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International Summit on Human Genetics and Genomics

November 1, 2016

In September, NHGRI and NIH debuted a new outreach initiative designed to provide an opportunity to developing nations to build and expand their knowledgebase, infrastructure, and technologies for conducting genetics and genomics research. The first annual International Summit in Human Genetics and Genomics was held on the NIH campus from September 1-30, bringing together international scientists to teach them how to understand the prevalence and basis of genetic diseases in their nations and to facilitate their efforts in addressing public health challenges. 

Eight NIH Institutes sponsored participants and helped with the Summit in partnership with the Foundation for the NIH. Coordinated by NHGRI staff under the leadership of Dr. Max Muenke, the Summit's goals included helping attendees to ultimately improve their economies and build healthier nations worldwide by communicating advances in genetics and genomics to the global community; identifying and filling the knowledge gap in genetics and genomics faced by developing nations; and promoting genomic research and medicine through international cooperation and collaboration.

First International Summit in Human Genetics and Genomics: Representatives from various countries.


Many countries do not have researchers and healthcare professionals with formal training in genetics or educational programs to create such professionals. Training such scientists and physicians allows for the implementation of genomic medicine and aids in the prevention, diagnosis, and treatment of genetic diseases and congenital birth defects, thereby lessening the burden throughout the world.

The Summit curriculum was aimed at a graduate school level for healthcare professionals, including researchers, physicians, dentists, nurses, and counselors from developing nations. A total of 19 participants came from 13 countries across the globe, including Cuba, Egypt, Ethiopia, India, Indonesia, Malaysia, Morocco, Nigeria, Rwanda, Peru, Sri Lanka, Tanzania, and Turkey. Participants experienced over 50 lectures, field trips to the NIH Intramural Sequencing Center and various outside sites, a bioinformatics workshop, and a patient panel. The Summit encouraged collaborations among participants and NIH investigators, as well as other investigators at nearby institutions. Embassy representatives from the 13 participating countries were invited to attend the concluding talks of the Summit.

Desired outcomes of the Summit included increasing awareness of the burden that genetic disorders can have on the lives of individuals, their families, and their nations; better communicating that many of these conditions are preventable, diagnosable, treatable, or manageable; and highlighting how the collective effort by governments, educational institutions, clinicians, researchers, support groups, societies, families, and others can reduce the burden of genetic diseases and help improve the quality of life and economies of all countries.

International Summit Participants
Participants of the first International Summit in Human Genetics and Genomics.


Participants were introduced to technologies such as NextGen DNA sequencing, exome sequencing, and taught how those technologies have a role in research, prevention, diagnosis, and treatment. They also learned about data collection, analysis, interpretation, and submission. They were educated in the role of genetic/genomic counseling and support groups. Information exchange at the Summit was not a one-way street. In addition to learning from NIH staff, participants learned from each other about their experiences in using genetics and genomics technologies. Additional topics included the ethical, legal, and social Implications of generating and using genomic information, precision medicine, and newborn screening.

The current plan is to hold such an annual Summit through 2020, bringing increased knowledge about genetics and genomics to healthcare professionals around the world. For more information, visit


Posted: December 6, 2016

See Also:

November Genomics LandscapePDF file