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Proposed outcomes measures for state public health genomic programs

Genetics in Medicinevolume 20pages9951003 (2018) | Download Citation

Subjects

Abstract

Purpose

To assess the implementation of evidence-based genomic medicine and its population-level impact on health outcomes and to promote public health genetics interventions, in 2015 the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine formed an action collaborative, the Genomics and Public Health Action Collaborative (GPHAC). This group engaged key stakeholders from public/population health agencies, along with experts in the fields of health disparities, health literacy, implementation science, medical genetics, and patient advocacy.

Methods

In this paper, we present the efforts to identify performance objectives and outcome metrics. Specific attention is placed on measures related to hereditary breast ovarian cancer (HBOC) syndrome and Lynch syndrome (LS), two conditions with existing evidence-based genomic applications that can have immediate impact on morbidity and mortality.

Results

Our assessment revealed few existing outcome measures. Therefore, using an implementation research framework, 38 outcome measures were crafted.

Conclusion

Evidence-based public health requires outcome metrics, yet few exist for genomics. Therefore, we have proposed performance objectives that states might use and provided examples of a few state-level activities already under way, which are designed to collect outcome measures for HBOC and LS.

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L.S.’s work on this project was supported in part by the National Human Genome Research Institute of the National Institutes of Health, under award 1K01HG006441-01A1. Any opinions, findings, conclusions, or recommendations expressed in this publication are those of the authors and do not necessarily reflect the view of the National Institutes of Health or the Centers for Disease Control and Prevention.

Author information

Affiliations

  1. Screening and Genetics Unit, Washington State Department of Health, Kent, USA, Washington

    • Debra Lochner Doyle MS, LCGC
  2. Division of Cancer Control and Population Sciences, National Cancer Institute, Bethesda, Maryland, USA

    • Mindy Clyne MHS, CGC
    •  & David A Chambers DPhil
  3. Division of Cancer Prevention and Control, Centers for Disease Control and Prevention, Atlanta, Georgia, USA

    • Juan L Rodriguez MPH, MS
  4. College of Public Health, University of South Florida, Tampa, Florida, USA

    • Deborah L Cragun PhD, MS
  5. Department of Sociology & Anthropology and Department of Health Sciences, Northeastern University, Boston, Massachusetts, USA

    • Laura Senier MPH, PhD
  6. I Have Lynch Syndrome, Inc., Evanston, Illinois, USA

    • Georgia Hurst
  7. Department of Health Policy and Administration, School of Public Health, University of Illinois, Chicago, Illinois, USA

    • Kee Chan PhD

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Disclosure

The authors declare no conflict of interest.

Corresponding author

Correspondence to Debra Lochner Doyle MS, LCGC.

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DOI

https://doi.org/10.1038/gim.2017.229

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