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Children’s Mercy First to Use New Genomic Sequencing Technology

Children's Mercy is introducing a new genome sequencing system in its clinical setting.

Posted October 18, 2023

Children’s Mercy Kansas City has announced it has become the first health system to use an advanced genome sequencing system with the addition of 5-base HiFi sequencing.

The cutting-edge technology replaces rapid exome, chromosomal microarray analysis and other conventional diagnostic testing as a first-line expedited assessment for the most critically ill patients in the hospital with a strong suspicion of genetic disease, according to a release by Children’s Mercy.

“The evidence we have generated supports the clinical adoption of 5-base HiFi sequencing and we have demonstrated the utility over other conventional testing modalities,” director of the Genomic Medicine Center, Dr. Tomi Pastinen said. “We have been able to consolidate tests, increase efficiency and improve diagnostic yields together with accelerating the turnaround in testing – results that can take months with multiple legacy tests can now be achieved in two weeks with HiFi sequencing.”

Children’s Mercy partnered with PacBio, a leading provider of high-quality, to develop the new system for 5-base HiFi sequencing.

The next goal for the hospital is to demonstrate the utility of clinical HiFi whole-genome sequencing over conventional testing modalities, achieve an incremental diagnostic yield of 5 to 10 percent, and ensure a short test result turnaround time of less than two weeks.

View the full release, here.