NIH study reveals 275 million entirely new genetic variants that could explain why some Americans are susceptible to diseases like cancer and diabetes

More than 275 million completely new genetic variants have been discovered in humans – and some of them could reveal a higher risk of cancer.

Researchers led by the National Institute of Health (NIH) in Bethesda, Maryland, revealed the findings after studying the genomes of 245,000 Americans, about half of whom came from minority backgrounds.

Most of them had no effect on health, the researchers said, but 4 million of them were detected on genes linked to a higher risk of cancer, diabetes and heart disease – among other conditions.

Dr. Josh Denny, the study’s lead author, said: ‘Sequencing diverse populations could lead to new drug targets that are relevant to everyone.

‘It could also help reveal differences that lead to specific treatments for people who experience higher disease burdens or other diseases.’

He added: ‘This is huge.’

The research is part of the All of Us program, the $3.1 billion national project that aims to “bridge the gap” in gene research that has so far focused primarily on people from white backgrounds .

According to estimates, nearly 90 percent of genetic studies to date have been conducted on people of European descent.

The project aims to change this by assessing the health profiles – including genetics – of one million American adults, about half of whom are from minority groups, by the end of 2026.

Dr. Alicia Martin, a population geneticist at Massachusetts General Hospital in Boston, said the project was a “tremendous resource, especially for African American, Hispanic and Latinx genomes.”

“That is sorely lacking in the vast majority of large-scale biobank resources and genomics consortia,” she added. Nature.

“It’s obviously a huge gap because most of the world’s population is not of European descent,” Dr. Denny said.

Recent studies have already shown how genetic diversity can influence disease risk.

Variants in the APOL1 gene discovered in 2010 are responsible for 70 percent of the increased risk of chronic kidney disease and dialysis among people in the U.S. with sub-Saharan African ancestry.

Similarly, a class of drugs called PCSK9 inhibitors, which dramatically lower very high levels of low-density lipoprotein (LDL) – the so-called bad cholesterol – was discovered by sequencing the genetic code of 5,000 people in Dallas of African descent.

Much more work is needed to understand how the new wealth of genetic variants contribute to different health problems, but the scientists think they could be used to refine the tools used to measure a person’s risk for disease. calculate.

The findings were revealed in a package of papers published by Nature, Communications Biology and Nature Medicine.