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Around the turn of the century, the sequencing of the first human genome was published, leading to a wave of research and therapeutic advances that changed the way we think about disease diagnostics, prediction and care. But big gaps in knowledge remained, due to the “incompleteness” of this initial dataset that predominantly focused on the genes of people with European ancestry.

Advancing genomic research with diverse populations

Genetics databases function best when they reflect humanity’s broad spectrum of ethnic, racial, and genetic diversity, so that the actionable insights and subsequent research can ultimately benefit all populations. Without genomic diversity in research, new discoveries – such as understanding how certain diseases affect certain populations – will disproportionately benefit white and European-centric populations who are already generally better served by healthcare systems. The full potential of genetics medicine cannot be fulfilled without diverse representation in genetics sequencing.

A key example is the Hispanic/Latino community which makes up approximately 10% of the global population, but represent less than 1% of individuals reflected in genomic research. Given the lack of representation, medicines derived today from genetic discoveries and genome sequencing are likely not sufficiently considering the Hispanic/Latino population.

Mexican epidemiologists from the National Autonomous University of Mexico (UNAM) realized this gap in knowledge decades ago and sought to address it.

A real-world look at genomic diversity in research

Enter the Mexico City Prospective Study (MCPS). This study was established in the mid-1990s following discussions between the UNAM epidemiologists and British epidemiologists from the University of Oxford about how best to measure the changing health effects of tobacco in Mexico. These discussions evolved into a plan to establish a prospective cohort study that could investigate not only the health effects of tobacco, but also those of many other factors.

Between 1998 and 2004, researchers in Mexico enrolled more than 150,000 volunteers into MCPS. Even back in the 1990’s, the study investigators were forward-looking and specifically included future analysis of genetic factors in the consent forms for the volunteers, who were informed that the purpose of the study was to benefit all Mexicans in the future.

This research has already made an impact, thanks to the Mexican team of researchers who discovered that mortality risk ratios associated with previously-diagnosed diabetes were twice as large as had been assumed based on evidence from high-income populations (Alegre-Diaz et al. NEJM 2016). These results led to national changes in health policy like encouraging better diabetes control and increased use of cardioprotective treatments, to the benefit of Mexico.

When it came to genetic analyses, the Mexican researchers encountered limited sequencing and genotyping capacity, so they called on Oxford to tap Regeneron Genetics Center (RGC) to provide the needed sequencing expertise. Together, the three collaborators actively discussed and analyzed the genetic findings from RGC’s exome sequencing and whole genome array genotyping for all 150,000 MCPS participants.

“From the beginning of our collaboration, working with the University of Oxford and RGC has helped to facilitate the development of this valuable data set, which is now being used by Mexican investigators to advance ‘in-country’ research that will benefit those of Latino ancestry around the world,” said the Mexican MCPS lead investigators, all former or current professors at UNAM. “MCPS represents a major step toward increasing the diversity of genomic research and will become an important tool to improve genomic medicine and personalized care, while facilitating human genetics research in an often-overlooked population.”

Additionally, RGC is diving deeper by sequencing 10,000 genomes to create a first-of-its-kind Mexican reference genome and imputation server. Collectively, this will serve as a valuable resource not only for Mexicans, but also for a wider population of Mexican Americans or Hispanic/Latino people with overlapping ancestry, in total representing at least 150 million people.

Furthermore, ensuring that data is open and accessible is extremely important when considering the global scale of genomic sequencing projects. That is why the University of Oxford, UNAM, and RGC launched the MCPS Variant Browser in June 2022, making these data freely accessible to the scientific community and facilitating future genomic research – with Mexican scientists receiving priority access.

The future of representative research

With an ever-growing set of data, opportunities for therapeutic advances are more readily available, more diverse in nature, and more evidence-based than ever before. Projects like the MCPS are just the beginning.

The next generation of scientists will need to continue this crucial work, and in order for that to happen, they need opportunities to advance their studies. Scientific career development was built into the MCPS collaboration, including funding from Oxford and RGC to conduct epidemiology training for a number of Mexican researchers through short-term courses, project placements, MSc and PhD degree programs, and post-doctoral research fellowships.

“Thanks to support from Oxford and RGC, we have been able to enhance the scientific skills of our budding research team,” commented the MCPS lead investigators. “We are now integrated with an outstanding group of young bioinformatics and genomic data analysts at UNAM’s Experimental Medicine Research Unit. Together, we are pursuing a range of other research topics related to MCPS and diving deeper in this diverse dataset to uncover powerful insights for Mexico and beyond.”

Our strength as a society has always been in our differences. Thanks to the tireless research of geneticists and epidemiologists around the world, a steady churn of progress is leveling the playing field and bringing hope to those committed to addressing health disparities globally.

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