Revealing the first human pangenome that could revolutionize medicine

The scientific community has just released an updated map of all human DNA, something that could help transform medical research.

The original genome was published 20 years ago, but has been recreated from a single person’s genetic informationsomething that does not represent the totality of human diversity.

The latest version of the genome has been dubbed the “pangenome” because it contains genetic information from 47 people.from Africa, Asia, America and Europe.

It is hoped that this will lead to the development of new drugs and treatments for a much wider range of people.

According to Eric Green, director of the Human Genome Research Institute in Bethesda, Maryland (USA), the research just published in the journal Nature medical studies could radically change.

“This represents a huge scientific advance,” he emphasizes.

“A pangenome that reflects the diversity of the human population will allow scientists to better understand how genetic variations influence health and disease, and move us into a future where medicine benefits everyone.”

interpret the data

The pangenome consists of 47 DNA maps of people with different ancestral lineages, which can also be combined and compared – through new software- to identify important genetic differences.

The goal is to develop more effective treatments for more people, but genetic scientists also know that the research can be misused.

Professor Muzlifah Haniffa, from the Sanger Institute in Newcastle, was not involved in the study, but says the science should not be misunderstood.

“Genetic information about diversity should be used responsibly, and not to provide evidence of differences between races, which is a concept created by society,” he says.

“We need to understand what it shows and, more importantly, what it doesn’t show. We must ensure that information is not taken in a very superficial way to establish false racial characteristics.”

the first genome

Most of the human genome was completed in 2003, providing a map of the basic chemical elements that make up human DNA.

Researchers use it to identify genes involved in diseases in order to search for better treatments. It has led to the development of cancer therapies and the development of tests to predict the onset of hereditary disorders, such as Huntington’s disease.

The downside is that 70% of the genome comes from a single individual: an American male of both European and African descent.

Karen Miga, of the University of California, Santa Cruz, says this overlooks important genetic differences that play a role in disease in people of other ancestry.

“The map of a single human genome cannot adequately represent all of humanity. This reboot can lay the groundwork for the scientific community to have more equitable medical care in the future,” he said.

While the map of the human genome that researchers are currently using contains a large amount of African DNA, it is contradictory that it is the population that has the least access to medicines, said Ewan Birney, deputy director general of the European Molecular Biology Laboratory (LEBM) . near Cambridge.

“The most important place in the world to obtain genomes is sub-Saharan Africa. It is where we started as a species and has the greatest genetic diversity. Therefore, an African-American genome is not sufficient to represent that diversity.”

best treatments

Zamin Iqbal, a senior researcher at LEBM’s European Institute for Bioinformatics, believes that a more representative genome will lead to better treatments for more people.

“Expanding the number of populations present in the human reference genome will reduce a longstanding implicit bias in human genetics studies. People are diverse and it is important that our analytical methods take this into account.”

Two recent studies in the US, UK and Ireland found that children of European descent are twice as likely to be diagnosed through genetic testing than children of African descent.

Alexander Argüello, program director at the National Human Genome Research Institute, says the aim of the new project was to change those results.

“The hope is that once enough diversity is captured, the same diagnostic results will be obtained regardless of population origin.”

The new pan genome consists of 47 people, half of them from sub-Saharan Africa, one third from the Americas, 13% Chinese and 2% of European descentwith representation of indigenous peoples.

But this is just the beginning of an ambitious program to better represent the diversity of the world’s population.

The original goal is to increase the number to 350.

After that, the scientists leading the largely American program plan to further increase the number and diversity by collaborating with organizations in other countries in what they hope will become phase two of the human genome project.