G2MC Quarterly Newsletter
March 2024
Know of potential funding sources or opportunities? Share them with the G2MC community.
In this edition
- Featured: G2MC Rare Diseases Pilot Project: Patient Impact Story, Johannesburg, South Africa
- Featured Early Career Investigator: Dr Hasani Hewavitharana, Sri Lanka
- G2MC 8th International Conference: Save the Date!
- Organizational Updates and Announcements
- Working Group Updates
- Flagship Project Updates
- Other Genomic Medicine News and Events
Featured Story
G2MC Rare Diseases Pilot Project: Patient Impact Story, Johannesburg, South Africa
The G2MC pilot project “Genomic Medicine Clinics for Rare Genetic Disorders” kicked off in 2021 with funding from the RTW Foundation. In 2023 the project completed its goal of implementing exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in six clinical sites located in Chile, Mexico, Sri Lanka, Malaysia, South Africa, and Nepal.
Below, Dr. Bronwyn Dillon, a Medical Geneticist in Johannesburg, South Africa, shares how this project has significantly impacted the life of one of her patients and their family.
My 9-year-old patient had been on the proverbial ‘diagnostic odyssey’ since she was 2 years old. She had been suffering from progressively worsening muscle weakness and dystonia, and was started on a trial of dopamine medication prior to her diagnosis. The G2MC Rare Diseases pilot project made whole exome sequencing possible for this patient, enabling a genetic diagnosis to be made. She was found to have inherited a heterozygous likely pathogenic variant in GCH1, consistent with a diagnosis of autosomal dominant dopa-responsive dystonia.
The impact of this diagnosis was invaluable as it not only provided support and reassurance to her attending doctors, confirming that she was on the correct treatment plan, but it also identified an affected parent, allowing for their medical surveillance and possible future treatment. Although there is no cure for this condition at the moment, this diagnosis has provided her family with an answer and has also allowed for the identification of other potential at-risk individuals in the family.
The G2MC’s pilot project to extend genetic testing services to regions where access to such level of testing is limited for most, has positively impacted the life of my patient and her family, as well as all of her health care provider’s ability to provide an excellent level of care for her.
The G2MC Rare Diseases pilot project now has the potential to grow, with 20 sites in LMICs interested in providing exome sequencing to local individuals with rare/undiagnosed diseases and building these capacities in their countries. The project is currently looking for funding to further its initiatives. If your organization is interested in funding this project, or if you are aware of a potential funding source, please contact us.
Featured Early Career Investigator (ECI)
G2MC is committed to fostering the growth of Early Career Investigators (ECIs) in the field of genomic medicine. Through the implementation of ECI Forums at our international conferences and our GGMC ECI Subcommittee, we hope to provide opportunities for our members to mentor and cultivate new talent in genomic medicine.
Dr Hasani Hewavitharana, Sri Lanka
For this special edition of our Early Career Investigator (ECI) Series, we’re speaking with Dr Hasani Hewavitharana, whose project was voted Best Presentation at G2MC’s 7th International Conference last October. Dr Hewavitharana is an acting pediatric clinical geneticist serving under the Ministry of Health of Sri Lanka, where she provides clinical genetic services through the largest tertiary care children’s hospital in Sri Lanka. Continue reading to learn more about Dr Hewavitharana’s winning presentation and her current career pursuits.
G2MC 8th International Conference
Save the Date: April 1-3, 2025
We are excited to announce that the G2MC 8th International Conference will take place in Colombo, Sri Lanka on April 1-3, 2025! We are grateful to have the conference chaired by local host Prof. Vajira Dissanayake. Please save these dates on your calendars. The event webpage and registration information will be available on the G2MC website in the coming months.
We would love to see you involved in the conference planning process!
G2MC members have the opportunity to directly participate in developing the scientific program for this 8th edition of the G2MC Conference by sending proposals for sessions/symposia they are ready to lead. Submit your proposal by completing this form by March 24, 2024.
We are currently looking for sponsors for this event. If your organization is interested in being a sponsor, or if you have a contact we can reach out to, please contact us to let us know.
Organizational Updates and Announcements
REMINDER: Funding and Grants Webpage
G2MC members are encouraged to share potential funding opportunities and sources applicable to the implementation of genomic medicine. These will be posted on our website and shared in our newsletters and social media channels, allowing other members the opportunity to consider collaborative proposals to answer them. We have created a Funding and Grants webpage on our website to list these opportunities and funding sources. Please use the submission form below to submit potential funding opportunities and sources to be posted and shared.
Working Group Updates
The following working groups were established in 2023 to help propel G2MC towards its vision of Genomic Medicine for everyone. We are extremely thankful to those who have stepped up to lead these groups and are inspired by the enthusiasm shown by members who will help build these groups from the ground up.
If you are interested in joining any of these groups, please fill out the Join Us/Get Involved Form below to be added to the email listserv and monthly calls.
Resource Center Working Group
Resource Center Working Group Continues Through Planning Stages
The Resource Center Working Group met in March to continue discussing goals, priorities, and next steps for the group. The Resource Center Working Group is charged with building and populating an online “Resource Center” which will serve as a central application and storage solution for various global resources and evidence-based tools and frameworks related to genomic medicine implementation.
With the working group still in its early stages, group members are beginning to draft a Software Requirements document to outline the technical requirements and specifications of the Resource Center. The document will include major system features, processes for uploading and submitting content for inclusion, processes for managing and maintaining content, data storage and security, and more.
At the beginning of the year, group members filled out a survey to identify and prioritize types of content (e.g., educational materials, guidelines and policies, clinical tools) to be included in the Resource Center, as well as other suggestions regarding content. The results from this survey will provide valuable input as the Resource Center is being developed.
The group is also beginning to identify existing resources that can be incorporated into the Resource Center. Once a list of existing resources has been collated by group members, the broader G2MC community will have the opportunity to submit tools and resources for inclusion. The goal for now is to understand what resources exist and how people are using them to identify how they can best fit into the Resource Center.
Interested in joining the Resource Center Working Group? Let us know by filling out the Join Us/Get Involved form and join the next monthly meeting!
Implementation Working Group
Implementation Working Group Developing Process for Supporting G2MC Members' Projects
The Implementation Projects Working Group came together in February 2024 for its first meeting since the groups establishment. Group co-chairs Vajira H. W. Dissanayake, Theodora Katsila, Alan Shuldiner, and Grant Wood have been meeting in prior months to begin establishing the groundwork for the group.
The charge of this group is to develop an approach and set standards 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, as well as policymakers at the local, national, regional and global level.
During the February meeting, a draft “Implementation Project Support Form” was shared with members for review and input. This form would allow G2MC members to share proposed projects or projects that are currently underway so that working group members can help facilitate support, such as identifying funding sources, sharing of knowledge/skills/expertise, and identifying synergies with other projects. The working group will continue to develop and refine the form with the goal of making it available for use in the coming months.
Flagship Project Updates
G2MC currently has two flagship projects that report to the Implementation Projects Working Group.
If you are interested in being a part of either of these projects, please fill out the Join Us/Get Involved Form below to be added to the email listserv and monthly calls.
G2MC Family Health History (FHH) Flagship Project
Update on 2024 Project Plan and Other Group Initiatives
The G2MC Family Health History (FHH) Flagship Project group is moving forward with its 2024 FHH project plan. This generalizable list of 11 steps includes a series of collaborative activities, from early planning to sharing successes, in support of local, working FHH implementations. While efforts are advancing on Step 1 — a survey of clinical colleagues to assess current FHH needs and capabilities — the focus is now moving towards documenting the desired FHH data elements to be collected, identifying FHH datasets that are currently available, and gathering existing methods of collecting data. View all 11 steps of the 2024 FHH project plan. Continue reading to learn more about the initiatives of the FHH Flagship Project Group.
G2MC Rare Disorders Flagship Project
Moving Forward with Project Scale-Up
Leaders of G2MC’s Rare Genetic Disorders Flagship Project met in February to discuss a potential scale-up of the pilot project “Genomic Medicine Clinics for Rare Genetic Disorders,” a collaborative effort with the University of Maryland, which kicked off in 2021 with funding from the RTW Foundation. In 2023 the pilot project completed its goal of implementing exome sequencing for the diagnosis of rare uncharacterized and undiagnosed diseases in six clinical sites located in Chile, Mexico, Sri Lanka, Malaysia, South Africa, and Nepal. Read how this project has impacted one patient in South Africa.
The project now has the potential to expand to 20 clinical sites in LMICs that have expressed interest in providing exome sequencing to local individuals with rare/undiagnosed diseases and building these capacities in their countries. Continue reading to learn more about plans for the project’s expansion.
Other News
Dr. Bruce Korf is Recipient of ACMG 2024 David L. Romoin Lifetime Achievement Award in Medical Genetics
We are thrilled to share that Dr. Bruce Korf has been named the recipient of the 2024 ACMG Foundation for Genetic and Genomic Medicine’s David L. Rimoin Lifetime Achievement Award in Medical Genetics. Dr. Korf serves on the leadership team for G2MC and has taken on many leadership roles over the years helping G2MC to grow and thrive. Dr. Korf currently serves as the Associate Dean for Genomic Medicine and the Distinguished Professor of Genetics at the University of Alabama at Birmingham’s (UAB) Heersink School of Medicine. Continue reading to learn about Dr. Korf’s research and career that has led him to receive this deserving award.
Prof. Juergen Reichardt Appointed to Serve on HUGO Executive Board and Australian Research Council (ARC) Medical Research Advisory Group (MRAG)
Congratulations to Prof. Juergen Reichardt for his appointment to the Human Genome Organization (HUGO) Executive Board. HUGO is an international organization of scientists involved in various aspects of human genetics, and during its 36 years of existence has played an essential role in bringing Genomic Sciences to the world. Prof. Reichardt has also been appointed to the Australian Research Council (ARC) Medical Research Advisory Group (MRAG), a group that is responsible for providing technical advice to the ARC’s National Competitive Grants Program (NCGP) Eligibility Committee regarding medical eligibility for selected applications.
Prof. Reichardt serves on G2MC’s Steering Committee and has played an active role in G2MC’s activities and growth over the years. His leadership across multiple organizations plays a significant part in the collaborative efforts of G2MC.
Upcoming Events
Human Genome Meeting 2024
The Human Genome Meeting (HGM) will be held from 8-10 April 2024 in Rome. Late/on-site registration is still available. The theme of the HGM2024 “Genomics in Precision Health” reflects the focus on genomics education which will be heavily involved in the scientific contents of the conference. HGM2024 will be a platform to highlight recent progresses in these fascinating new science and technologies. In addition, HGM2024 will bring in educational workshops and sessions for students and early-career scientists, combined with opportunities to present their works. G2MC Steering Committee member Prof. Juergen Reichardt is co-chair of the local organizing committee and part of the scientific program committee for this meeting and is looking forward to welcoming many human genomics colleagues to this exciting event!
PRECISE-IHCC Conference: Cohorts to Clinic (C2C)
Save the dates! The International Health Cohorts Consortium (IHCC) is excited to hold its 6th international conference as a joint meeting with Precision Health Research, Singapore (PRECISE) on August 21-23, 2024 in Singapore. The theme of the conference is From Cohorts to Clinics: The New Landscape of Global Healthcare. This conference seeks to address challenges and opportunities in translating advances in precision medicine into tangible enhancements in patient care and reshape the landscape of modern healthcare. It also aims to catalyze and promote cross-population cohort research and design cross-cohort pilot projects to address various global challenges. Abstracts are being accepted through March 31.
Conference registration will be available soon. In the meantime, submit your information here and you will be notified when registration opens.
GGMC Educational Webinar Series
Join us each month for the Global Genomic Medicine Collaborative (GGMC) Educational Webinar Series. The series, established and previously hosted by the International Health Cohorts Consortium (IHCC), has been expanded to include both consortiums within the GGMC organization and brings together leaders, educators, researchers, and professionals with all levels of expertise to share health sciences initiatives taking place in their respective fields and countries. Each month’s webinar will feature new guest speakers offering novel insights into their fields.
Publications
Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
Baynam, G., Julkowska, D., Bowdin, S., Hermes, A., McMaster, C. R., Prichep, E., Richer, É., van der Westhuizen, F. H., Repetto, G. M., Malherbe, H., Reichardt, J. K. V., Arbour, L., Hudson, M., du Plessis, K., Haendel, M., Wilcox, P., Lynch, S. A., Rind, S., Easteal, S., Estivill, X., … Vorster, B. C. (2024). Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. Nature genetics, 56(2), 189–193. https://doi.org/10.1038/s41588-023-01642-1
ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean
Gonzaga-Jauregui C, Salazar C, MacDonald J, Reichardt JKV, Groft SC. ERCAL, a regional initiative for rare diseases in Latin America and the Caribbean. Rare Disease and Orphan Drugs Journal. 2024; 3(1): 6. http://dx.doi.org/10.20517/rdodj.2023.48
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
Poli, M.C., Rebolledo-Jaramillo, B., Lagos, C. et al. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile. Eur J Hum Genet (2024). https://doi.org/10.1038/s41431-023-01523-5
COMMENTARY:
Overcoming barriers to equitable genomic healthcare
Girisha K. M. (2024). Overcoming barriers to equitable genomic healthcare. European journal of human genetics : EJHG, 10.1038/s41431-024-01557-3. Advance online publication. https://doi.org/10.1038/s41431-024-01557-3
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