The Lack of Diversity in Biomedical Research has Deadly Consequences
Disease impacts everyone, but not in the same way. Disease risk and drug efficacy can vary a great deal across individuals, and unfortunately, much of what we know about diseases and drugs does not apply to ethnic minorities, because most studies have not adequately represented them as research subjects.
This is simply unacceptable, and all of us in the research community must do better. At NYSCF, we built our stem cell technologies with the aim of capturing genetic and ethnic diversity, to enable diseases to be studied at a population scale. We are now expanding our efforts to increase diversity within our research and deliver on the promise of precision medicine for all.
For Ethnic Minorities, The Benefits of Lifesaving Treatments Aren’t a Given
Tragically, ethnic minorities and inhabitants of developing countries are historically underrepresented in the development of drugs and therapeutics for diseases, and the inequity continues today.
“When we looked systematically at our own hospital-based data for neurological diseases, we found the data heavily skewed toward western European populations. We know this is a problem. These diseases are heterogeneous and we clearly do not serve our patients well when we do not have them represented in our studies,” said NYSCF – Robertson Stem Cell Investigator Vikram Khurana, MD, PhD, of Harvard University and Brigham and Women’s Hospital, whose research aims to identify genetic drivers of movement disorders such as Parkinson’s. “And beyond this, diverse populations can help solve disease-related problems that can be beneficial for everyone.”
“Biological data sets, especially when you’re looking at genetics, can be worthless if they aren’t diverse,” added Kristen Brennand, PhD, a NYSCF – Robertson Stem Cell Investigator Alumna from the Icahn School of Medicine at Mount Sinai. “The problem we often face is that we’re working exclusively with samples from white males. We are trying very hard to increase diversity, because without it, the results will only apply to one group.”
And when biological data is generated solely from Caucasian research subjects, treatments often end up being ineffective or dangerous for ethnic minorities.
Up to 75% of Pacific Islanders are unable to convert the antiplatelet drug clopidogrel into its active form and are at higher risk for adverse outcomes following angioplasty, a common therapy for cardiovascular disorders.
Similarly, emerging medical findings cannot always be applied to populations that were not included in the study. Even for cancer – a disease that can often be targeted with personalized treatments – this is still a major issue.
“A recent study reported that women who breastfeed significantly lowered their risk for ovarian cancer, but the finding was particular to white women because not enough Black or Asian women could be included in the analysis,” pointed out NYSCF’s Associate Vice President of Scientific Outreach Raeka Aiyar, PhD, at a panel discussion held this month on personalizing cancer care. “We see this happening over and over again, where ethnic minorities are underrepresented in research and clinical trials.”
Barriers to Wider Participation in Research and Clinical Trials
There are a few factors that play into the vast overrepresentation of Caucasians in research and clinical trials.
First, there is a long and horrific history of researchers abusing and violating minority patients, especially Black patients, which has understandably fueled reluctance to participate in research or clinical trials.
“There are unfortunately many examples of this,” remarked NYSCF Clinical Research Manager Lillian Mehran, MPH, CHES. “One is the Tuskegee syphilis study, in which Black men were told they were being treated for ‘bad blood’ — a colloquialism for ailments such as anemia, fatigue, or syphilis — but were never informed of the true purpose of the study, never given their diagnosis, and never received treatment (even after penicillin was established as effective). This went on for 40 years. There’s a burden on the research community to ensure that it is trustworthy, and this includes necessary oversight.”
There is also persistent underrepresentation of ethnic minorities within the research and medical workforce.
“Institutional review boards (tasked with ensuring research is conducted ethically) should have better representation,” added Ms. Mehran. “The research community needs to be more diverse too: we need all different viewpoints and perspectives and experiences in the room. Especially because science is a team sport and extremely collaborative, we need to make sure that all voices are being heard and represented.”
Finally, recruitment strategies for biomedical studies are often based on convenience.
“There’s a bit of convenience sampling that goes on, especially in clinical trials,” explained Ms. Mehran. “So, for example, if a clinical trial is happening at a certain hospital, the researchers will often just recruit patients in that hospital, but these patients may not be representative of the general population that carries the burden of a disease.”
“Diverse recruitment must be an active process, rather than a passive one. We need to break down cross-institutional barriers, employ alternative models, and take advantage of existing programs,” agreed Dr. Khurana. “For instance, my home institution Brigham and Women’s Hospital has a collaborative outreach program with the Indian Health Service, sending physicians to Navajo Reservation sites within New Mexico and Arizona.”
How Can We Ensure that the Promise of Stem Cell Research Reaches Everyone?
“We’ve had a longstanding interest in this area,” remarked NYSCF Senior Vice President of Research Scott Noggle, PhD. “The original aspiration for the NYSCF Global Stem Cell Array® was to build a system that could accelerate studies of disease across populations. Because if we try to develop treatments using only samples and participants with European ancestries, there’s a good chance that those treatments might not work in other populations. We want to find treatments that work for everybody.”
The Array, NYSCF’s automated technology for producing stem cells, can make stem cells from hundreds of samples at a time, building a biobank of stem cell lines that could capture enough genetic diversity to allow assessments of personalized disease traits and drug efficacy.
“When building our biobank of skin or blood samples from which we make stem cell lines, our goal was to mimic the efforts like the 1000 Genomes Project, an effort aimed at sequencing the genomes of people from 26 different populations,” said Dr. Noggle. “We wanted our stem cells to represent genetic diversity as broadly as possible, and this is still a major goal of ours, one that we will be devoting more focus to in the near future.”
The skin and blood samples Dr. Noggle mentioned are collected through our clinical research program, and as the manager of this program, Ms. Mehran and her team oversee NYSCF’s efforts to increase diversity in participant recruitment.
“This is something that is always at the forefront of our minds,” she said. “We are continually trying to identify new strategies and avenues through which to recruit, whether that involves connecting with people online or through other groups we’ve formed partnerships with. It’s also been very reflexive: we assess what we can do better and never assume that we’re doing everything right.”
“One strategy we use is to partner with groups that have already established trust relationships with populations who have been particularly impacted by certain diseases,” explained Dr. Noggle. “They are able to communicate with those populations and stress the value of participating in our research.”
Collaborations are a large part of NYSCF’s efforts to increase diversity in our research. Our Women’s Reproductive Cancers Initiative is creating a biobank of tumor ‘avatars’ that can be used to understand and treat these highly individualized cancers, and we partner with physicians at New York-based institutions who provide our scientists with diverse tumor samples with which to create these models.
“New York City is such a multicultural space, and we have established partnerships with Weill Cornell Medicine and Memorial Sloan Kettering Cancer Center specifically so that we can collect samples from their diverse patient populations,” said NYSCF Research Investigator Laura Andres-Martin, PhD, who leads the Initiative. “Women’s reproductive cancers affect every patient differently, and we need to understand why certain groups experience the disease the way they do so we can ensure they receive the right treatments.”
This is also true for neurodegenerative diseases, which have been shown to often affect ethnic minorities differently than other populations. For example, studies have indicated that multiple sclerosis can be especially severe in Black patients. NYSCF collaborates with Johns Hopkins University on a precision medicine initiative that aims to understand such disparities and develop tailored therapies.
Our mission is to accelerate better treatments and cures for the major diseases of our time through stem cell research, and we cannot achieve this goal and deliver precision medicine to patients without ensuring our research includes diverse participants.
“While sample diversity has been an issue that we have always committed ourselves to addressing, there is still much more that we can do, and that we plan to do,” emphasized Dr. Noggle. “We’re working to amp up the diversity of our biobank as well as our efforts to address diseases that disproportionately affect underserved populations.”
And for those who have already participated in NYSCF’s research or are considering it, Ms. Mehran wants you to know that none of what we do is possible without you.
“I think that very often, when we talk about research and science, we’re focusing on the researchers, but participants play just as big a role. They make everything possible, and we have a responsibility to make sure that our work can be impactful for everyone.”