December 12, 2019
With the United States and many other countries in the midst of what is widely referred to as the “holiday season,” people across the globe are making arrangements to spend time with their family members. G2MC member and Genomic Medicine Flagship Project Working Group Co-Chair, Grant Wood, takes a moment to provide an update and reflect on how the flagship project on Family Health History ties into the holiday season and family traditions.
In the United States this year, Thursday November 28 was not only what is known as Thanksgiving Day, but also National Family History Day. The event that Americans commonly call the "First Thanksgiving" was celebrated by religious pilgrims after their first harvest in what was the ‘New World” to them, in October 1621, and peacefully shared with a helpful tribe of indigenous people.
Today, the tradition in the US is to gather with family members, traveling significant distances if needed, for a family reunion where the fall harvest meal is the main attraction. To illustrate the deeply felt sentiment about the family aspect of this day, a Thanksgiving poem by Lydia Maria Child was originally published in 1844. The first line opens with “Over the river, and through the woods, To Grandfather's house we go” - and continues with “When Grandmother sees us come, She will say, O, dear, the children are here, bring a pie for everyone."
With several generations together, and the re-telling of stories of generations passed away, what a perfect time to engage in a family discussion of health. The Centers for Disease Control and Prevention (CDC) in the US promotes a program that encourages families, along with eating the traditional turkey and pumpkin pie, to talk about their family health history. The CDC's Family Health History webpage provides excellent guidance and advice to families on how to understand and approach the subject, with online tools to capture the stories and family health history information.
Starting early in the next year, the G2MC Genomic Medicine Flagship Project Working Group will launch a Family Health History subgroup. We will build on the previous work of past work groups’ efforts and conferences on this subject. Learning about the needs in each individual country, we hope to promote 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.
The importance of families and gratitude are not restricted to one holiday or one country, but are basic foundations of all humanity – which is why I’m thankful to be working with the inspirational G2MC family.
Written by Grant Wood, Co-Chair, Genomic Medicine Flagship Project Working Group
December 12, 2019
The 5th Global Genomic Medicine Collaborative (G2MC) Conference is less than six months away, and the planning committee is hard at work organizing the event which will be held in Santiago, Chile May 6-8, 2020 with a “G2MC Bootcamp” planned for May 9. Leaders in genomic medicine across the globe will be attending this highly interactive meeting to define collaborative projects and strategies that will serve the global community to implement genomic advances to improve clinical care. This is the first G2MC conference to be organized in South America and will focus on the implementation of Genomic Medicine in low resource settings.
We spoke with local host and planning committee co-chair, Gabriela Repetto, from the Center for Genetics and Genomics and Professor at Universidad del Desarrollo to learn more about the conference and the profound impacts it is expected to have on the local community, attendees, and the future of genomic medicine.
Gabriela, why was Chile chosen for this year's conference, and why is the location important in regards to the mission of G2MC?
G2MC´s mission is to foster the implementation of Genomic Medicine (GM) globally, and recognizing how heterogeneous the situation is around the world, has placed an explicit focus in regions where GM has not yet been explicitly incorporated into health care. This is the situation of low and middle income countries (LMICs) and was the theme for the very successful meeting in Cape Town, South Africa. At the end of the Cape Town meeting, several delegates very enthusiastically volunteered to host the next meeting in their countries, and with the support of the G2MC co-chairs, Catalina Lopez-Correa, George Patrinos and Geoff Ginsburg, the decision was made to bring G2MC to Latin America. The meeting has been organized around 4 themes: Genomic Landscape in Latin America, Rare Disorders, Common Disorders, and Solutions to Roadblocks that address issues regarding implementation around the world.
What about the unrest in Santiago? What impacts, if any, do you perceive this could have on the conference?
Chile and other Latin American countries are currently facing substantial social and political unrest of complex origin, but mostly in response to inequalities and corruption. We are monitoring the local situation closely to make sure that the meeting takes place in an environment that is safe for participants, and in which speakers and audiences are not discouraged from attending. We are hopeful that the political situation will be resolved by next May, but are also examining alternative venue locations in South America and will keep in-touch with meeting speakers and registrants should it be necessary to change locations.
That being said, we also consider the impact the meeting itself will have on society and the local community for example, the conversations, analysis, GM projects and collaborations fostered by G2MC, and engagement with local stakeholders during the meeting, can greatly contribute to improvements in health care delivery, which is among the top concerns of Chileans.
Could you tell me about the Young Investigators Forum? Is this a new event, and why is it an important part of the conference?
This will be the second version of the Young Investigators Forum (YIF) - the first was in the 2018 meeting in Cape Town. This activity will kick off the G2MC conference, and has the purpose of fostering the development, growth and mentoring of the next generation of researchers, clinicians, and policy makers in genomic medicine implementation. Young Investigators are invited to submit abstracts describing their work in the field, and will be selected for platform or poster presentations. We hope our G2MC members will encourage the participation of Young Investigators from their institutions. Abstracts are currently being accepted and can be submitted here.
Are there any specific events that will take place at the conference that should be highlighted? Specifically, could you tell me about the boot camp that will take place that Saturday?
The week of May 4 will be a very busy and attractive period for activities in Genomic Medicine in Chile. The International 100K Cohorts Consortium (IHCC) will hold their 3rd International Cohorts Summit in Santiago on May 4-5, with a focus on large population initiatives. Following, the G2MC meeting will take place on May 6-8 focusing on GM implementation, and ending on May 9 with a Genomic Medicine bootcamp for clinicians. The bootcamp, an educational activity targeting local health care providers, will be led by Jeanette McCarthy and Geoff Ginsburg, and geared towards clinical use of genomic tools for specialists in different areas including cardiology, psychiatry, oncology, and pediatrics.
What impact do you perceive the conference will have on the local community and local educators in Chile, and how can they use it to build on genomic medicine research and implementation?
We have great expectations about the results of this meeting. This will be an opportunity for local clinicians, researchers, patients, and policy makers to share their work and to interact with leaders from other countries. The program will show a wide variety of strategies being implemented around the world, so that participants will be able to learn about and gain inspiration from a breadth of initiatives and best practices. We hope that many collaborations will stem from the meeting, to gain new G2MC members from Latin America, and to contribute to a growing community of young investigators in the field. We also expect that the initiatives from the G2MC working groups will incorporate participants from the region.
Please find more information about the meeting and how to register here or through the www.G2MC.org/events webpage. Logistical and hotel accommodation information will be accessible from the registration confirmation.
The Lancet has recently published five, timely reviews of the clinical insights and avenues of exploration within the growing area of genomic medicine. This series presents an overview of efforts to implement genomic medicine, including contemporary tools and resources; the role of pharmacogenomics in drug safety and efficacy; the application of genomics to identifying rare and undiagnosed diseases; enhancing risk assessment through family health history records; and improving the collection of outcomes and evidence to better incorporate genomic techniques in clinical care. G2MC is pleased that our members are included in the authorship list - notably Teri Manolio, Marc Williams, Geoff Ginsburg, Howard McLeod, Mary Relling, Laura Lyman Rodriguez, Lori Orlando, and Ryanne Wu.
Genomic Medicine 1: Opportunities, resources and techniques for implementing genomics in clinical care describes the major types and measurement tools of genomic variation that are currently of clinical importance, reviews approaches to interpreting genomic sequence variants, identifies publicly available tools and resources for genomic test interpretation, and discusses several key barriers in using genomic information in routine clinical practice.
Genomic Medicine 2: Pharmacogenomics reviews general mechanisms underlying variability in drug action, the role of genetic variation in mediating beneficial and adverse effects through variable drug concentrations (pharmacokinetics) and drug actions (pharmacodynamics), available data from clinical trials, and ongoing efforts to implement pharmacogenetics in clinical practice.
Genomic Medicine 3: Genomic medicine for undiagnosed diseases focuses on the role of clinical genomic sequencing (exome and genome) in aiding patients with conditions that are undiagnosed even after extensive clinical evaluation and testing. In particular, it explores the impact of combining genomic and phenotypic data and integrating multiple data types to improve diagnoses for patients with undiagnosed diseases, and discusses how these genomic sequencing diagnoses could change clinical management.
Genomic Medicine 4: Family health history: Underused for actionable risk assessment discusses the importance of family health history as a tool for risk assessment for common chronic diseases.
Genomic Medicine 5: Building evidence and measuring clinical outcomes for genomic medicine reviews clinical outcome studies in genomic medicine and discusses the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.
The Global Genomic Medicine Collaborative (G2MC) is committed to preparing for the future of genomic medicine implementation by engaging with young investigators around the world. The organization has been taking steps to ensure our members are mentoring and cultivating young talent to help bring new genomic medicine technologies forward all over the world.
“Our young investigators are producing high caliber work,” said Teri Manolio. “Their energy, drive and innovation will help us implement genomic medicine in their communities and across the globe.”
At the G2MC Cape Town meeting in November 2018, the organization invited young investigators from all over the world to attend and showcase their original research. Prior to the meeting, the planning committee had released a request for abstracts and circulated it to the G2MC membership to distribute to their young investigators and colleagues. Victoria Nembaware (University of Cape Town) was instrumental to this process as she used her network within the African Genomic Medicine Training Initiative and the Human Heredity and Health in Africa (H3Africa) consortium to help spread the word.
About 60 abstracts were received, and we were pleased to include almost all young investigators to participate in the meeting through oral presentations, flash talks and/or poster presentations. This opportunity allowed young investigators, including students, postdocs and young faculty, to showcase their talent and capabilities to global leaders in genomic medicine.
African-specific NPHS2 V260E mutation in SR-FSGS cases
Sydney Brenner Institute for Molecular Bioscience and Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
Exploring the Molecular Basis of Hereditary Spinocerebellar Degeneration in a Large Sudanese Family
Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan
Targeted Next-Generation Sequencing Identifies Novel Variant
Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa
Distinct Profiles of warfarin Pharmacogenes in Africans
Pharmacogenomics and Drug Metabolism Research Group, Division of Human Genetics, Department of Pathology & Institute of Infectious Disease and Molecular Medicine (IDM)
Genome-wide discovery of long noncoding RNAs in HIV-1 non-progressors
Cell Biology Lab, Centre for HIV and STI, National Institute for Communicable Diseases, Johannesburg, South Africa
In the time since the Cape Town meeting, G2MC has continued to find new ways to engage young investigators. Currently, chairs of the working groups are finding people to help mentor these young investigators and provide hands-on experiences in specific activities within their groups.
Plans are also already underway to include more oral presentations, flash talks, and poster presentations from young investigators at another Young Investigators Forum during the 5th International G2MC meeting in Santiago, Chile in May 2020.
At the fourth Global Genomic Medicine Collaborative (G2MC)
Meeting in Cape Town, South Africa in November 2018, 125 leading scientists,
physicians and healthcare professionals from 26 countries came together to
further the mission of accelerating genomic medicine implementation around the
As a result, these leaders developed the Cape Town Declaration on Implementing
Genomic Medicine Towards Universal Health Coverage by 2030. Collectively,
they will work to find ways to help governments, intergovernmental agencies,
international development partners and the World Health Organization to come
together to understand the value of genomic medicine and help implement it