The Urgent Need for Diversity, Equity and Inclusion in Genetic Studies

Dr. Allyn Auslander, Associate Vice President of Research, Operation Smile

This article was originally published on the International Business Times.

Operation Smile and its International Family Study (IFS) team follow a series of steps to conduct their research during medical missions in a handful of countries — from Guatemala to Madagascar to the Philippines — where there are especially elevated numbers of people born with cleft conditions. Operation Smile photo: Jessica Brandi Lifland.

I’ve been lucky (and privileged) enough to travel to many low- and middle-income countries for my research. The commonalities I’ve seen are comforting and inspirational — the kindness of families to complete strangers, the laughter and joy of children playing, and the intense dedication of local health care providers to serve their communities.

My biggest shock and concern, however, after years of family and friends asking, “Aren’t you scared?” or my favorite, “Isn’t it dangerous?” — both of which I answer with a resounding, “No,” — has been the smell of smoke hanging heavy in the air.

As an epidemiologist studying environmental and genetic risk factors for orofacial cleft conditions, the memory of that stinging smell, whether in Madagascar, the Philippines or Nicaragua, symbolizes a much larger issue in the research community.

As of 2019, our International Family Study has collected more than 16,000 individual saliva samples representing more than 7,000 families, creating the largest and most diverse genetic repository of cleft samples globally. Operation Smile photo: Margherita Mirabella.

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

This leads to new questions: If women aren’t smoking during pregnancy, what are the risk factors for children being born with cleft conditions in their communities? Why does the smell of smoke follow you around throughout in low- and middle-income countries?

Unfortunately, in low- and middle-income countries (LMICs), it’s another type of inhalable smoke that’s in ample supply. Many women cook over open flames and inhale smoke constantly.

Preliminary research conducted by the organization and its partners suggests a potential link between cooking smoke inhalation and an increased risk of having a child with a cleft condition. Operation Smile photo: Jörgen Hildebrandt.

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

Through the International Family Study of Nonsyndromic Orofacial Clefts (IFS), conducted through a pioneering partnership between Operation Smile, the University of Southern California and Children’s Hospital Los Angeles, we’ve discovered evidence suggesting that the risk of a child being born with a cleft condition may increase by up to 49% due to the inhalation of cook smoke during pregnancy after taking other smoke sources into account.

Conducted in a high-income context, there was never an apparent need to study the effects of maternal indoor cook smoke inhalation.

Instead, “Smoke exposure must only be cigarettes,” and thus, those findings are enshrined into the canon of epidemiological knowledge. But there’s this 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’s firmly entrenched on another side of cleft research — genetics.

Ma Te and her 14-month-old son, Ton, await for their chance to receive life-changing surgery during a 2006 surgical program in Mae Sot, Thailand. Operation Smile photo: Marc Ascher.

A 2019 white paper published by Giorgio Sirugo et al. in Cell found that 78% of all Genome-Wide Association Studies (GWAS) were purportedly of European ancestry. Meanwhile, only 2% focus on African populations and 1% on Hispanic or Latino representations.

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

The problem, however, is that different ethnic groups have diverse genetic structures. Therefore, personalized medicine is not a one-size-fits-all solution, even though we have a tendency to treat it as such. If we do, our solutions, similar to the wrong type of smoke exposure being focused on for the majority of individuals who need prevention, will be off base.

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

The vision of the IFS — the world’s largest repository of genetic data collected from people living in low- and middle-income countries with orofacial cleft conditions — is to, put simply, prevent the cleft conditions from occurring in the first place.

For Operation Smile volunteer and IFS team member JR Lado of the Philippines, nailing down the cause of cleft — and finding a solution — is a personal mission. In 2009, JR received surgery for his cleft condition from Operation Smile and has been a dedicated volunteer ever since, working for medical records and then serving on the IFS team. Photo courtesy of Aeson Baldevia.

All of this fuels my passion for the IFS and the idea that the onus is on NGOs like Operation Smile to invest in research of this nature. I’m often asked by folks outside of the scientific, medical and humanitarian spaces, “Providing cleft surgery is great, but what can be done to prevent it?”

NGO’s must also take up the mantle of such research and development projects because they understand the cultural norms and structural systems of the countries in which they are already operating. Furthermore, with an established presence on the ground, they have the trust of the local community and know what their patients need.

With that said, they can’t do it without partnerships with major hospitals and higher learning institutions who have the scientific infrastructure, standards and rigor to ensure the proper design, collection, and interpretation of data.

Without robust investments in projects that focus on the people who are underrepresented in medical and scientific research, there’s very little we’ll be able to do to prevent disease and design context-appropriate interventions that improve health. Even worse, if treatments are only created for those living in high-income countries, it could take a decade (how long it takes to create a new pharmaceutical) or longer to tailor those treatments to different communities in LMICs as doctors would most likely have to work backwards.

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

Operation Smile photo: Zute Lightfoot.

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Operation Smile

Through our expertise in treating cleft lip and cleft palate, we create solutions that deliver safe surgery to people where it’s needed most. operationsmile.org