One Giant Leap for Genomic Diversity

It’s no secret that genetics has a diversity problem. And the issue hasn’t gone unnoticed – in recent years, there have been a number of efforts to sequence genomes from populations other than the largely European, largely Caucasian references we’ve had to date. But diversity isn’t solved in a day and studies that focus on a single alternative population are also not the answer. That’s why researchers from the University of Maryland School of Medicine performed advanced sequencing and mapping on 64 complete human haplotypes representing 25 different populations from around the world (1).

One unique aspect of the study is that each genome was assembled without reference to previous composites – meaning that the genetic differences represented in the haplotypes better represents true human diversity. That applies not only to “normal” variations between genomes, but also to a broader range of disease-causing alterations. “We’ve entered a new era in genomics where whole human genomes can be sequenced with exciting new technologies that provide more substantial and accurate reads of the DNA bases (2),” said author Scott Devine, Associate Professor of Medicine at the University of Maryland and a faculty member at the Institute of Genome Science. “This is allowing researchers to study areas of the genome that previously were not accessible but are relevant to human traits and diseases.”

Take, for instance, cystic fibrosis. Many newborns are screened for the disease at birth – but standard screening panels often miss the less common variants that arise in non-white patients (3). A fuller understanding of the diversity of causative mutations across ethnicities could ensure that more patients are diagnosed at a young age, ensuring earlier – and potentially more effective – treatment.

“[This] landmark new research demonstrates a giant step forward in our understanding of the underpinnings of genetically-driven health conditions (2),” said E. Albert Reece, John Z. and Akiko K. Bowers Distinguished Professor and Dean at the University of Maryland School of Medicine. “This advance will hopefully fuel future studies aimed at understanding the impact of human genome variation on human diseases.”