Article | Published:

Proposed outcomes measures for state public health genomic programs

Genetics in Medicinevolume 20pages9951003 (2018) | Download Citation




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.


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.


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


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.

Access optionsAccess options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.


  1. 1

    National Academies of Sciences, Engineering, and Medicine. Genomics and Population Health—A Precision and Public Health Activity. Accessed 30 January 2017.

  2. 2

    Proctor EK, Landsverk J, Aarons G et al. Implementation research in mental health services: an emerging science with conceptual, methodological, and training challenges. Adm Policy Ment Health 2009;36:24.

  3. 3

    Institute of MedicineCrossing the Quality Chasm: A New Health System for the 21st Century. National Academies Press: Washington, DC, 2001.

  4. 4

    Evaluation of Genomic Applications in Practice and Prevention Working Group. Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35–41.

  5. 5

    Moyer VA. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. Ann Intern Med 2014;160:271–281.

  6. 6

    US Department of Health and Human Services, Office of Disease Prevention and Health Promotion. Healthy People 2020. Accessed 9 February 2017.

  7. 7

    Silvey K, Stock J, Hasegawa LE, Au SM. Outcomes of genetics services: creating an inclusive definition and outcomes menu for public health and clinical genetics services. Am J Med Genet 2009;151C:207–213.

  8. 8

    Centers for Disease Control and Prevention. National Public Health Performance Standards Program (NPHPSP): 10 Essential Public Health Services. Accessed 21 September 2017.

  9. 9

    Centers for Disease Control and PreventionBehavioral Risk Factor Surveillance System Survey Data. Department of Health and Human Services, Centers for Disease Control and Prevention: Atlanta, GA Accessed 21 September 2017.

  10. 10

    Michigan Department of Health and Human Services. Michigan’s Cancer Genomics Program.,5885,7-339-73971_4911_4916_47257_68337-354431--,00.html. Accessed 2 February 2017.

  11. 11

    Fussman C, Schrager J, Duquette D. Breast and Ovarian Cancer Personal/Family History and Genetic Counseling Utilization Among Michigan Women. Michigan BRFSS Surveillance Brief. 2016. Accessed 2 February 2017.

  12. 12

    Yu W, Gwinn M, Dotson WD et al. A knowledge base for tracking the impact of genomics on population health. Genet Med. 2016;18:1312–1314.

  13. 13

    CDC Office of Public Health Genomics. Tier 1 Genomic Applications Toolkit for Public Health Departments. Accessed 9 February 2017.

  14. 14

    National Academies of Sciences, Engineering, and MedicineSystems Practices for the Care of Socially At-Risk Populations. National Academies Press: Washington, DC:, 2016: 17–68.

  15. 15

    Cragun D, Weidner A, Lewis C et al. Racial disparities in BRCA testing and cancer risk management across a population‐based sample of young breast cancer survivors. Cancer 2017;123:2497–2505.

  16. 16

    McCarthy AM, Bristol M, Domchek SM et al. Health care segregation, physician recommendation, and racial disparities in BRCA1/2 testing among women with breast cancer. J Clin Oncol 2016;34:2610–18.

  17. 17

    Blackman DJ, Masi CM. Racial and ethnic disparities in breast cancer mortality: are we doing enough to address the root causes? J Clin Oncol 2006;24:2170–8.

Download references

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


  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


  1. Search for Debra Lochner Doyle MS, LCGC in:

  2. Search for Mindy Clyne MHS, CGC in:

  3. Search for Juan L Rodriguez MPH, MS in:

  4. Search for Deborah L Cragun PhD, MS in:

  5. Search for Laura Senier MPH, PhD in:

  6. Search for Georgia Hurst in:

  7. Search for Kee Chan PhD in:

  8. Search for David A Chambers DPhil in:


The authors declare no conflict of interest.

Corresponding author

Correspondence to Debra Lochner Doyle MS, LCGC.

About this article

Publication history





Further reading