A team of scientists from around the world has launched a new effort to develop a reference genome that captures the genetic diversity of all people.
The initiative, called the Human Pangenome Project, aims to bring together, organize and make accessible a representation of the entire genetic diversity found in people.
Over the next years, scientists will work to sequence the genomes of 350 people from different populations. Eventually, they want to get to a point where they’ve sequenced thousands of genomes captured as much human genetic diversity as possible, which could allow patients to undergo DNA testing in the future to gain information about their genetic risk for various diseases & conditions.
On a quest to document the genomic diversity of the world
In case you didn’t know, your genome is made up of 3.1 billion DNA molecules in-a-sequence. While all human genomes are fairly similar overall, small differences in sequences play an important role in determining what makes each of us unique, and this can include susceptibility for disease.
A reference genome helps describe these variations by mapping the location of genes and other genomic elements, meaning scientists can use it to discover new genes, variations on existing genes, and other functional elements. It can also be used to communicate & compare results with other scientists, which is what makes it so important.
However, most studies of the human genome have been based on samples from people of European descent, which complicates matters.
For example, a few weeks ago, a team of scientists announced that they were able to decode the last 8% of a reference genome, which is a complete map of the human genome. However, this reference genome is based on 20 individuals, with most of the sequence coming from a single individual, so it doesn’t reflect the wonderful diversity of the world’s population.
While the human reference genome is the most widely used resource in human genetics, researchers believe a major update is due.
Mapping a complete genome, error-free, from end to end
“We don’t want to have one (single) reference, we want to have many references that capture human diversity,” Evan Eichler, a professor of genomic sciences at the University of Washington School of Medicine in Seattle & a co-author of the paper, said. The Human Pangenome Project will attempt to overcome this hurdle by seeking the approval of groups that may-be wary of efforts by Western scientists to sequence their population’s DNA & create numerous complete reference genomes which represents hundreds of people from around the world.
Some groups have rejected the proposal, while others have expressed interest. However, they have stated that they do their own genome sequencing and intend to make the data available as they see-fit. The project is currently trying-to-provide these communities with the necessary technology to do this research.
Over the next 5 years, researchers will use a painstaking process known as “long-read” sequencing to map an entire genome from end-to-end with no errors.
This is just a first step with many obstacles along the way. However, the meticulous efforts of scientists could one day make it possible for anyone in the world to walk into a doctor’s office and have a DNA sample collected & sequenced to see their genetic risk for cardiovascular disease. Diseases, diabetes and other conditions that bring us closer to the future of human genetics.
The paper was published on April 20 in the journal Nature.
