Children's Mercy Kansas City announced it is the first health care system to use 5-base HiFi sequencing, from PacBio, in the clinical setting to accelerate diagnoses for even more patients and families. The cutting-edge technology replaces rapid exome, chromosomal microarray analysis and other conventional diagnostic testing as a first line expediated assessment for the most-critically ill patients in the hospital with a strong suspicion of genetic disease. The Children's Mercy Research Institute (CMRI) has used 5-base HiFi sequencing in its Genomic Answers for Kids (GA4K) donor-accelerated research program, a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments of pediatric genetic conditions, for nearly two years.

Developed by PacBio, a leading provider of high-quality, highly accurate sequencing solutions, and pioneered by the CMRI, Dr. Pastinen and his team have successfully sequenced 1,500 human genomes using 5-base HiFi sequencing - capturing all known mechanisms of genetic disease in a single sequencing test, which has not been possible before. The next goal is to demonstrate the utility of clinical HiFi whole-genome sequencing over conventional testing modalities, achieve an incremental diagnostic yield of 5 to 10%, and ensure a short test result turnaround time of less than two weeks. Children's Mercy seeks to encourage medical providers to consolidate legacy testing modalities onto a "HiFi backbone" and will conduct a clinical launch that will comprise of hundreds of successive critically ill children evaluated for genetic disease to reach a robust sample size.