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Healthcare (Basel). 2018 Jul 13;6(3). pii: E83. doi: 10.3390/healthcare6030083.

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

Author information

1
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA. Jlwilliams3@geisinger.edu.
2
Departments of Pediatrics and Medicine, Columbia University, New York, NY 10025, USA. wkc15@cumc.columbia.edu.
3
Irving Institute for Clinical and Translational Research, Columbia University, New York, NY 10025, USA. avf2117@cumc.columbia.edu.
4
Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10025, USA. kk473@cumc.columbia.edu.
5
Department of Biomedical Informatics, Columbia University, New York, NY 10025, USA. chunhua@columbia.edu.
6
Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. connollyj1@chop.edu.
7
Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. harrm@email.chop.edu.
8
Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. hakonarson@email.chop.edu.
9
Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. hakonarson@email.chop.edu.
10
Genetic Services, Kaiser Permanente of Washington, Seattle, WA 98101, USA. leppig.k@ghc.org.
11
Kaiser Permanente Washington Health Research Institute, Seattle, WA 98101, USA. larson.e@ghc.org.
12
Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, WA 98195, USA. gjarvik@medicine.washington.edu.
13
Department Pharmacy, University of Washington, Seattle, WA 98195, USA. veenstra@uw.edu.
14
Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA. christin.hoell@northwestern.edu.
15
Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA. m-smith6@northwestern.edu.
16
Division of Genetics and Genomics, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA. Ingrid.Holm@childrens.harvard.edu.
17
Departments of Biomedical Informatics and Medicine, School of Medicine, Vanderbilt University, Nashville, TN 37232, USA. josh.peterson@Vanderbilt.Edu.
18
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA. mswilliams1@geisinger.edu.

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.

KEYWORDS:

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

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