DNA: databases become more diverse – 02/24/2024 – Marcelo Leite

Ten days ago marked 23 years since the publication of the first two drafts of the human genome, with great fanfare and promises of a future of personalized medicine. Almost a quarter of a century! —and the promise is still debt.

One of the reasons is that genomics remains not very inclusive. The lack of population diversity in genetic databases had been slowly declining, but now appears to have taken a leap forward with the North American All of Us project (all of us, in English, actually an inaccuracy, as will be seen below).

The first draft, the work of the official Human Genome Project (PGH), was published in the scientific journal Nature and had cost more than US$3 billion. The other, from the company Celera, was cheaper, and was launched simultaneously by competitor Science after an agreement involving President Bill Clinton (USA) and Prime Minister Tony Blair (United Kingdom).

The idea was that, having at hand a reference list of all genes and DNA sequences neighboring them, it would be possible to detect mutations in each individual that would give clues to diseases and treatments. I’m simplifying things a lot, but the genomic propaganda was a bit crude, really.

The problem is that there cannot be a reference list, as there are millions of variations in the letters of the genetic code between individuals. Some with serious or considerable consequences, others not so much. The possible combinations between them proliferate in astronomical quantities.

Furthermore, over time it became clearer that most health problems have a polygenic origin. In other words, many genes that specify proteins (or fail to do so correctly for the organism) participate, as well as other sequences whose functions are poorly understood.

To say nothing, of course, about the interactions between the person’s genetic makeup and their way of life, the environment where they live or grew up, whether they do physical activity, what their diet is, etc.

To account for all this complexity, studies have multiplied to correlate genetic variations with individuals’ illnesses or symptoms. Knowing many DNA sequences and their combinations, in legions of people, it would be possible to predict the risk for other individuals.

The limitation, then, became the lack of diversity in genetic databases. In what was until now the largest of them, the British UK Biobank, 88% of the data comes from white people.

Then the All of Us project emerged, for which another US$3.1 billion has already been allocated. In truth, it’s not “all of us”, but all of them: the data was collected only in the United States.

In any case, the diversity deposited in this genetic base, compiled in a multiracial country like the USA, has greatly increased. Almost half of the volunteers who provided their DNA and health records declared themselves non-white (black, Latino, indigenous).

A series of articles derived from the project published on Monday (19) in journals from the Nature group presented the first wave of data from All of Us, which aims to collect genetic and medical information from 1 million people. This batch included 245 thousand genomes.

The algorithms detected 275 million genetic markers, 150 of which are related to type 2 diabetes, which affects 1 in 10 Americans. Such information would make it easier to identify more accurately and prevent the progression of the problem among a greater diversity of people, not just those of European origin.

This is an advance. But, in this sense, it is difficult to shake the impression that such personalized medicine will only be available to our grandchildren or great-grandchildren — who will also have much more serious things to worry about, such as the extreme events of the climate driven crazy by global warming that we will bequeath. to them.

LINK PRESENT: Did you like this text? Subscribers can access five free accesses from any link per day. Just click the blue F below.