The NIH on accelerating research using diverse biomedical datasets

Martin Mendoza, PhD, director of health equity and health science policy for the All of Us Research Program at the National Institutes of Health (NIH), tells pharmaphorum about the programme and how it will accelerate research for the benefit of all patients.

NIH's All of Us is building an extensive, diverse biomedical dataset to learn how biology, lifestyle, and environment affect one's health, and to accelerate research and improve personalised medicine options.

"The All of Us research program is an historic effort to partner with at least 1 million participants that reflect the diversity of the United States. We're trying to achieve here, at least in a very direct manner, to build one of the largest, most diverse biomedical data resources of its kind," Mendoza states.

This resource aims to improve precision medicine and drive research discoveries for all populations by including biomedical information from people often weary of providing such personal info.

Gathering data

The data collected is wide-ranging and includes a biosample (blood, urine, or saliva), electronic health records, physical measurements (height, weight, blood pressure, etc.), wearable data from a Fitbit or Apple Watch, and survey responses.

Currently, more than 350,000 participants have completed the initial or core steps of the programme.

About 50% of those participants self-identify as a racial or ethnic minority, and 80%, which includes the previous 50%, come from what the NIH terms a group underrepresented in biomedical research.

"This includes racial and ethnic minorities, sexual gender minorities, those who live in rural communities with disabilities, lower educational attainment, lower income, those with low access to health care and other underrepresented groups," Mendoza states.

This diverse cohort is crucial because medicine and research have often taken a one-size-fits-all approach, and many medical innovations developed over the last several decades have been based on research that excludes marginalized populations.

"That lack of diversity can inhibit scientific discovery, especially for those from underrepresented communities. When that happens, those that aren't included don't reap the benefits of the research advances of those medical breakthroughs," Mendoza states.

"What we're really trying to do is drive discoveries that can lead to more tailored prevention, diagnosis, and treatment for all individuals. We're doing this by engaging these diverse participants and encouraging diverse researchers across various settings. We want to tackle this from both the researcher's and participant's ends. This dual approach will lead to better medical research that will benefit all populations."

Many of the populations All of Us seeks to engage have been weary of providing such personal datasets to medical research institutions.

To engage these communities, Mendoza states that the program partners with a wide range of trusted community organisations, such as medical centres, academic institutions, nonprofit groups, and faith-based organisations.

All of Us also doesn't shy away from acknowledging past transgressions in medical research, like the Tuskegee Experiment or Henrietta Lacks.

"These events understandably have fostered justified mistrust among many of these communities. To build trust, we not only partner with […] trusted organisations, but we consider our participants as partners. In fact, we call them participant partners, and they help shape nearly every aspect of the programme," Mendoza states.

The groups participate in specified meetings with All of Us and are routinely asked for their input.

"Really, without their contributions and the ongoing engagement of our participant ambassadors, the programme would not be able to facilitate meaningful research," Mendoza states.

Another path All of Us takes to engage participants is its mobile bus, which it internally calls a Mobile Engagement Asset (MEA).

The MEA has recently restarted its travels across the US, going coast-to-coast and visiting particular communities that aren't as connected to one of NIH's enrolment centres.

"In partnership with local organisations, the bus is parked at strategic locations for several days to provide information about the programme. Potential participants can go through the full enrolment process at the mobile unit. This is all part of our strategy to really meet people where they are," Mendoza states.

The All of Us team is engaging these diverse communities to gather these datasets because it aims to use this information to impact clinical research.

Utilising the data

The datasets accelerate research primarily by acting as a resource to researchers, Mendoza says. More than 2,000 research projects are underway using All of Us' datasets, and more are added daily.

"It's really the work of researchers that will help us improve the understanding of health and a wide range of diseases,” Mendoza states.

“For example, in early 2020, we enrolled somewhere between 3,000 to 3,500 participants each week. In March 2020, when the pandemic hit, we had to pause in-person recruitment. But that also provided us with an unexpected finding."

All of Us researchers tested participants' blood samples donated between January and March of 2020 and found that COVID-19 was present in five US states – earlier than scientists initially thought.

While All of Us wasn't set up to study COVID-19 specifically, the scale and diversity in the multiple data types, the biosamples, and the longitudinal design enabled researchers to leverage the datasets.

"It shows the power of the All of Us data set and the potential to use it for research and ideas that folks had never even thought of. All of Us is designed as this long-term programme that will continue to build and deliver insights as the programme grows," Mendoza states.

"As we continue to build this robust foundation for medical research, we're hoping it can ultimately help deliver tailored or precision treatments and care, not just for some groups, but really for all groups; for all of us, if you will."

There's a great deal of momentum in the healthcare community, including the pharmaceutical sector, to increase personalised care options using data.

Minor variations in one's genetic makeup can impact individual responses to medication. Understanding these differences across diverse populations can help doctors and HCPs determine what medication and dosage best fit a patient.

"Pharmaceutical companies certainly stand to gain by advancing precision medicine, understanding how an individual's genetic and biological makeup will react to a medication. So, collecting data from a large, diverse population nationwide with a range of health experiences provides a resource for scientists to understand those response differences in advance better, to provide individualised care for everyone," Mendoza states.

"I would encourage the current efforts underway by the private sector, including the pharmaceutical industry, to continue their efforts to diversify their clinical trials and by doing so, that will help to develop medical products that work for everybody."

All of Us is currently looking at ways to share its data with the for-profit sector.

"We're really hoping that All of Us will have a formidable role in making precision medicine a routine practice. And ultimately, we're really hoping All of Us becomes an indispensable resource to the research community," Mendoza states.

About the interviewee

Martin Mendoza, PhD, serves as the director of health equity and health science policy for the All of Us Research Program, where he provides leadership and high-level expertise to improve inclusion and equity in precision medicine and address health equity issues for the programme. Before joining All of Us, Martin served as director of the Division of Policy and Data at the Office of Minority Health in the Office of the Secretary at the U.S. Department of Health and Human Services, charged with developing health policies and initiatives to eliminate health disparities and advance health equity. Previously, he led extramural research for minority health in the Office of the Commissioner at the U.S. Food and Drug Administration (FDA). He is a recognised expert in clinical trial diversity and while at the FDA testified before Congress in support of diverse clinical research inclusion. Martin is also the primary author of the pivotal FDA guidance document Collection of Race and Ethnicity Data in Clinical Trials.

About the author

Jessica Hagen is a freelance life sciences and health writer and project manager who has worked with medical XR companies, fiction/nonfiction authors, nonprofit and for-profit organisations, and government entities.