Preprint Article Version 1 This version is not peer-reviewed

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

Version 1 : Received: 30 May 2018 / Approved: 31 May 2018 / Online: 31 May 2018 (11:27:23 CEST)

A peer-reviewed article of this Preprint also exists.

Williams, J.L.; Chung, W.K.; Fedotov, A.; Kiryluk, K.; Weng, C.; Connolly, J.J.; Harr, M.; Hakonarson, H.; Leppig, K.A.; Larson, E.B.; Jarvik, G.P.; Veenstra, D.L.; Hoell, C.; Smith, M.E.; Holm, I.A.; Peterson, J.F.; Williams, M.S. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare 2018, 6, 83. Williams, J.L.; Chung, W.K.; Fedotov, A.; Kiryluk, K.; Weng, C.; Connolly, J.J.; Harr, M.; Hakonarson, H.; Leppig, K.A.; Larson, E.B.; Jarvik, G.P.; Veenstra, D.L.; Hoell, C.; Smith, M.E.; Holm, I.A.; Peterson, J.F.; Williams, M.S. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare 2018, 6, 83.

Journal reference: Healthcare 2018, 6, 83
DOI: 10.3390/healthcare6030083

Abstract

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can be used across different programs to evaluate the impact of interventions targeted to specific genetic conditions. The eMERGE Outcomes working group (OWG) developed measures to collect information on outcomes following the return of genomic results to participants for several genetic disorders. These outcomes were compared to outcome intervention pairs for genetic disorders developed independently by the ClinGen Actionability working group (AWG). In general, there was concordance between the defined outcomes between the two groups. The ClinGen outcomes tended to be higher level and the AWG scored outcomes represented a subset of outcomes referenced in the accompanying AWG evidence review. eMERGE OWG outcomes were more detailed and discrete, facilitating collection of relevant information from health records. This paper demonstrates that common outcomes for genomic medicine interventions can be identified. Further work is needed to standardize outcomes across genomic medicine implementation projects and make these publicly available to enhance dissemination and assist in making precision public health a reality.

Subject Areas

genomics; genomic medicine; health outcomes; evidence; standards; eMERGE; ClinGen; precision public health

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our diversity statement.

Leave a public comment
Send a private comment to the author(s)
Views 0
Downloads 0
Comments 0
Metrics 0


×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.