Hi! We’re Vence Bonham, Eric Green and Lucia Hindorff and we recently published a perspective on how the National Human Genome Research Institute, part of NIH, is prioritizing diversity in human genomics research. Ask us anything!

Abstract

Variations at the genomic level can have huge implications for how we understand our similarities and differences in disease risk, and even for how we respond to certain prescriptions or medical interventions. Part of the goal of The Human Genome Project was the complete mapping and understanding of all the genes in the human genome to begin to uncover these parts of the genome that can vary from person to person. The protocol was to collect blood samples of several volunteers, extract the DNA, sequence it in small chunks, and assemble the pieces back together into one “reference” genome. Except, even before the project launched in 1990, scientists knew that there was no single human genome – and even the small number of individuals whose DNA was used as the first reference genome would not capture all of the variation that exists in the genomes of humans. In 2016, NIH launched the All of Us Research Program to improve the health of all individuals and populations through precision medicine. Precision medicine is a revolutionary approach to healthcare that takes into account individual differences in lifestyle, environment – and especially the differences in our genomes. But last year, a paper published in Nature by Popejoy and Fullerton, suggested that some populations are being left behind on the road to precision medicine. Their findings showed that human genomics research was heavily skewed towards populations of European ancestry and exposed a lack of diverse and underrepresented populations in genomic studies. This disparity must be addressed as the foundation for genomic medicine becomes established. As leaders at NHGRI, one of the 27 institutes and centers at NIH, we are committed to understanding the genomic variation that contributes to health and disease in all populations. We recently published a perspective in Nature Reviews Genetics that lays out the challenges to achieving diversity in genomic research, the ways in which NHGRI has shown its commitment to this significant goal, and the need to engage the scientific community as we move forward. We encourage you to read the paper linked below, and ask us any questions that you have about recruiting diverse participants and communities, scientific impact of diversity in research, funding support for this type of work, and our plan for what needs to be done in both the short- and long-term. Ask us anything! Your hosts today are: Vence Bonham, J.D., Senior Advisor to the NHGRI Director on Genomics and Health Disparities, and Associate Investigator in the Social and Behavioral Research Branch at NHGRI Eric Green, M.D., Ph.D., Director of NHGRI Lucia Hindorff, Ph.D., M.P.H., Program Director in the Division of Genomic Medicine at NHGRI Also joining us today are Larry Brody, Ph.D., Division Director of the Division of Genomics and Society, Teri Manolio, M.D., Ph.D., Division Director of the Division of Genomic Medicine and Maggie Ginoza, B.S., Program Analyst in the Divisions of Genomic Medicine and Genomics and Society. Relevant paper links: Popejoy and Fullerton, 2016. Genomics is failing on diversity. https://www.nature.com/news/genomics-is-failing-on-diversity-1.20759 Hindorff et al., 2017. Prioritizing diversity in human genomics research. https://www.nature.com/articles/nrg.2017.89 UPDATE: We're wrapping up here, but thanks for all of the great questions! We had a blast!