The PacBio team recently attended the AGBT (Advances in Genome Biology and Technology) Precision Health conference in San Diego, Calif. This was the seventh year of the conference, and it included discussions on several new methodologies and approaches as well as presentations of ongoing projects in the precision health space. The major topics covered included broad perspectives in genomic medicine, prenatal diagnostics, barriers to whole genome sequencing (WGS) in precision health, rare disease and public health initiatives, advances in genome biology, and national initiatives in genomic medicine.
One of the most exciting highlights of the conference came from Niall Lennon, PhD of Broad Institute of MIT and Harvard in his talk, “Taking the Long View: Driving Discovery and Advancing Genomic Medicine with New Data Types in All of Us.” In presenting the All of Us research program (AoU), Dr. Lennon discussed the organization’s ongoing effort to complement the current AoU dataset with 10,000 HiFi genomes in order to add important genetic context through the capture of structural variants (SVs), short tandem repeats (STRs), and variable number tandem repeats (VNTRs). By implementing HiFi sequencing, Broad and AoU will be able to add a wealth of new and diverse variants across many ancestries. This enriched dataset will further fuel discoveries in the drive towards precision health.
Another national program that shared exciting updates was Genomics England. Richard Scott, PhD presented the “The UK Newborn Genomes Program,” a collaboration between Genomics England and the UK’s National Health Service (NHS). Dr. Scott and his team are currently evaluating WGS for newborns, allowing the NHS to make decisions for future care pathways. They are co-designing a study to launch in a year that would sequence 100,000 newborns throughout the UK and focus on a subset of key genes related to pediatric onset diseases.
Another intriguing set of ideas was shared by Ron Wapner, MD of Columbia University Irving Medical Center in his presentation, “Fetal Sequencing of Congenital Anomalies: The Need for Clinical Laboratory Collaboration.” He pointed out that compared to Down’s syndrome, currently the most tested for condition, structural congenital anomalies are far more prevalent and are typically found via ultrasound and invasive tests. While much of the focus in recent years has been on newborn screening, he proposes these anomalies could be analyzed prenatally using WGS, removing the risks that come with invasive testing and the time-to-diagnosis that is lost by waiting until a child is born to begin assessments.
The conference presentations offered an opportunity to see where precision health is headed and how technologies like PacBio HiFi reads are helping to make possible discoveries that couldn’t have been imagined a few years ago. The PacBio team is proud to be part of these amazing programs and invites you to learn more about highly accurate long-read sequencing and its role in human genomics research and precision health.