Stakeholder consultation insights on the future of genomics at the clinical-public health interface

  • Stephen M. Modell
    Reprint requests: Stephen M. Modell, MD, University of Michigan School of Public Health, Center for Public Health and Community Genomics, 4605 SPH Tower, 1415 Washington Heights, Ann Arbor, MI 48109-2029
    Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, Mich

    Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Mich
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  • Sharon L.R. Kardia
    Department of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Mich
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  • Toby Citrin
    Department of Health Management and Policy, University of Michigan School of Public Health, Ann Arbor, Mich
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Published:December 26, 2013DOI:
      In summer 2011, the Centers for Disease Control and Prevention Office of Public Health Genomics conducted a stakeholder consultation, administered by the University of Michigan Center for Public Health and Community Genomics, and Genetic Alliance, to recommend priorities for public health genomics from 2012 through 2017. Sixty-two responses from health professionals, administrators, and members of the public were pooled with 2 sets of key informant interviews and 3 discussion groups. NVivo 9 and manual methods were used to organize themes. This review offers an interim analysis of progress with respect to the final recommendations, which demonstrated a strong interest in moving genomic discoveries toward implementation and comparative effectiveness (T3/T4) translational research. A translational research continuum exists with familial breast and ovarian cancer at one end and prostate cancer at the other. Cascade screening for inherited arrhythmia syndromes and hypercholesterolemia lags stakeholder recommendations in the United States but not in Europe; implementation of health service-based screening for Lynch syndrome, and integration into electronic health information systems, is on pace with the recommended timeline. A number of options exist to address deficits in the funding of translational research, particularly for oncogenomic gene expression profiling. The goal of personalized risk assessment necessitates both research progress (eg, in whole genome sequencing, as well as provider education in the differentiation of low- vs high-risk status. The public health approach supports an emphasis on genetic test validation while endorsing clinical translation research inclusion of an environmental and population-based perspective.


      CDC (Centers for Disease Control and Prevention), CF (cystic fibrosis), CTSA (Clinical and Translational Science Award), EGAPP (Evaluation of Genomic Applications in Practice and Prevention), FHH (family health history), GEP (gene expression profiling), NIH (National Institutes of Health), OPHG (Office of Public Health Genomics), PR (Priorities Report), RFI (Request for Information), SSRI (selective serotonin reuptake inhibitor), UHC (United Healthcare), WGS (whole genome sequencing)
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      Stephen Modell, MD, MS, is the Dissemination Activities Director in the Department of Health Management and Policy at the University of Michigan School of Public Health. His article is based on a presentation given at the Combined Annual Meeting of the Central Society for Clinical and Translational Research and the Midwestern Section American Federation for Medical Research, held in Chicago, Ill, on April 2013.