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Healthcare 2018, 6(3), 83; https://doi.org/10.3390/healthcare6030083

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

1
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA
2
Departments of Pediatrics and Medicine, Columbia University, New York, NY 10025, USA
3
Irving Institute for Clinical and Translational Research, Columbia University, New York, NY 10025, USA
4
Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10025, USA
5
Department of Biomedical Informatics, Columbia University, New York, NY 10025, USA
6
Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
7
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
8
Genetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA
9
Kaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA
10
Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA
11
Department Pharmacy, University of Washington, Seattle, WA 98195, USA
12
Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA
13
Division of Genetics and Genomics, Boston Children’s Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
14
Departments of Biomedical Informatics and Medicine, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA
*
Author to whom correspondence should be addressed.
Received: 30 May 2018 / Revised: 27 June 2018 / Accepted: 10 July 2018 / Published: 13 July 2018
(This article belongs to the Special Issue Precision Public Health and Genomic Medicine)
Full-Text   |   PDF [650 KB, uploaded 13 July 2018]   |  

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 from a 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 a collection of relevant information from the 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 to make these publicly available to enhance dissemination and assist in making precision public health a reality. View Full-Text
Keywords: genomics; genomic medicine; health outcomes; evidence; standards; eMERGE; ClinGen; precision public health genomics; genomic medicine; health outcomes; evidence; standards; eMERGE; ClinGen; precision public health
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).
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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.

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