G2MC Newsletter

June 2023

In this edition

  • Featured: GGMC 2023 Secretariat Advance
  • G2MC 7th International Conference Updates
  • Featured Early Career Investigator: Mev Domínguez Valentin, Ph.D., Norway
  • Organizational Updates and Announcements
  • Flagship Project Updates
  • Other Genomic Medicine News and Events
  • Recent Publications

Know of potential funding sources or opportunities? 

Featured Story

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Global Genomic Medicine Collaborative (GGMC) 2023 Secretariat Advance

Reflecting on the Past and Looking Towards the Future

In May, the Global Genomic Medicine Collaborative (GGMC) Secretariat Team came together in Durham, NC for a day-long retreat to discuss current initiatives and future goals for GGMC and its two consortia – the Global Genomic Medicine Consortium (G2MC) and the International HundredK+ Cohorts Consortium (IHCC).

As a result of the continued growth and success of GGMC’s consortia over the years, the Secretariat team, which provides organizational and administrative support, has also grown. Additionally, the structure of the organization, its leadership teams, and committees have undergone significant changes to ensure the organization is leveraging its people and resources, and maximizing its global reach to the greatest extent. 

Continue reading to learn more about the GGMC Secretariat team and how the 2023 Secretariat Advance is helping to continue to “advance” the organization. 

Featured Young Investigator

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 G2MC ECI Subcommittee, we hope to provide opportunities for our members to mentor and cultivate young talent in genomic medicine implementation all over the world.

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Mev Domínguez Valentin, Ph.D., Norway

We are excited to sit down with our featured Early Career Investigator (ECI), Mev Dominguez Valentin, Ph.D., who currently serves as a project group leader at the Institute for Cancer Research at Oslo University Hospital in Norway, and is the Principal Investigator of the Prospective Lynch Syndrome Database (PLSD), an international, multicentre database recording prospective observational data on path_MMR carriers under surveillance by colonoscopy. Continue reading to learn more about Dr. Valentin and her achievements and career pursuits. 

G2MC 7th International Conference Updates

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Register Now!

Secure your registration now for G2MC’s 7th International Conference to be held October 2-4, 2023 in Geneva, Switzerland. Our partner hotels are offering discounted rates for conference attendees until the hotels are fully booked. For those unable to attend in person, registration for online attendance is also available. Visit the conference registration page to learn more. 

Discover Our Speakers

Check out our Conference Speakers webpage to view our amazing lineup of speakers. We will continue to update the webpage as more speakers are confirmed.

Agenda

The preliminary program is available to view and is updated regularly as conference planning continues. 

Sponsorship Opportunities

We are still in need of sponsors for this year’s conference. Funding will help cover conference costs, including technology, Early Career Investigator (ECI) and speaker travel, and venue organizational costs that will bring leaders in the developed and developing world together to formulate joint initiatives that improve health for individuals and populations worldwide.

If you or your organization may be interested in being a conference sponsor, please contact us and we will be happy to provide additional details about sponsorship opportunities.

Organizational Updates and Announcements

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Restructuring and Renaming of Functional Groups

In March 2023, we announced the restructuring of G2MC’s functional groups as a result of the G2MC Strategic Plan. However, as an outcome of the May 2023 Secretariat Advance, as well as feedback from our members, it was determined that further changes were needed. 

Specifically, the term “subcommittee” was changed to “working group” and the “Clearinghouse Subcommittee” was renamed the “Resource Center Working Group.” The intention is that the renaming of these groups provides increased clarity of their functions and consistency in naming across GGMC’s consortia. 

Additionally, it was determined that the Diversity, Equity and Inclusion (DEI) Subcommittee is more appropriately housed at the GGMC level, as it is a function that spans the entire organization, not just G2MC, so it is now integrated into the GGMC DEI Core Committee. Similarly, the Early Career Investigator (ECI) Affinity Group is now a part of the Workforce & Training Core Committee at the GGMC level. You can view these changes on the G2MC website.

Get Involved!

A huge thanks to those who submitted their interest in joining a G2MC functional group using our Get Involved Form. We have stored your information in our new members database and the recent changes to the naming and restructuring will not affect your submissions. 

G2MC members who join a functional group will have great opportunities to get involved in the organization and contribute to our growth and success. For those who have not done so, let us know how you’d like to get involved by filling out the Get Involved Form today! 

Resource Center Working Group Co-Lead Needed

We are still looking for one co-lead for the Resource Center Working Group (WG). The roles of the two co-leads of this group will include:

  •  Kicking off this new WG and creating the charter.
  • Leading the WG Workshop/breakout session during the G2MC Conference in October to define/confirm the short-term and long-term objectives with the members.
  • Determining the best process to identify, screen and share genomic medicine implementation resources into a central place called the “Resource Center” (previously announced as “Clearinghouse”).
  • Initiating the discussion on how this database will be created on our website.
  • Using the current project of the creation of a Family Health History use case database as a pilot to initiate the Resource Center.

Additional details about this working group can be found on page 17 of the G2MC Strategic Plan.

If you are interested in this role, please fill out the G2MC Leadership Nomination Form.

Teji Rakhra-Burris and Prof. Vajira H. W. Dissanayake to Represent GGMC on the HUGO Forum

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We are excited to share that the Global Genomic Medicine Collaborative (GGMC) will be represented on the Human Genome Organization (HUGO) Forum, where members of the HUGO executive board, committee chairs, and liaisons from other organizations can meet, exchange information and discuss new collaborative initiatives in the genomics arena.

Teji Rakhra-Burris and Dr. Bruce Korf to Represent G2MC on National Academies Roundtable

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We are pleased to share that Teji Rakhra-Burris, GGMC President & CEO, and Dr. Bruce Korf, Interim Co-Chair of G2MC, will represent the Global Genomic Medicine Consortium (G2MC) on the National Academies of Science, Engineering, and Medicine (NASEM) Roundtable on Genomics and Precision Health. This role was previously represented by Dr. Geoffrey Ginsburg, founder and former President of G2MC, who served on the NASEM Roundtable on Genomics and Precision Health for more than 15 years.

REMINDER: Funding and Grants Webpage

The GGMC Development Committee is requesting for G2MC members 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, with the goal of allowing other members the opportunity to consider collaborative proposals to answer them. We have recently created a Funding and Grants webpage on our website to list these opportunities and funding sources. We encourage members to use the submission form on the webpage to submit potential funding opportunities and sources to be posted and shared.

Flagship Project Updates

Learn more about G2MC Working Groups and Flagship Projects and how you can get involved. 

G2MC Family Health History (FHH) Flagship Project

FHH Flagship Project Members To Collaborate on Study To Assess Genetic Services at Dhulikhel Hospital, Nepal

We are pleased to share that Pratiksha Gyawali, MD, Kathmandu University School of Medical Sciences, and Shane Quinonez, MD, University of Michigan, both members of the Family Health History (FHH) Flagship Project, are collaborating on a research study entitled Current Practice and Perspective for enhancing genetic services: An exploratory mixed-method study at Dhulikhel Hospital. Continue reading for an overview of the study.

Family Health History Quick App Review Published by Members of the FHH Flagship Project

Two members of the Family Health History (FHH) Flagship Project co-authored a paper that presents a list of 25 questions a doctor may use to review a family health history app for clinical quality. Grant Wood is the lead technical author, and Dr. Isa Houwink is the lead clinical author. The paper was published in the journal Genes. The FHH Quick App Review is found by downloading the article PDF, or by expanding Table 1 on the web article.

Josip Matovinovic, MD Endowed Clinical Medicine Fellowship

We are pleased to share that Family Health History (FHH) Flagship Project member, Pratiksha Gyawali, MD, was recently awarded a Josip Matovinovic, MD Endowed Clinical Medicine Fellowship. The goal of the fellowship is to gain medical knowledge and technical expertise to establish clinical testing in Nepal. This fellowship will enable Dr. Gyawali to spend twelve months on the campus of the University of Michigan in order to develop the laboratory molecular genetic techniques required to advance her aims of introducing clinical genetic testing in her home country, Nepal.

Medical Genetics Needs Assessment Survey

In a previous update, we shared that Family Health History (FHH) Flagship Project member, Pratiksha Gyawali, MD, created and began circulating a Medical Genetics Needs Assessment survey amongst her medical colleagues in Nepal to gauge their interests, needs, and current capabilities around genetic services and family health history. We are pleased to share that the survey has received Ethical Review Board (ERB) approval from both Kathmandu University School of Medical Sciences (KUSMS) and Nepal Health Research Council (NHRC), and is being distributed widely among physicians in Nepal. Over 100 responses to the survey have already been received. 

Genomic Medicine Clinics for Rare Genetic Disorders

Initial Goal Complete: Potential for Expansion and Collaboration

The Genomic Medicine Clinics for Rare Genetic Disorders pilot project completed its initial 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. Results from the project were presented during the International Conference on Birth Defects and Disabilities in the Developing World (ICBD), held in March 2023 in Santiago, Chile. Results are also being submitted for publication in various journals, including a special issue of Frontiers in Genetics.

The project now has the potential for expansion, with 20 sites, in addition to the initial six sites, interested in providing exome sequencing to local individuals with rare/undiagnosed diseases. Of the additional 20 sites, 16 have confirmed their participation in the project. Additionally, opportunities for collaboration with other global organizations have emerged.

Other News

World Health Organization (WHO) Call for Experts -
Technical Advisory Group on Genomics

The World Health Organization (WHO) is seeking experts to serve as members of the Technical Advisory Group on Genomics. The advisory group will support and provide technical guidance on activities implemented by the WHO Secretariat to accelerate access to genomics technologies for global health, with a particular focus on human genomics. The impetus for this group comes from the 2022 WHO Science Council Report “Accelerating access to genomics for global health: promotion, implementation, collaboration, and ethical, legal and social issues.” 

WHO welcomes expressions of interest from professionals with expertise in a diverse set of fields related to genomics (and in particular human genomics). The deadline for expression of interest is 16 July 2023.

Upcoming Events

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 Hundred K+ 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.

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Clinical Genomic Biomarkers Summit

The Clinical Genomic Biomarkers Summit will take place September 14, 2023 in Basel, Switzerland. Recent breakthroughs in genomics have paved the way for the development of biomarkers to predict individual disease risk, enable early detection, stratify patients and support drug discovery for challenging human disorders. The summit will showcase the impacts of genomics on human health, in particular the biomarker development and drug discovery, within the context of precision medicine. The summit also aims to foster collaboration between academic and industry partners and data exchange as well as knowledge sharing, and will cover current challenges and limitations of applying genomics in the clinic and its future solutions.

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Global Alliance for Genomics & Health (GA4GH) 11th Plenary

The GA4GH 11th Plenary will be held September 19 – 22, 2023 in San Francisco, USA. The meeting will bring together organizations and stakeholders from the genomics and health community for keynotes, talks, and workshops focused on genomic and clinical data sharing issues that pervade diverse industries, disciplines, and communities. Attendees will have the opportunity to learn about GA4GH’s technical standards and policy frameworks, which aim to break down the many barriers to data sharing and advance genomic research.

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Disease Prevention, Detection and Treatment (DPDT) Conference

The Disease Prevention, Detection and Treatment Conference: From Molecules and Genes to Precision Medicine will take place October 11-13, 2023 in Dead Sea, Israel. The meeting will be led by top professionals whose expertise is in discovery and use of molecular data to improve health. The conference is geared toward translational biologists, geneticists, genetic counselors, bioinformaticians and statisticians, and clinicians of all medical fields with an emphasis on cancer sciences. Professionals in these fields are encouraged to register for this unique event.

Publications

FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care?

Wood, G. M., van Boom, S., Recourt, K., & Houwink, E. J. F. (2022). FHH Quick App Review: How Can a Quality Review Process Assist Primary Care Providers in Choosing a Family Health History App for Patient Care? Genes, 13(8), 1407. https://doi.org/10.3390/genes13081407

Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian questionnaire on family history

Houwink, E. J. F., Hortensius, O. R., van Boven, K., Sollie, A., & Numans, M. E. (2019). Genetics in primary care: validating a tool to pre-symptomatically assess common disease risk using an Australian questionnaire on family history. Clinical and translational medicine8(1), 17. https://doi.org/10.1186/s40169-019-0233-x

Join Our Community

Interested in becoming a member of G2MC? Our community is comprised of health professionals, scientists, and policy makers in over 35 countries. We collaborate to demonstrate the value and the effective use of genomics in medicine. Join us to share and learn best practices.