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Precision Medicine Depends on Patient and Research Diversity

July 25, 2019

As medical researchers steadily amass knowledge of the human genome, there’s a stubborn blind spot: Most genomic research arises from subjects of white European descent. In 2,500 recently published human genomics papers reviewed in one recent study, only 19% of the participants were of non-European ancestry.

The diversity deficit is a problem: At stake is the success of precision medicine for people of different racial and ethnic groups, which have disparate health outcomes and appear to have distinctive genetic variants associated with disease.

Research uncovers new variants among non-white patients

Researchers working on the problem recently identified 27 new genomic variants associated with conditions such as blood pressure, type II diabetes, cigarette use and chronic kidney disease in diverse populations, according to the National Human Genome Research Institute, which co-funded the study of nearly 50,000 African-American, Hispanic/Latino, Asian, Native Hawaiian, and Native American and people who identified as others.

“This is an extremely important public health issue,” said study co-author Misa Graff, assistant professor in the epidemiology department at the University of North Carolina at Chapel Hill Gillings School of Global Public Health: “We need to work hard to make sure that the populations most burdened by disease are not overlooked by genomic studies, because we cannot afford for disease disparities to get worse. Understanding the genes in these populations is key to targeting prevention and designing drugs that can better target their illnesses and improve quality of life.”

One important factor is access to human biospecimens

We at iSpecimen want to be part of the solution. Difficulty accessing quality human biospecimens from any demographic group has long slowed research of all kinds, even research using biospecimens from homogenous populations. We’re committed to giving biomedical researchersunprecedented access to an ever-expanding array of quality human biospecimens from around the world. With scale and global sourcing breadth will hopefully come researchers’ ability to more easily assemble and study diverse specimen sets, or sets reflecting understudied demographics.

The more access researchers have to a larger, more diverse biospecimen catalog, the less they have to settle with whatever specimens they can get their hands on. That’s why today, the iSpecimen Marketplace enables access to more than 25 million human biospecimens, including banked research samples and clinical remnant samples, and access to millions of patients from whom samples can be prospectively collected. Our specimen provider network nowincludes organizations from Central America, South America, Asia and Europe.

We promise to continue to build our network of biospecimen suppliers and to foster broader sharing of specimens so that precision medicine eventually becomes more precise —and so that treatment tailored to the individual benefits every individual.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products. You can join for free and creating a login is easy. Request a quote or custom collection today.