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!