Proposed outcomes measures for state public health genomic programs

Genet Med. 2018 Sep;20(9):995-1003. doi: 10.1038/gim.2017.229. Epub 2018 Jan 4.


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.

Keywords: Lynch syndrome; hereditary breast and ovarian cancer; implementation science; outcome measures; public health genomics.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Evidence-Based Medicine / methods
  • Genomics / methods*
  • Genomics / standards
  • Humans
  • Neoplastic Syndromes, Hereditary / diagnosis
  • Neoplastic Syndromes, Hereditary / genetics
  • Outcome Assessment, Health Care / standards*
  • Public Health / methods*
  • Public Health Practice
  • Treatment Outcome