Scientists hail creation of the first pangenome
It’s the largest human genetic ‘blueprint’ ever
eXPertS have hailed a ‘huge step forward’ in genetic research following the creation of the world’s first pangenome.
A team of international researchers have published an enormous database which combines the genetic material of dozens of people, making it the most comprehensive genetic blueprint of humans to date.
the ‘ incredible scientific achievement’ will pave the way for new insights into genetic disease, cancer and ageing.
And it could lead to a future whereby doctors may be able to use an individual’s genetic make-up to tailor their medical care.
Back in 2013, biologists created the first ever human genome sequence, consisting of three billion letters in our DnA, using genetic material which mostly came from one person.
But while all humans are 99 per cent identical in their genetic make-up, there are small differences which contribute to each person’s uniqueness.
now, by combining the genomes of 47 people, scientists have greatly expanded their knowledge of genetic variations that can occur.
While some genetic variations are harmless – such as blood group or eye colour – other variations can lead to disorders such as cystic fibrosis or huntington’s disease. experts said the development already means genetic variations can be detected with 34 per cent more accuracy, while the known number of large, difficultto-detect variations has doubled.
For example, they can learn more about coronary heart disease and cardiovascular disease. And the USbased team believe the blueprint could also help towards explaining why some children have autism.
the researchers, led by a group called the human Pangenome reference Consortium, hope to increase the number of genome sequences included in the pangenome to 350 by the middle of 2023.
the total cost of supporting the project is expected to be more than £30 million over five years.
Dr eric Green, director of the national human Genome research Institute, in Maryland, who funded the work, said: ‘this pangenome reference represents an incredible scientific achievement, providing an expanding view of humanity’s DnA blueprint with a significantly greater human diversity than previous reference sequences. he said the ‘ holy grail’ that their work will provide was the ability to make a difference in individual lives, and for families ‘who suffer a lot from unknowns with respect to their kids’ disabilities’.
Commenting on the milestone, Professor David Adelson, at the University of Adelaide, said: ‘ Why is a pangenome so exciting? It includes all the differences between the genomes of the individuals that have been sequenced.
‘All you have to do is look around you to see how different people are. these differences reflect differences in our genomes.
‘Up until now we have used a single genome sequence as a reference for the detection of genetic changes that cause disease. that reference did not include differences between people or populations.
‘With the pangenome we can now look for genetic changes across many individuals and ultimately the pangenome will grow to include information from thousands and perhaps millions of genome sequences.
‘ this means our ability to use genetic information for diagnosis will increase enormously.’
Professor Adelson added: ‘ this paper heralds a new age of genetic diagnosis, that will benefit people from all ancestries, unlike our current reference genome that does not reflect all the diversity of humanity.’
the research was published in the journal nature.
‘This will make a difference to all’