A decade after becoming the first clinic to offer whole genome sequencing, Children’s Mercy Hospital in Kansas City is pioneering the use of a technology that reveals even more of a person’s genome — called five-base, long-read sequencing.
As its name suggests, this method goes beyond showing just the four DNA bases (A,G,C,T). It also reveals how cells read them and if they are used at all.
“So we have about 10,000 rare genetic diseases, and each of those is characterized by a different problem in the genome,” said Dr. Tomi Pastinen, director of the program Genomic Answers for Kids. “A single letter changed among the 6 billion letters in your genome can lead to a devastating disease and early death, even in the worst case scenario.”
Pastinen led the first clinical study of five-base, long-read sequencing, which was published this month in the Journal of the American Medical Association Pediatrics.
With this new technology, clinicians can cut years off the waiting time for a diagnosis and get results in as little as four weeks.
Children’s Mercy is currently the only clinic offering this testing and receives patients from all over the country.
