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