Home Health Race does not exist, diversity does: this is why medicine must take this into account

Race does not exist, diversity does: this is why medicine must take this into account

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Sometimes it resounds – perhaps unwittingly – in the medical faculties. Often peeps out of scientific articles. Occasionally it appears in clinical practice or in doctors’ offices. Everywhere in the world. But in most cases it assumes subtle, ambiguous forms, not immediately recognizable, and is also practiced by those who are in good faith. It is racism in medicine, a pressing issue especially in the United States where the New England Journal of Medicine has recently dedicated a debate between experts from different sectors: biologists, geneticists, doctors specializing in nephrology and psychiatry.

The central point is, first of all, what is meant by race when talking about the human species, and above all what kind of contribution this concept can give to the studies that try to explore, for example, if belonging to a given population represents a risk factor more (or less) of developing a given disease.

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Why do those we call African Americans die more often from Covid-19 than so-called Caucasians? Why does liver cirrhosis seem more aggressive among Hispanics living in North America? In other words: how important are the alleged genetic differences between different populations when it comes to the incidence of different diseases, but also to drug efficacy or adverse reactions? Or it is rather other factors – for example those linked to the degree of education, the socioeconomic level, the areas of the world in which one lives – that determine the spread of certain pathologies, the possibilities of access to treatment and consequently also the outcomes of therapies. ?

“Up until about fifteen years ago, you couldn’t talk about race in scientific journals,” he explains Guido Barbujani, professor of genetics at the University of Ferrara, who has been dealing with the topic for years (his book The invention of races dates back to 2006). On the one hand the anthropologists, according to whom the problem was solved: the races, in man, do not exist. On the other hand the clinicians, according to whom the differences exist and how we must take them into account, but racism is a bad thing and therefore it is better for them too not to talk about it explicitly. Two disciplinary areas that had eliminated the problem at its root, so to speak, albeit in the opposite way. As a geneticist, Barbujani is with anthropologists: “The concept of human races does not help us understand our differences. It is nineteenth-century, influenced by our social being. A typical example is that of the former president of the United States, Barack Obama: socially recognized as “black”, actually the son of a Kansas woman and a Kenyan, he escapes any racial classification “.

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Yet there are diseases in which genetics play a role. Isn’t it important information for medical researchers to know that, for example, some variants of the ApoL1 gene that are found with some frequency in people of West African descent are associated with an increased risk of kidney disease? “Certainly yes – adds Barbujani – there are many diseases or disorders for which people of different origins have different risks of getting sick, and it is obvious that coming from a geographical area rather than from another influences these things. But the racial classification does not it helps at all. For example: Tay-Sachs disease is considered typical of Ashkenazi Jews, where one in 3,500 newborns has this disease, compared to one in 300 thousand in other populations, among the latter there are Sephardic Jews. that Ashkenazi and Sephardi are two different races? Frankly, I’d forget it. “

Still, the concept of human races dies hard. Also because it has its roots in a distant time. “The biological conception of the race has an ancient history, and dates back to at least the fifth century BC,” he explains Joseph Graves, a biologist at North Carolina A&T State University: “And by the time Linnaeus wrote his Systema Naturae in 1735, the concept of variety was already well established. Linnaeus, however, did not mention human varieties until the tenth edition of 1758, when the social definitions of race linked to colonialism and slavery “.

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The fact is that each of us is the result of a great mix of lineages. In the nineteenth century, when genetics were not developed, a division into physical types could also be understandable. Now that we know much more, we have seen that our genomes are 99.8% identical everywhere, and therefore their differences concern a very small fraction, only 0.2%.

“Yet – underlines Sarah Tishkoff, who teaches genetics and biology at the University of Pennsylvania and directs the Center for Global Genomics and Health Equity – we cannot ignore the fact that there is a genetic diversity, although what we see between different human populations (which represents about a tenth of that 0.2% of existing differences) is relatively small compared to what we find between individuals of the same population (about nine tenths). The great similarity between all our DNAs is one of the consequences of the fact that all modern humans have a relatively recent African origin. “

This is why we see more variation in Africa than anywhere else in the world, not just within the populations themselves, but between different populations. “A fact – continues the scholar – that should sweep away any idea of ​​an” African race “, because there are often greater differences between African populations than between populations of different continents”.

And yet we cannot ignore that there are differences, as a result of our demographic history, the history of the population and the adaptation to different environments. Differences that need to be investigated in medicine. Natural selection can sometimes spread random mutations that may be associated with the risk of a particular disease. And this factor, when it comes to health, cannot and must not be overlooked.

For this, the scholars agree, a greater inclusion of diversity in clinical studies is needed: “which means conducting experiments on samples that are not made up of Western white males only – says Barbujani – as is too often the case”. There are variables that we certainly do not find in all Africans, but perhaps in 10% yes, and which are not found in Europe. So to determine the dosage of a drug or its effectiveness it is necessary to consider humanity as a whole, not just a slice.

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But if biological races do not exist, there are other determinants that make the difference between health and disease, and which are often socially associated with the concept of race. “Let’s talk – underlines for example Win Williams, a nephrologist at Massachusetts General Hospital and an associate professor of medicine at Harvard Medical School – of those resources that should be equally accessible to all (such as housing, education, employment, access to credit, information and health care) and the distribution of which is very unequal among the different communities. In Boston, white families have an average net worth of around $ 250,000, while black families have an average net worth close to zero. This wealth gap generates deep and substantial inequalities in communities, and makes a difference in terms of health equity. These are above all the factors to be evaluated when studying a pathology and its treatment “.

A road with many obstacles, among which certainly that of training. “Every now and then someone points out to me that in the biology books for future doctors we talk about five human races. This is because doctors are mainly interested in the clinical aspects, they neglect what has happened in other disciplines such as genetics, which in the in recent years it has helped to clarify many aspects of the question “, continues Barbujani. Therefore, a first step should be to update the Academy.

But the real breakthrough will come when we stop thinking in terms of races, communities, ethnicities or populations, and reach true personalized medicine. “We must move from a racial medicine, which has never worked, to a true precision medicine – concludes Barbujani – which consists in going to look at a patient’s individual characteristics. So we will no longer be able to distinguish between black, white, Asian but between black and black, Asian and Asian, white and white “.


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