From 13 Years to 3 Hours, Human Genome Sequencing is Now Faster Than Ever Before

Whole genome sequencing (WGS) has come a long way since the completion of the Human Genome Project in 2003. What once required billions of dolllars and over a decade of work can now be done in just a few hours. Today, this powerful technology is not just a scientific milestone, it's a saving grace for the most vulnerable patients in neonatal intensive care units (NICUs) and Children's Hospitals. 

Traditionally, doctors relied on whole exome sequencing (WES), which examines only the 1-2% of the genome that codes for proteins. Because most known disease causing mutations are found in this small region, WES has been a valuable diagnostic tool for years. However, as the cost of sequencing dropped, whole genome sequencing, which looks at all of a person's DNA, has become increasingly accessible, particularly for critically ill children whose conditions remain undiagnosed after many standard tests. As Yale Medicine notes, "For children whose diseases have not been diagnosed, WGS may offer the opportunity to discover a new genetic cause." 

Both WES and WGS use saliva or blood samples to decode a patient's DNA into a readable sequence of letters representing base pairs. Yet WGS provides a far more complete picture, uncovering genetic variations that uncovers genetic variations in both coding and noncoding regions of the genome. These can include structural changes, copy number variations, and mutations in regulatory areas; which revel the root causes of neurological disorders, metabolic diseases, immune deficiencies, and other rare conditions. In essence, WGS not only identifies what gene may be involved, but also how it might be malfunctioning at a deeper level. 

In October 2025, researchers at Boston Children's Hospital set a new Guinness World Record for the fastest genome sequencing ever performed, coming in at just 3 hours and 57 minutes. Using next generation sequencing technology developed by Roche, called Sequencing by Expansion (SBX), the team sequenced and analyzed the genomes of fifteen children, including several from the hospital's NICU. According to Mark Kokoris, head of SBX Technology at Roche Sequencing Solutions, the system was "engineered for speed, accuracy, and reliability." This breakthrough means families may receive life-altering answers in a single day, and would allow children to recieve more targeted, effective care. 

Reflecting on this achievement, it's remarkable to think how far genetics has come in such a short time. What once seemed like science fiction is now shaping the way we diagnose, understand, and treat disease. For families, like mine once was, waiting anxiously in hospital rooms, faster sequencing doesn't just mean technological progress, it means hope. 

Sources: 

Thompson, Dennis. “World Record Set for Fastest Genome Sequencing.” US News & World Report, HealthDay, 17 Oct. 2025, www.usnews.com/news/health-news/articles/2025-10-17/world-record-set-for-fastest-genome-sequencing.

“Whole Genome Sequencing > Fact Sheets > Yale Medicine.” Yale Medicine , www.yalemedicine.org/conditions/whole-genome-sequencing. Accessed 12 Nov. 2025.