The Genomics Landscape
Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research
By Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute
February 7, 2017
With the transition to a new administration, we are obviously in an era of many changes. We await the confirmation and appointment of a new Secretary of the Department of Health and Services, but recently received news that there will not be an immediate change of the NIH Director. Specifically, Dr. Francis Collins has been 'held over' and will remain as NIH Director for the time being. In the meantime, NHGRI remains focused on 'changing the world' through genomics, and our collective efforts remain as exciting and busy as ever - as we once again highlight for you below.
This month's The Genomics Landscape features stories about:
- Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research
- New Policy for the Protection of Human Subjects in Research
- NHGRI-NICHD Program Publishes on Newborn Sequencing
- NHGRI Moves to Next Phase of ENCODE
- NIH to Raise Awareness about Rare Diseases
- NIH-ACMG Fellowship in Genomic Medicine Program Management
All the best,
Eric
Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research
The completion of the Human Genome Project and subsequent genomics research over the last ~14 years have reinforced the notion that humans across the globe are more alike than they are different. But we also know that many factors - ancestry, environment, and social factors - have a profound effect on human health. One challenge facing genomics and biomedical research is how best to describe the diversity of the human population as part of research studies.
On October 24 and 25, 2016, NHGRI and the National Institute on Minority Health and Health Disparities (NIMHD) convened a workshop to discuss the use of race and ethnicity data in genomics, biomedical, and clinical research, and the application of such information to the study of minority health and health disparities. A group of genomic, clinical, epidemiological, and social science researchers (as well as NIH staff, government stakeholders, and other experts) came together to discuss how human data about diversity, including race and ethnicity, are studied and reported.
NIMHD Director Dr. Eliseo Pérez-Stable gives opening remarks about the use of race and ethnicity data in minority health and health disparities research.
The workshop's objective was to explore how genomics and biomedical research can describe research participants' diverse backgrounds and experiences in ways that are both scientifically and socially meaningful. Developing ways to advance the understanding of the concepts of self-identified race and ethnicity (SIRE) and ancestry informative markers (AIMs) in biomedical research was a featured component of the workshop's agenda. Recommendations for the appropriate use of race, ethnicity, and other population descriptors in scientific research were sought from the participants.
Workshop attendees discussed how social and political population labels, such as categories for race and ethnicity, are used in the design of genomics and biomedical research projects. However, such labels influence how scientists and the public conceptualize, discuss, and react to human differences. Improper use of population descriptors in biomedical research can spread misinformation and cause stigmatization.
Several critical themes and recommendations emerged from the workshop: (1) Without abandoning the current Office of Management and Budget categories for U.S.-based research, researchers should expand the depth of information collected regarding race and ethnicity in a comprehensive and standardized way; (2) An expansion of the collected data categories beyond race and ethnicity that will help explain population differences should be encouraged (e.g., socioeconomic status, region, zip code, and immigration history); (3) The instructions to researchers about collecting and reporting race and ethnicity data should be examined and, if necessary, revised to ensure they do not limit the ways that population data can be reported; (4) A global approach for describing diverse populations in international research should be developed, as should the means for making such data comparable; (5) Longitudinal frameworks for assessing racial and ethnic identity should be investigated; (6) Standardized approaches for utilizing electronic health care record data in genomic and biomedical research should be established; and (7) Research about the use of race and ethnicity data should be incorporated into existing NIH Program Announcements.
NHGRI Director Dr. Eric Green (left) and NIMHD Director Dr. Eliseo Pérez-Stable (right) at the Workshop on the Use of Race and Ethnicity in Genomics and Biomedical Research.
Conversations and research about these complicated questions are critical for bringing the benefits of genomics to everyone. Next steps from the workshop include publishing a meeting report, investigating the feasibility of funding research on the complexity of race and ethnicity in health research, and formulating official recommendations on the collection and reporting of race and ethnicity data.
For more information about the workshop, visit genome.gov/27567679/Workshop-on-the-Use-of-Race-and-Ethnicity-in-Genomics-and-Biomedical-Research.
More from The Genomics Landscape
- New Policy for the Protection of Human Subjects in Research
The Common Rule, also known as the Federal Policy for the Protection of Human Subjects, is a policy that safeguards participants involved in scientific research. The Common Rule recently had its first major update since it was enacted in 1991. The updated version strengthens protections for individuals who volunteer to participate in research while, at the same time, streamlining administrative procedures in order to reduce unnecessary administrative burdens. The final rule was published on January 19, 2017, and researchers and institutions must be compliant on January 19, 2018. To learn more about the revised Common Rule, see federalregister.gov/documents/ 2017/01/19/2017-01058/federal-policy-for-the-protection-of-human-subjects. - NHGRI-NICHD Program Publishes on Newborn Sequencing
The Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program, co-funded by NHGRI and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), aims to explore the implications, challenges, and opportunities associated with the use of genomic sequence information in newborns. The program recently published a paper in Pediatrics that examines these issues and describes research about parental decision-making, clinical utility, and the psychosocial impact of generating genomic information about newborns. - NHGRI Moves to Next Phase of ENCODE
With new awards totaling ~$31.5 million in Fiscal Year 2017 (pending the availability of funds) to support investigators in the Encyclopedia of DNA Elements (ENCODE) Consortium, NHGRI is moving into its next phase of cataloging the functional elements in the human and select model organisms' genomes. The ENCODE Project, which was launched in 2003, is a key resource that NHGRI provides to the scientific community for understanding the genome at its most fundamental level. ENCODE is expanding its work in multiple areas, including new awards aimed at characterizing the function of candidate gene-regulatory elements. For more information, see genome.gov/27567592/2017-Release-NIH-to-expand-critical-catalog-for-genomics-research/. - NIH to Raise Awareness about Rare Diseases
Rare Disease Day is a worldwide campaign to raise awareness about rare diseases and their impact on patients' lives. NIH is hosting an event, free and open to the public, about how NIH-funded research and collaborations are working towards identifying causes and finding cures. The event, sponsored by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center, will be held on NIH's main campus in Bethesda, Maryland on February 27. It will include presentations, tours, and art shows. To register and learn more, visit ncats.nih.gov/rdd or follow the event on social media using #RDDNIH.
- NIH-ACMG Fellowship in Genomic Medicine Program Management
An NIH coalition led by NHGRI has partnered with the American College of Medical Genetics and Genomics (ACMG) to launch a new fellowship in Genomic Medicine Program Management. The goal of this fellowship is to increase the pool of physicians trained in managing research and implementation programs in the use of genomic information as part of an individual patient's clinical care. The Genomic Medicine Program Management Fellowship is intended to last 24 months, and will be located primarily in the Bethesda, Maryland area. Fellowship rotations will include participating in ongoing extramural research program activities as well as a variety of additional options, including program management at the ACMG; patient-care experience(s); and contributions to programs in the NIH Intramural Research Program. For more information, visit genome.gov/27567626/NIHACMG-Fellowship-in-Genomic-Medicine-Program-Management/.
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