Clinics for Rare Genetic Disorders
Implementing evidence-based exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in low and middle-income countries.
Global Genomic Medicine Consortium (G2MC)
OVERVIEW
G2MC Functional Groups
Working Groups
G2MC maintains three working groups as well as an ad hoc conference planning working group.
Resource Center Working Group
Determine how genomic medicine implementation tools/resources are identified, screened, and shared in the G2MC Resource Center.
Membership Working Group
Determine who can be a member, how to become a member, what is required to maintain membership, and what benefits are included in membership. Grow the membership to include global representation from all countries, especially low- and middle-income countries (LMICs).
Implementation Projects Working Group
Develop an approach and set the standard for what a G2MC Flagship Project is through the development of common templates, guidelines, an application and review process for relevance to G2MC, and a monitoring plan to ensure outcomes and distribution of results to the genomic medicine community.
Conference Planning Working Group
Plan and produce all-member convenings, including in-person and virtual conferences.
Flagship Projects
G2MC currently has two flagship projects that are overseen by the Implementation Projects Working Group.
Flagship Project - Family Health History
- Assist champion healthcare providers in determining local and country-wide family health history needs and capabilities.
- Identify various methods for obtaining family health history data which best fit local needs and capabilities.
- Adopt data standards for wide-scale data input and sharing.
- Investigate available risk assessment algorithms to determine best clinical application.
- Combine family health history with clinical, genomic, and environmental data to create new knowledge for patient care.
Flagship Project - Rare Genetic Disorders
- Based on results from the funded six-site pilot project, develop and implement the project to include more LMIC sites from around the world.
- Evaluate clinical outcomes, provider and patient satisfaction, ethical, social and legal implications, and cost-effectiveness of the intervention.
- Train local clinicians in genomic medicine in the genetic evaluation, result interpretation, and pre and post-test counseling.
Organizational Chart
Flagship Projects
Family Health History
Promoting the benefits of family health history for patient self-knowledge, family sharing, public screening, pre-screening for genetic testing in a clinical setting, and research.
Previous Working Groups
G2MC was originally made up of three Working Groups: Education, Evidence, and Policy. Each group made significant contributions to G2MC, leading to the success and growth of the organization. In 2022, as part of the G2MC Strategic Planning process and as a result of the organization’s continued growth, these groups were dissolved in order to leverage their contributions at a higher level across the parent organization, the Global Genomic Medicine Collaborative.
Education
The Education Working Group aims to assess and facilitate educational activities to prepare providers in the implementation of genomic medicine in clinical practice worldwide.
Evidence
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.
Policy
The Policy Working Group seeks to analyze policy issues in the implementation of genomic tools and knowledge into health care delivery.
