New Genetic Research Provides Most Significant Advance To Date in Genomic Reference Resources for Precision Medicine

Recent advance in genetics uses the full human genome sequencing of 64 individuals to open the door for advances in precision medicine

In a great leap forward for precision medicine technology, a recent study has created a new and comprehensive reference of the human genome. To understand this development is to recall that the entire human genome was only mapped by the Human Genome Project (HGP) in 2003. That extensive project did not actually establish a map of the genome of a single human but used pieces of many different genomes. 

While the HGP did provide scientists with an understanding of how the human genome is laid out, it did not provide useful information about the genetics of a specific individual or provide useful information about how genes varied between individuals. Much of the research since that initial mapping of the human genome has been revision of the initial map but has not included complete sequencing of new genomes.

Now Genome Sequencing Has Become Person-Specific Focused

A recent, groundbreaking study from an international group of researchers reports that the genomes of 64 distinct individuals from 25 different people groups have been sequenced. The genomic reference resources that this project has provided is a new first in genetic research. According to the researchers, it will enhance the field of precision medicine in the decades to come.

Until now, genetic research has been based on a generalized map of the human genome that was not population specific, or even specific to one individual. By providing clinicians and researchers with numerous full genomic sequences from many different people groups, this new research enables future genetic research that is specific to a patient’s unique population.

Co-first author Peter Ebert, PhD (above, left), a bioinformatics software engineer at Heinrich Heine University in Germany, along with Scott Devine, PhD (middle) and E. Albert Reece, MD, PhD, MBA (right), both of the University of Maryland, are among the researchers involved in sequencing the human genome to more substantial reads of the DNA bases.

“With these new reference data, genetic differences can be studied with unprecedented accuracy against the background of global genetic variation, which facilitates the biomedical evaluation of genetic variants carried by an individual,” said co-first author, Peter Ebert, PhD, a bioinformatics software engineer at the Institute for Medical Biometry and Bioinformatics at Heinrich Heine University located in Düsseldorf, Germany.

Implications for Field of Precision Medicine

One of the distinctions of this development is the use of long-read structural variation mapping approaches, rather than short-read technology, states the related article published in Science in April 2021.

This breaking research has tremendous implications for the field of precious medicine. Precision medicine centers around the concept of genetic differences between individuals creating a unique disease course and response to medical treatment.

Most precision medicine research is focused on individual genes or sets of genes, not on the broader human genome. By sequencing the full genome of not just one individual, but of multiple different individuals from many distinct people groups, the ability to individualize genomic data on a large scale has significantly increased. 

“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,” said study co-author Scott Devine, PhD, Associate Professor of Medicine at University of Maryland School of Medicine. “This is allowing researchers to study areas of the genome that previously were not accessible but are relevant to human traits and diseases.”

Understanding the Underpinnings of Genetically Driven Health Conditions

“The landmark new research demonstrates a giant step forward in our understanding of the underpinnings of genetically-driven health conditions,” said E. Albert Reece, MD, PhD, MBA, Executive Vice President for Medical Affairs, UM Baltimore, and the John Z. and Akiko K. Bowers Distinguished Professor and Dean, 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.”

Precision medicine relies heavily on genetic data. Now, with the full genome of multiple individuals available to researchers, precision medicine advances will be more easily developed and validated. Entities that are involved in providing or developing precision medicine advances will benefit from this new research and the benefits that it provides.      

Caleb Williams 

Related Information:

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

UM School of Medicine Researchers Participate in Landmark Study Detailing Sequencing of Full Human Genomes to Better Capture Genetic Diversity

64 Human Genomes Sequenced as a New Reference for Genetic Variation

Scientists Sequence 64 Human Genomes as New Reference for Genetic Diversity

Peter Ebert, PhD

E. Albert Reece, MD, PhD, MBA

Scott Devine, PhD