Study Findings Highlight the Need for Diversity in Genomic Research
More than three-quarters of genomic data is derived from people of European descent, leaving other ethnic groups understudied. To address this problem, researchers from the Icahn School of Medicine at Mount Sinai, the Fred Hutchinson Cancer Research Center in Seattle, and a number of other academic centers have analyzed the genomes of nearly 50,000 non-European individuals to maximize genetic discovery and lessen clinical disparities. As described in a paper published today in Nature, this collaborative study revealed nearly 1,500 associations between genes and disease in minority populations, serving as a prime example of what racially inclusive research can bring.
The study, known as PAGE—Population Architecture using Genomics and Epidemiology—was founded by the National Human Genome Research Institute and National Institute on Minority Health and Health Disparities to research the correlation between genetics and disease in ethnically diverse individuals in the United States. In analyzing the genetic code of these diverse populations and comparing them to those of European descent, researchers identified 27 new genetic associations that have not been found previously in European populations, but have the potential to be transferable to other groups that share components of genetic lineage, such as African ancestry, which can be found in both African Americans and Hispanics/Latinos. Given that these two groups remain the most understudied populations in genomic research, Mount Sinai and Fred Hutchinson researchers are left wondering what other ancestral associations remain undiscovered.
“To date, millions of genomes have been sequenced, but ethnic diversity remains an unmet need,” said Eimear Kenny, PhD, Associate Professor of Medicine and Genetics at the Icahn School of Medicine at Mount Sinai, Director of the Center for Genomic Health, and co-senior author of the publication. “Because the availability of non-European genomic data is limited, much of the existing clinical therapies disproportionately benefit those of European descent – further widening the health disparities gap.”
Christopher Carlson, PhD, Associate Member of the Public Health Sciences Division at Fred Hutchinson and co-corresponding author of the publication, added, “Previous articles have alluded to the need for multi-ethnic diversity in genome-wide studies, but this study is among the first to clearly delineate the scope of the problem, using detailed analyses of minority genetic samples.”
As we enter an era of a more racially diverse America, the need to understand the genetic underpinnings of disease affecting nonwhites has become increasingly crucial—especially with the widespread adoption of precision medicine, a medical model focused on treating and preventing illness by means of genetic evaluation.
The newfound connections between genes and disease in ethnic minorities uncovered in this study not only indicate that we have more work to do, but most importantly, that an increase in analysis of non-European populations could mean increased clinical options for all.
About the Mount Sinai Health System
The Mount Sinai Health System is New York City's largest integrated delivery system, encompassing eight hospitals, a leading medical school, and a vast network of ambulatory practices throughout the greater New York region. Mount Sinai's vision is to produce the safest care, the highest quality, the highest satisfaction, the best access and the best value of any health system in the nation. The Health System includes approximately 7,480 primary and specialty care physicians; 11 joint-venture ambulatory surgery centers; more than 410 ambulatory practices throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and 31 affiliated community health centers. The Icahn School of Medicine is one of three medical schools that have earned distinction by multiple indicators: ranked in the top 20 by U.S. News & World Report's "Best Medical Schools", aligned with a U.S. News & World Report's "Honor Roll" Hospital, No. 12 in the nation for National Institutes of Health funding, and among the top 10 most innovative research institutions as ranked by the journal Nature in its Nature Innovation Index. This reflects a special level of excellence in education, clinical practice, and research. The Mount Sinai Hospital is ranked No. 14 on U.S. News & World Report's "Honor Roll" of top U.S. hospitals; it is one of the nation's top 20 hospitals in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Geriatrics, Gynecology, Nephrology, Neurology/Neurosurgery, and Orthopedics in the 2019-2020 "Best Hospitals" issue. Mount Sinai's Kravis Children's Hospital also is ranked nationally in five out of ten pediatric specialties by U.S. News & World Report. The New York Eye and Ear Infirmary of Mount Sinai is ranked 12th nationally for Ophthalmology and Mount Sinai South Nassau is ranked 35th nationally for Urology. Mount Sinai Beth Israel, Mount Sinai St. Luke's, Mount Sinai West, and Mount Sinai South Nassau are ranked regionally.