The urgent need for diversity, equity and inclusion in genetic studies

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I have been fortunate (and privileged) to travel to many low and middle income countries for my research. The commonalities I have seen are heartwarming and inspiring – the kindness of families to complete strangers, the laughter and joy of children playing, and the intense dedication of local health care providers to serving their communities.

My biggest shock and my biggest worry, however, after years of family and friends asking, “Aren’t you afraid? Or my favorite, “Isn’t that dangerous?” – to which I both respond with a resounding “No” – was the smell of heavy smoke in the air.

As an epidemiologist studying the environmental and genetic risk factors for cleft mouth conditions, the memory of this pungent smell, whether in Madagascar, the Philippines or Nicaragua, symbolizes a much larger problem in the community. researchers.

Cleft conditions have been studied extensively for decades by European and North American researchers on primarily European and North American subjects. This has led to maternal smoking during pregnancy as the main reported environmental factor that increases the risk of a child being born with a cleft. But in remote and impoverished communities, cigarettes are a luxury most people, especially women, cannot afford.

This leads to new questions: if women do not smoke during pregnancy, what are the risk factors for children born with clefts in their community? Why does the smell of smoke follow you everywhere in low- and middle-income countries?

Unfortunately, in low and middle income countries (LMICs), this is another type of inhalable smoke that is widely available. Many women cook over open flames and constantly inhale smoke.

This type of smoke inhalation is the third leading cause of morbidity and mortality in women and children worldwide. Even though it is much more prevalent than smoking, it has been little studied as a risk factor for cleft because it does not occur where most research has taken place.

Through the international family study of non-syndromic orofacial clefts (IFS), conducted as part of a pioneering partnership between Operation Smile, the University of Southern California, and the Children’s Hospital of Los Angeles, we uncovered evidence suggesting that the risk of a child being born with a cleft condition can increase by up to 49% due to inhaling cooking smoke during pregnancy after accounting for other sources of smoke.

This evidence is compelling, but more importantly, it tells a different story than all of the research that precedes it. Conducted in a high-income setting, it was never necessary to study the effects of maternal inhalation of cooking smoke indoors.

Instead, “the exposure to smoke should only be from cigarettes” and, therefore, these findings are enshrined in the canon of epidemiological knowledge. But there is one thing – it ignores the realities of a vast majority of the world’s population.

This inequity is not only apparent when looking at environmental factors, but it is firmly entrenched on another side of cleft research – genetics.

A 2019 white paper published by Giorgio Sirugo et al. in Cell found that 78% of all genome-wide association studies (GWAS) were allegedly of European descent. Meanwhile, only 2% focus on African populations and 1% on Hispanic or Latino representations.

We are only just beginning to see the potential of personalized medicine, defined by the National Human Genome Research Institute as “an emerging medical practice that uses an individual’s genetic profile to guide decisions made about prevention, diagnosis and treatment. disease treatment. “It has the potential to become an intervention in genetic-driven diseases and one day could serve as a treatment for cleft lip and cleft palate among many other congenital conditions.

The problem, however, is that different ethnic groups have different genetic structures. Personalized medicine is therefore not a universal solution, although we tend to treat it as such. If we do, our solutions, similar to the wrong kind of smoke exposure that the majority of people in need of prevention focus on, will be irrelevant.

If the status quo of medical research and innovation holds, the same inequalities that ensure world-class medical care for people living in high-income environments will mean the majority of humanity – we’re talking billions of people. people – will continue to live without on a larger and larger scale. If you don’t have access to surgery, you’re less likely to be represented in research. If you are not represented in the search, the solutions may not work for your context.

The vision of IFS – the world’s largest repository of genetic data collected from people living in low- and middle-income countries with cleft mouth conditions – is, in layman’s terms, to prevent the conditions from lunge to occur in the first place. Just training more surgeons and providing surgeries may never be enough for the 5 billion people who don’t have access – we need to prevent disease.

It all fuels my passion for IFS and the idea that it is incumbent on NGOs like Operation Smile to invest in research of this nature. People outside of scientific, medical and humanitarian settings often ask me: “Performing cleft surgery is good, but what can be done to prevent it? “

NGOs must also take on the role of such research and development projects because they understand the cultural norms and structural systems of the countries in which they already operate. Plus, with an established presence in the field, they have the trust of the local community and know what their patients need.

That said, they cannot do this without partnerships with large hospitals and higher education institutions that have the scientific infrastructure, standards, and rigor to ensure the proper design, collection, and interpretation of evidence. data.

Without strong investments in projects focused on people who are underrepresented in medical and scientific research, there is little we can do to prevent disease and design context-appropriate interventions that improve health. Worse yet, if treatments are only created for people living in high-income countries, it could take a decade (how long does it take to create a new drug product) or more to adapt these treatments to different communities in LMICs. , as the doctors probably would have done. work backwards.

The era of personalized medicine is upon us. If, as the global health community, we profess that universal health coverage is a basic human right, then we must work towards a future state where these vital interventions are universal. I believe the first step is representation in research and there is a lot of work to be done.

Dr Allyn Auslander is Associate Vice President of Research at Operation Smile

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