Public health data — from surveys to peer-reviewed literature — is crucial in understanding and monitoring the health status of populations and in designing interventions for healthcare management. In the last decade, the healthcare industry has witnessed an exponential increase in the amount of data, including socioeconomic, biomedical, molecular and genetic information, that has allowed researchers to uncover previously unknown determinants of health and disease, design novel therapeutic interventions and even develop personalized medicine that tailors treatment to each individual’s needs. However, data availability is no exception to other forms of gross disparities that exist in healthcare globally.

Health data of indigenous populations, who are especially vulnerable to worse healthcare outcomes, remains scarce. Indigenous communities, especially those that reside in rural areas, have typically been excluded from most nationally representative public health surveys. Consequently, information about the prevalence and determinants of disease in these communities remains largely unknown.

A study led by researchers in the Genetic Heritage Group at NYU Abu Dhabi highlighted this issue when they found that the determinants of hypertension, or high blood pressure, in 12 indigenous populations in Nepal were different from those in worldwide populations. While education level, alcohol consumption and smoking have been reported as dominant risk factors for development of hypertension in other populations, including non-indigenous Nepali people, these factors were unable to explain the prevalence of hypertension in indigenous Nepali people.

This study calls to attention the importance of gathering specific data from indigenous populations in Nepal, and around the world, to identify risk factors and design improved, more inclusive public health strategies. Trends in health, disease and associated risk factors vary significantly between populations. Reasons why specific diseases exist in a population, as well as what impact these diseases have on people, are influenced by the way people live.

“Environmental, genetic and cultural factors that differ significantly between populations play a role in determining disease progression and response to treatments. These factors may especially vary in indigenous people who have distinct social and cultural practices and share close ancestral lineages,” said Tsedenia Denekew, a researcher at the GHG and lead author of the paper on hypertension. As such, results from studies that exclude indegenous populations would not be generalizable to these communities.

The GHG, in collaboration with the Public Health Research Center at NYUAD, is also working on characterizing the oral microbiome (the collection of all microbes that inhabit the oral cavity) of the Emirati population and assessing whether there are any associations between the oral microbiome and systemic diseases among the population. While there is a growing body of research done on the human microbiome in relevance to human health, most studies have been done on populations in highly developed countries. A meta-analysis conducted by Abdill et al., reported that more than 71 percent of samples from the world’s three largest microbiome data repositories with a known origin come from the US, Canada and Europe. Since the human microbiome composition varies significantly between populations (even among healthy individuals), identifying associations between the microbiome and human health requires a broader geographical coverage of sample population. The Emirati population are amongst the most understudied populations in human microbiome studies.

“The rates of systemic diseases, such as obesity and hypertension, that typically affect older people, have been found to be very high in the young Emirati cohort. We are curious to see if there are any associations between the oral microbiome and these conditions in this population,” remarked Denekew.

Likewise, a large majority of human genomic studies are also dominated by highly developed countries. Genome-wide association studies, that seek to find associations between specific genes and their phenotypic traits (including disease conditions) have primarily just been done on people with a European descent.

“We need to diversify genetic studies in order to better study medically-relevant variants that may be in low frequency or be entirely absent in populations of European ancestry,” said Mark Penjueli, Class of 2022 and former capstone student at the GHG. Addressing this gap, Rita Fahmy, Class of 2023 and also a capstone student at the GHG, is currently involved in a study that seeks to identify links between certain genetic mutations and phenotypes in various Himalayan subpopulations. “I’m passionate about this project because ... it inspires me to continue this line of [research] with [people of] my own ethnic background in Egypt in the future who are also largely understudied,” commented Fahmy.

There are multiple challenges associated with conducting research in developing nations, especially on indigenous groups from remote areas. “There are roadblocks in every step of the way,” said Aashish Jha, Assistant Professor of Biology at NYUAD and Principle Investigator at the GHG. He claimed that it is difficult to secure funding to go work on these populations due to the many uncertainties involved in the process.

“We don’t know if we will be able to collect and preserve samples at high quality, or whether we will even be able to receive permits to go to these places, so it is not easy to acquire funding. Sometimes they do not understand what we are trying to do, and may be reluctant to give out permits,” shared Jha. He further explained that even after securing funding and permits, it is a monumental effort to go to some of these locations and carry out scientific research. He gave an example of how he has to go to extremely remote locations, sometimes without bathrooms, to collect fecal microbial samples from people.

Finally, he commented on the barriers in publishing findings from these studies that would inherently have a lower sample size, given the difficulties of sample collection in said locations. “Reviewers are expecting thousands of samples in genomics … these days, it is difficult to convince them [to publish results from] the 300 samples we barely managed.”

The scientific community at large needs to recognize the issue of underrepresentation of certain populations in medical and public health research and make conscious efforts to facilitate their inclusion. Research-funding agencies and institutions must actively redirect more resources to drive research in places that are harder to reach. Individual labs should optimize sample collection and processing protocols that are feasible to carry out in resource-constrained settings.

“I strongly believe that for a sustainable research [practice] in any community, every aspect of the research should be done by members of that community,” said Jha. He explained how that has not been possible in the status quo due to low education rates, among other factors, in these communities. He suggested that funding institutions should support middle and high school students in these communities with educational grants — as well as provide mentorship, build libraries and provide scientific training — so that young people from these underrepresented groups are able to become scientists who can conduct research in their own communities. “Institutions like NYUAD that care about diversity and inclusion should bring in people from these diverse backgrounds and invest in their education,” he added.

Likewise, Penjueli shared, “I personally believe that upskilling members of understudied populations [is important] so that they eventually become their own genome experts. As a Polynesian, I’ve been fortunate to get the opportunity to carry out research on Polynesian population genetics. So my hope is that other students who come from understudied backgrounds get the same.”

The first few times I heard the names of Nepali ethnic groups being taken in lab meetings at NYUAD, I found it jarring. As someone who is constantly expected to assimilate to more dominant populations/demographics (that also happen to be white or Euro-American), which includes learning about their people and their history, the experience of having researchers from all over the world discuss and analyze the history and health of my people was new. That is how ingrained being underrepresented in most forms of knowledge production was to me. And while my socioeconomic privileges within my country have afforded me the education and experiences that equip me to start breaking that cycle, I know that a majority of young people in Nepal from less privileged, indigenous backgrounds do not have the same opportunities. So I, too, hope for more grassroots, bottom-up changes to happen that empower individuals within these communities to drive health studies (and academia in general) towards inclusion and equality.