PARIS: Scientists on Wednesday unveiled the first draft of a human “pangenome”, a more diverse and accurate DNA blueprint for our species that they hope will help shed light on a range of diseases.

The announcement was hailed by researchers as a major scientific milestone that “heralds a new age of genetic diagnosis”.

The first human genome was sequenced in 2003, providing a reference point for all other human sequences to be compared to. The breakthrough allowed scientists to identify genes that cause specific diseases, paved the way for the still growing field of personalised medicine, and shed new light on human evolution.

However, 70 per cent of the genetic data for this original genome reference came from a single person — a man who answered a newspaper advert in Buffalo, New York in 1997 — with snippets from 20 others.

This meant it had many gaps and did not work as well as a reference for people from other ethnicities and races, prompting concerns about bias and inequality.

In a series of papers published in the journal Nature, a large team of international researchers described the first draft of a more inclusive “pangenome” reference that they say more accurately reflects humanity.

The group, called the Human Pangenome Reference Consortium, said they have now compiled the genomes of 47 people from different backgrounds — and plan to increase that number to 350 by the middle of next year.

Published in Dawn, May 11th, 2023