Genomics for all in the 21st century?
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ORIGINAL ARTICLE
Genomics for all in the 21st century? Martina C. Cornel 1 & Vence L. Bonham 2
Received: 17 August 2017 / Accepted: 3 September 2017 # The Author(s) 2017. This article is an open access publication
Abstract As the field of genomics enters the second decade after the completion of the International Human Genome Project, human genomics research is still far from reflective of the ancestral diversity found in global populations. This special issue of the Journal of Community Genetics brings together a global perspective on the need for researchers and health care professionals to support achievable milestones that will enhance global ancestral diversity in genomic research for the 21st century, and integrate the resulting knowledge into health care that benefits everyone. As the publications in this special issue illustrate, this will require focused community engagement, including often overlooked isolated populations, as well as meaningful integration of genomics and health services across the global landscape. With the advancement of sequencing technology and reduction in the cost, the time has come to address critical barriers.
The findings and conclusions in this editorial are those of the authors and should not be construed to represent the views of the National Human Genome Research Institute, National Institutes of Health or the US Department of Health and Human Services. This article is part of the Topical Collection on Inclusion of Diverse Populations In Genomics Research and Health Services: A Scientific and Health Equity Imperative. * Martina C. Cornel [email protected]
1
Department of Clinical Genetics and Amsterdam Public Health Research Institute, Section Community Genetics, VU University Medical Center, BS7, A527, Mail A509 APH, PO Box 7057, 1007 MB Amsterdam, The Netherlands
2
Division of Intramural Research, Social and Behavioral Research Branch, National Institutes of Health, National Human Genome Research Institute, Bethesda, MD, USA
Keywords Genomics . Health equity . Diversity . Health care disparities . Community engagement
As genomics research enters the second decade after the completion of the International Human Genome Project, human genomics research is still not fully reflective of the ancestral diversity found in global populations (Bustamante et al. 2011; Popejoy and Fullerton 2016). As we advance our understanding of the interaction between gene expression and disease, and given that genomic information has the potential to play a key role in the future of health care, the current lack of inclusion of diverse ancestral populations in genomics research creates a risk of exacerbating existing health care disparities (Manrai et al. 2016; Cornel 2017) and limiting our scientific knowledge of worldwide genetic variation. This is both a scientific and health equity challenge to the global scientific community. What international efforts are needed to increase underrepresented populations within genomics research? How do we ensure that all populations benefit from the
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