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

Healthcare
Janet L WilliamsMarc S Williams

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 pr...Continue Reading

References

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Jan 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teri A ManolioGeoffrey S Ginsburg
Oct 16, 2015·Nature·Mary V Relling, William E Evans
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Citations

Feb 28, 2019·Annual Review of Genomics and Human Genetics·Marc S Williams
Mar 18, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Michael F MurrayUNKNOWN ACMG Board of Directors
May 21, 2019·American Journal of Human Genetics·Carol R HorowitzSaskia C Sanderson
Apr 8, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christopher LeeIftikhar J Kullo

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Methods Mentioned

BETA
Dissections

Software Mentioned

ClinGen
eMERGEseq
XHMM
Us
eMERGE
REDCap
Phenotype Knowledgebase PheKB
PennCNV
All

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