genetic research

  • epidemiology research
  • using genetic
  • genetic data
  • genome epidemiology
  • genetic epidemiology

  • using data
  • phenotypic data
  • preventive medicine
  • epidemiology network
  • phenotype data

  • interpretation partnership
  • association studies
  • blood pressure
  • cardiac events
  • medical informatics


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