For the past three decades, NHGRI has been focused on understanding how genomic variation contributes to health and disease in all populations. While the field of genomics has made progress in including diverse and underrepresented populations in genomics-based studies, a recent analysis found that individuals of European ancestry make up the vast majority of the participants in genomics research.
NHGRI's leadership recently published a perspective in Nature Reviews Genetics that lays out the challenges to achieving diversity in genomics 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.
On December 1, 2017, an NHGRI leadership team took part in a Reddit "Ask Me Anything" (AMA) to discuss the variety of ways in which participant diversity can expand the translation of research findings and the steps they're taking to ensure all populations are included. Our hosts were Eric Green, M.D., Ph.D., director of NHGRI; Vence Bonham, J.D., senior advisor to the director on genomics and health disparities, and associate investigator for the Social and Behavioral Research Branch at NHGRI; Lucia Hindorff, Ph.D., M.P.H., program director with the Division of Genomic Medicine at NHGRI; Teri Manolio, M.D., Ph.D., division director for the Division of Genomic Medicine; Larry Brody, Ph.D., division director for the Division of Genomics and Society; and Maggie Ginoza, B.S., program analyst with the Divisions of Genomic Medicine and Genomics and Society. Here, we recap the event (or you can check out Reddit Science's page to view the full "AMA"!)
Overall, the team answered nearly 20 questions on topics that ranged from addressing the ethical hurdles of recruiting diverse participants in genomic studies, to the factors that play into creating diverse study populations.
From kiri-kin-tha: Thanks for doing this event! What are some of the biggest practical and ethical hurdles in recruiting diverse participants for genome research?
From the National Human Genome Research Institute: Hi, this is Vence! Great question! It is important that when recruiting participants in genomic studies that you inform the prospective participant about the objectives of the study and be clear that they will not necessarily benefit from participating in the study as an individual. In the past, there have been ethical abuses in research that have created mistrust among some regarding participating in research in research studies (e.g. U.S. Public Health Services Syphilis Study (https://www.cdc.gov/tuskegee/timeline.htm); and the Guatemala Study (http://www.nytimes.com/2010/10/02/health/research/02infect.html). As researchers, we must learn from those experiences to create an ethical environment for research.
It is important to know that a number of studies have documented that individuals from diverse communities are willing and interested in participating research (http://journals.plos.org/plosmedicine/article?id=10.1371/journal.pmed.0030019) and that we have an obligation to invite individuals from diverse backgrounds to participate in genome research. An additional practical consideration is that we need to increase the number of scientists who come from diverse backgrounds.
NHGRI also received a question regarding how the next generation of scientists can garner attention for this type of work.
From 823freckles: Hi, and thank you for this AMA! I'm currently involved in genomics research, but at a lower level. I'm a research coordinator. However, I plan to stay in this field, and hopefully move up. It's exciting to see more focus on this topic, in yours and recent articles. However, working in a predominantly wealthy and Caucasian health system, I do not see engaging minority and lower-income populations in genetic research, within my own health system and others, being given much attention and especially, action, by those with policy influence. So, my question is, since this is an area of passion for me, what can the next generation of scientists, like myself, do at this time to help this area get more attention and focus? Thank you!
From the National Human Genome Research Institute: Hi, this is Eric Green. For starters, let me applaud you for your passion about this important topic and its associated complex issues. Having highly engaged professionals, like you, with an appreciation of the importance of ensuring diversity in genomics and genomic medicine implementation will be critical for ensuring health equity. There are a number of ongoing research efforts, many of which are mentioned in our Nature Reviews Genetics article (https://www.nature.com/articles/nrg.2017.89?WT.feed_name=subjects_scientific-community-and-society), that aim to enhance diversity in 'all-things genomics'; in the long-run, such efforts will need champions to conduct the research and to disseminate best practices across different settings. I would urge you to stay engaged, spread the word, and bring your passion to these ongoing and future efforts. I honestly believe there will be meaningful opportunities for professionals of various types to help in getting more attention and focus to this important area. Hopefully, you will be among them!
And, finally, the Reddit community wanted to know what is the difference between terminology, such as precision medicine or personalized medicine?
From craftsroom: I've noticed a number of health care providers using terms like precision medicine, or personalized medicine, or treatments tailor-made for you. (As well as drug commercials that seem to target a very specific subset of patients). Does the general public have an adequate understanding of this concept? Is there a certain amount of "hype" that we need to watch out for?
From the National Human Genome Research Institute: Many use these terms interchangeably, whereas others consider them to have slightly different meanings. So, to be honest, it is difficult to imagine the general public would always have a good understanding of what is meant by each. We're probably safest in defining precision or personalized medicine as treatments selected for an individual patient based on what we know of his/her unique genetic and behavioral characteristics, environmental exposures, and personal preferences. It will also be difficult to truly achieve "treatments tailor-made" for each individual; so, yes, it will be important to avoid hype in discussing these advances.
Posted: December 8, 2017