September 19, 2022 -- The Children’s Mercy Kansas City Research Institute on Monday announced an advance in human genome research through a novel genomic sequencing system.
The system uses 5-base genomic sequencing to allow researchers to sequence the full genome and methylome and extract its function. This will allow them to see disease variations that had not been revealed in previous single tests, Children's Mercy said.
"The technology allows us to see into part of the human genome that has never been clinically tested and interpret changes beyond genetic code," Dr. Tomi Pastinen, director at Children's Mercy Kansas City's Genomic Medicine Center, said in a statement.
Dr. Pastinen used the system as part of the Genomic Answers for Kids (GA4K) program at Children's Mercy, a pediatric data repository that collected genomic data for 30,000 children over a period of seven years. Three years into the program's launch, Dr. Pastinen and his team diagnosed 1,000 rare diseases, 300 of which had been detected through 5-base sequencing, Children's Mercy said.
Children's Mercy also said that these analyzed genomes had several rare functional variations unique to each patient, expanding the "genome alphabet" available to study for unsolved rare diseases.
These advancements in genomic sequencing have led other health care organizations and undiagnosed disease clinics to collaborate with Dr. Pastinen and his team, Children's Mercy said. Such organizations include Hassenfeld Children's Hospital and the Center for Human Genetics and Genomics at New York University Langone Health.