Twenty years after the first human genome was sequenced, scientists have unveiled the first draft of a human “pangenome”, which is a more diverse and accurate blueprint of our DNA. They hope that this genetic code will shed light on a range of diseases and help the development of personalised medicine.
The team of international researchers, called the Human Pangenome Reference Consortium, published their findings in a series of papers in the journal Nature. The new, more detailed and diverse draft of our genetic code will help deepen the understanding of the role of genetic variation in health and disease. Understanding genetic differences can help craft medicines and treatments that will be more effective for an individual. It could also help better match organ donors with patients as well as improve understanding of disorders such as schizophrenia and autism.
“A pangenome is not just one reference genome, but a whole collection of diverse genomes. By comparing those genomes, we can then build a map of not just one individual, but a whole population of variation,” University of California, Santa Cruz genomicist Benedict Paten, co-leader of the consortium and senior author of the main research paper, told Reuters.
The researchers have compiled the genomes of 47 men and women from different backgrounds, including Africans, Asians and South Americans, and plan to increase this to 350 next year.
The first human genome was sequenced in 2003, which allowed scientists to identify genes that cause specific diseases and shed new light on human evolution. This was done by comparing other genetic code to the sequenced one. However, most of the genetic data for this original reference came from one man from Buffalo in New York with snippets from others, and most of these were of European descent. This meant it was not the best reference for people from other races and ethnicities.
The researchers say the new draft of the pangenome more accurately reflects humanity. “Bottom line: what we're doing is retooling genomics to create a diverse, inclusive representation of human variation as the fundamental reference structure, and so mitigating bias. This is important if we want our research to benefit everyone equally,” Paten said.
The genome is the genetic blueprint of every organism, and is the complete set of DNA containing the instructions it needs to develop, grow, survive and thrive. DNA is more than 99% identical across all human beings, but there are tiny differences. It is these differences that make some people more prone to certain diseases than others.
“Human ancestry is incredibly complex, and we're all related to each other through our common history,” Ira Hall, director of the Yale Center for Genomic Health and one of the research leaders, told Reuters. “By sampling broadly across the genetic tree of humanity, it benefits everybody.”