The Children's Mercy Kansas City Research Institute Pioneers Most-Advanced Genomic Sequencing System in the World

KANSAS CITY, Mo., Sept. 19, 2022 /PRNewswire/ -- The Children's Mercy Kansas City Research Institute announced it has pioneered advances in the human genome using 5-base genomic sequencing that transforms diagnosing and understanding of unsolved pediatric disease. For the first time, researchers are now able to both sequence the full genome and methylome and extract its function to see disease variations never seen before in a single test, accelerating answers for kids with rare diseases across the globe.

"This is a major shift in contemporary clinical gene testing by next-generation sequencing, which continues to rely on the genetic code that was first described in 1961. The technology allows us to see into part of the human genome that has never been clinically tested and interpret changes beyond genetic code," said Tomi Pastinen, MD, PhD., Director, Genomic Medicine Center, Children's Mercy Kansas City. "On average, only 30-40% of rare disease cases are diagnosed. What we are doing is giving those remaining 60% of families hope that we'll find answers by discovering relevant gene variations in long-read sequencing only detectable by using this technology."

Thanks to $18.5 million in philanthropic funding, Dr. Pastinen started the Genomic Answers for Kids (GA4K) program at Children's Mercy, a first-of-its-kind pediatric data repository. The goal is to collect genomic data and health information for 30,000 children and their families over seven years to create a database of 100,000 genomes.

Just three years after launching the program, GA4K has already hit a major milestone providing 1,000 rare disease diagnoses to families, far out-pacing other rare disease diagnostic programs. Of those, Dr. Pastinen and his team successfully sequenced nearly 300 genome samples using the cutting-edge 5-base sequencing, which captures all genomic variants in a single test allowing for one-stop assessment of patient DNA instead of sequential testing by multiple clinical tests and laboratories.

"What once was a previously undiagnosed disease-causing mutation in a rare disease case is now discoverable because of full 5-base genome sequencing," noted Dr. Pastinen.

In addition, each analyzed genome harbored a number of rare functional variations unique to each patient expanding the "genome alphabet" available to study for unsolved rare disease. This data has been recently published and is available for preprint.

"Children's Mercy is once again moving the goalpost and pushing the envelope for what is possible for discovery through advanced genetic sequencing," said Tom Curran, PhD, FRS, Senior Vice President, Executive Director and Chief Scientific Officer. "We are years ahead in this space and have been driven by the realization that clinical sequencing as it was being done today was not sufficient, so we set out to advance the science in hopes of moving kids to the forefront of research discoveries much sooner."

Because of the advancements Children's Mercy has made in Genomics, other health care organizations and undiagnosed disease clinics across the country are collaborating with Dr. Pastinen and his team to solve difficult cases through long-read data and 5-base sequencing.  

"It is a major challenge to understand why many children with genetic conditions remain undiagnosed despite all the advances so far in genetics and genomics. Hassenfeld Children's Hospital at NYU Langone's collaboration with Children's Mercy allows us to use the latest long-read sequencing technologies to help families find answers," says Gilad D. Evrony, MD, PhD, from Hassenfeld Children's Hospital and the Center for Human Genetics and Genomics at NYU Langone Health.

This new advancement in technology and genome science allows Dr. Pastinen and his team to reach optimal results in a single test giving families hope everywhere.

"Patients and families living with rare disorders often wait decades to find an accurate diagnosis. Many of us enduring a heart-breaking journey despite current genetic testing options," said Kelly Ranallo, Founder, RareKC. "The hope that 5-base sequencing offers our families is truly transformative to children not only here in the Kansas City region but across the globe. We are incredibly grateful to Children's Mercy, our philanthropic community and the unwavering commitment to push the boundaries to ensure every child and family has a future of hope."

To review the study pre-print, visit: Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Founded in 1897, Children's Mercy is a leading independent children's health organization dedicated to holistic care, translational research, educating caregivers and breakthrough innovation to create a world of well-being for all children. With not-for-profit hospitals in Missouri and Kansas, and numerous specialty clinics in both states, Children's Mercy provides the highest level of care for children from birth through the age of 21. U.S. News & World Report has repeatedly ranked Children's Mercy as one of "America's Best Children's Hospitals." For the fifth consecutive time in a row, Children's Mercy has achieved Magnet nursing designation, awarded to only about 8% of all hospitals nationally, for excellence in quality care. More than 850 pediatric subspecialists, researchers and faculty across more than 40 subspecialties are actively involved in clinical care, pediatric research and education of the next generation of pediatric subspecialists. Thanks to generous philanthropic and volunteer support, Children's Mercy provides hope, comfort and the prospect of brighter tomorrows to every child who passes through its doors. Visit Children's Mercy and the Children's Mercy Research Institute to learn more, and follow us on Facebook, LinkedIn, Twitter, Instagram and YouTube for the latest news and videos. 

SOURCE Children's Mercy