According to the hospital, the new 5-base HiFi sequencing will accelerate the diagnoses of suspected genetic disease for critically ill patients.
The technology can capture all known mechanisms of genetic disease in a single sequencing test, which has not been possible before. As a result, patients no longer have to return to hospital for repeated tests, and test results are be available in just under 2 weeks.
The organization has used the 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 the past year.
The next goal for Children's Mercy 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 a short test result turnaround time of less than two weeks.
In addition, the hospital hopes to encourage other medical providers to replace legacy genetic testing and adopt long read whole genome sequencing as a standard of care.
To provide evidence for this, the organization will conduct a clinical launch evaluating hundreds of successive critically ill children for genetic disease to reach a robust sample size.
Tomi Pastinen, director of the Genomic Medicine Center, Children’s Mercy, said: “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. 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.”
“In our research we have been able to end many diagnostic ‘odysseys’ for families with the unique capabilities of 5-base HiFi genomic sequencing. It is exciting to see the impact and dissemination of the technology in clinical care of children with rare disease.”
Paul Kempinski, CEO and president of Children’s Mercy, added: “Children’s Mercy is dedicated exclusively to advancing the health and well-being of all children, and GA4K laid the foundation making it possible to seamlessly integrate this technology into our world-class clinical care. The research, innovation and investment we’ve made will transform the lives of our patients and families providing answers and hope quickly for even the rarest diseases.”