Mapping the "Human Pangenome"

Remember the Human Genome Project? It was a moment of incredible fanfare when scientists announced in 2003 that they had finished mapping the first human genome – the DNA blueprint of human life.

The problem: It wasn’t complete.

Researchers weren’t able to put together all the genetic information in the genome. There were gaps, including repetitive regions that were too confusing to piece together. Technological advances have allowed scientists to figure out the repetitive regions. On March 31st of this year, the Human Genome Project published the first definitive, end-to-end human genome.

Sort of.

This is how Scientific American explains it: “Scientists in the Telomere-to-Telomere (T2T) consortium have now reported the first truly complete sequence of a human genome, nearly two decades after the Human Genome Project produced the first (essentially complete) human genome sequence. People may wonder how it is that scientists are claiming to complete the human genome sequence again. Wasn’t that already done? Well, yes and no.”

What researchers announced this past March, was a complete 3-billion base pair sequence of a human genome. It fills in gaps that could not be mapped in 2003 and provides more insight into the genome. For example, researchers found more than 100 new genes that may be functional and identified millions of genetic variations between people, which may play a role in diseases.

This has renewed excitement among scientists who are eager to explore a new, complete map. However, this map does not reflect the variety of humankind. That’s why other researchers are working to develop what’s being called a “human pangenome” that reflects the broad spectrum of human genetic variation.

Though the Human Genome Project was meant to become a reference point for future genetic research, its utility was compromised by the fact that 93% of its sequence came from just 11 people, many of whom responded to a newspaper ad in Buffalo, New York. In fact, 70% of the DNA came from just one man.

The shortcomings are significant because the original reference genome lacks variants associated with all sorts of diseases and conditions.

Now, pangenome researchers are trying to build a more complete and representative genome sequence that captures most – if not all – human genetic variability. No small feat.

We applaud the work of scientists who just completed the human genome map. Their efforts will give researchers incredible, useful insight into human DNA. That means the genome’s completion means the start of scientific advances. However, we also recognize that current genome research can only take science so far, which is why the pangenome work is so important.

We look forward to the breakthroughs that result from both this first complete human genome and those we can expect in the future.