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

Year: 2018
Type: article
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.
Source: Healthcare
DOI: 10.3390/healthcare6030083
Authors: Janet L. Williams, Wendy K. Chung, Alex Fedotov, Krzysztof Kiryluk, Chunhua Weng, John J. Connolly, Margaret Harr, Hakon Hakonarson, Kathleen A. Leppig, Eric B. Larson, Gail P. Jarvik, David L. Veenstra, Christin Hoell, Maureen E. Smith, Ingrid A. Holm, Josh F. Peterson, Marc S. Williams
Institutions: Geisinger Health System, Columbia University, Columbia University Irving Medical Center, Children's Hospital of Philadelphia, University of Pennsylvania, Kaiser Permanente, Kaiser Permanente Washington Health Research Institute, University of Washington, Northwestern University, Boston Children's Hospital, Harvard University, Vanderbilt University
Language: English
Subfield: Genetics
Open Access status: gold
Estimated APC paid: $3,258
Funders: Brigham and Women's Hospital, Children's Hospital of Philadelphia, Vanderbilt University, Northwestern University, University of Washington, Vanderbilt University Medical Center, National Human Genome Research Institute
Awards: G1755266550, G2269233175, G2424387874, G2597118879, G3165348588, G3205030880, The Electronic Medical Records and Genomics (eMERGE) Network Phase III - Coordinating Center (U01), G4109850255, The Clinical Genome Resource - Expert Curation and EHR Integration, G4318545834, Genomic Medicine at Northwestern: Discovery and Implementation, G6849114374, G7107108549, G7446853542, G7637536449, G8267303821, G8618783052, G976707285
OpenAlex ID: W2807495917
FWCI: 1.988
Cites: 15
Cited by: 23
Related to: 10