Global Genomic Medicine Consortium (G2MC)
G2MC WORKING GROUPS
Evidence
Monitoring and promoting awareness of evidence that supports genomic medicine.Â
Overview
CO-LEADS
Marc Abramowicz (Belgium)
Fahd Al-Mulla (Kuwait)
MISSION
The Evidence Working Group aims to monitor evidence of the clinical utility of genomic medicine and to promote awareness about current evidence available to support genomic medicine. The ultimate goal is to promote the implementation of genomic medicine worldwide, including in low and middle income countries.
GOALS
- Define criteria for evidence evaluation (e.g., standard definition of a patient’s outcomes).
- Monitor evidence of clinical utility of genomic medicine. Actively monitor emerging evidence.
- Develop a genomic medicine implementation registry for evidence generation.
- Develop measures that can be used across the global community for harmonization and interoperability of data (e.g., phenome; genome, missing data) for evidence-generation studies.
- Promote awareness about the evidence available to support genomic medicine; promote implementation in low and middle income countries.
Publications
WORKING GROUP PUBLICATIONS
Kumuthini, J., Zick, B., Balasopoulou, A. et al. The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. Hum Genet (2022). https://doi.org/10.1007/s00439-022-02452-x
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Overview
Co-Leads
Marc Abramowicz (Belgium)
Fahd Al-Mulla (Kuwait)
Mission
The Evidence Working Group aims to monitor evidence of the clinical utility of genomic medicine and to promote awareness about current evidence available to support genomic medicine. The ultimate goal is to promote the implementation of genomic medicine worldwide, including in low and middle income countries.
Goals
- Define criteria for evidence evaluation (e.g., standard definition of a patient’s outcomes).
- Monitor evidence of clinical utility of genomic medicine. Actively monitor emerging evidence.
- Develop a genomic medicine implementation registry for evidence generation.
- Develop measures that can be used across the global community for harmonization and interoperability of data (e.g., phenome; genome, missing data) for evidence-generation studies.
- Promote awareness about the evidence available to support genomic medicine; promote implementation in low and middle income countries.
Current Activities
- Evidence Review: A team of working group members and other experts was formed in October 2020 and is currently underway in conducting a systematic evidence review of the clinical utility of genomic medicine. The team is tailoring search terms and working with experts on best practices to ensure all relevant evidence is captured. A summary of the review will be prepared for publication upon completion. The group intends to use this data for the development of a semi-automated search mechanism which will use a specific algorithm to allow for better-refined searches in the areas deemed significant by the Evidence Working Group – a projected 2022 outcome.
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