Latest from the G2MC Working Groups

G2MC Working Groups were formed to focus on specific initiatives critical to advancing the G2MC mission while supporting the activities of developing G2MC Flagship Projects. Continue reading for the latest updates on working group activities, including takeaways from the 5th Global Genomic Medicine Virtual Conference Breakout Sessions. 

If you are interested in being a part of one of the G2MC Working Groups below, please submit your interest using the Join Our Community form.

Education Working Group

The Education Working Group is led by G2MC Steering Team members Bruce Korf and Richard Haspel, and G2MC Executive Team member Vajira Dissanayake. The mission of the Education Working Group is to assess and facilitate educational activities to prepare providers in implementation of genomic medicine in clinical practice. Specifically, the group aims to develop courses, case studies, assessment tools and other educational resources; collaborate with other educational groups and organizations to develop educational resources and expand outreach opportunities; develop programs that support the G2MC Flagship Projects; and engage and involve young investigators along the way. 

In April 2020, the Education Working Group launched the G2MC Education Needs Assessment Survey. The survey was sent to all G2MC members and to all participants in the virtual meeting. The overall goal of the survey is to use the information collected to determine the best ways to internationally implement educational programs in genetics and genomics for health care professionals, by understanding the existing resources and needs on a country-by-country basis. Additionally, the results will serve as a foundation for the Education Working Group in identifying opportunities, developing resources, and establishing projects moving forward. The survey may also be published, making it available for use by other institutions. 

During the May 6 G2MC International Virtual Conference Education Breakout Session, preliminary results from the education needs survey were shared with session attendees. From the session, it was determined that valuable data could also be obtained from conference participants who weren’t necessarily G2MC members, resulting in the survey being reopened and shared with all Virtual Conference registrants. The new data will be analyzed and results are expected to be shared during the next scheduled conference. Also during the breakout session, participants discussed elements of the postponed Genomic Medicine Immersion Course – an interactive, educational session for local clinicians that was planned to take place during the originally scheduled conference in Santiago. A wide interest was expressed by breakout session attendees to be involved in the planning and implementation of the course, and as a result, the Education Working Group will involve these participants in future planning meetings.

Moving forward, the Education Working Group will continue to evaluate survey data with the goal of determining areas in most need of genomic medicine education, training, and resources. There are also opportunities for collaboration with the G2MC Policy Working Group as well as the Rare Diseases Flagship Project.

Evidence Working Group

The Evidence Working Group is led by G2MC Steering Committee members Marc Abramowicz and Fahd Al-Mulla. The group aims to monitor evidence of 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.

To carry out its mission, the Evidence Working Group has begun assessing currently available evidence of the clinical utility of genomic medicine. Literature is widely available on monogenic disorders – those that can be detected through a single gene or chromosome variant such as Down Syndrome or Cystic Fibrosis – and clinical utility has been amply demonstrated in this area. However, evidence is scarce for polygenic predisposition – disorders such as Coronary Heart Disease, Multiple Sclerosis, diabetes, and depression, where there is no single major gene variant. Thus, the Evidence Working Group is focusing its efforts to develop better search methods for evidence related to the clinical utility of genomic medicine as related to polygenic predisposition and methods for actively monitoring and promoting new evidence as it becomes available. 

During the May 6 G2MC International Conference Virtual Breakout Sessions, the Evidence Working Group convened with interested conference attendees to begin establishing a list of multigenic/multifactorial diseases for which the group will aim to monitor evidence and which will serve as seeding points to elaborate semi-automated literature searches for evidence of clinical utility of genomic medicine. The group also searched existing literature using specified keywords to determine which searches returned studies specific to the clinical utility of genomic medicine in the case of a multigenic/multifactorial disorders. 

By fall 2020, The Evidence Working Group plans to have a snapshot of the current evidence of the clinical utility of genomic medicine in polygenic disorders ready for publication. The group is also in the process of partnering with CSIRO to develop a semi-automated search mechanism which will use a specific algorithm to allow for better refined searches in the areas deemed significant by the Working Group. This approach will allow the group to actively monitor emerging evidence from the literature and clinical trials and provide regular updates to G2MC and other partner organizations. The development of the search tool is expected to be completed by 2022.

Policy Working Group

The G2MC Policy Working Group, led by G2MC Co-Chair Catalina Lopez-Correa and G2MC members Sue Hill and Laura Rodriguez, seeks to analyze global policy issues surrounding the implementation of genomic tools and knowledge into health care delivery. As the field of genomic medicine continues to rapidly evolve, emphasis is being placed on collecting genetic and biological information and sharing it broadly, leading to integrated research and better methods for diagnosing and treating health care conditions. However, policy surrounding genomic data collection and sharing methods is lacking, particularly in low and middle income countries (LMICs). Furthermore, unethical and inequitable use and sharing of data can, and has, resulted in countries and institutions restricting the sharing of data outside of their institution or country’s borders, limiting the potential benefits this data could provide to research and health care.  

To address these concerns, the G2MC Policy Working Group has merged efforts with  Australian Genomics, The University of Queensland Australia, and Queensland Genomics to perform a landscape analysis to determine how countries are implementing policies in large-scale genomic health projects across the globe. The result was an online catalogue that currently maps 64 initiatives from over 35 locations, providing information on policies and strategies, implementation frameworks, demonstration projects, and population-scale studies, in a repository that can be widely accessed, shared, and contributed to.

Additionally, Elissa Prichep, G2MC member and Precision Medicine Lead with the World Economic Forum, is leading the Leapfrogging with Precision Medicine workstream, and has engaged the G2MC Policy Working Group on the effort. Key outputs of the workstream are 1) a whitepaper with a high level, forward-looking, scalable policy framework and exploration of six ethical tensions; and 2) a companion guide presenting case studies and key questions on each ethical tension. These documents will be published in summer 2020.

During the May 6 G2MC International Conference Virtual Breakout Sessions, the Policy Working Group convened with session attendees to share the work being done by the group to gather feedback and to discuss potential opportunities for collaboration. Session participants also discussed existing and needed genomic medicine policies specific to their countries or institutions. Many attendees expressed an interest in collaborating with the Working Group and in particular assisting with the continuation of the landscape analysis.

Moving forward, the Policy Working Group will continue to expand upon the landscape analysis, explore potential collaborations and initiatives for growing the online catalogue of global genomic medicine initiatives, begin developing a roadmap for implementation of genomic medicine which will outline policy issues for consideration, and continue to identify opportunities for supporting the G2MC Flagship Projects.