Unlocking Answers Faster: Children's Mercy Revolutionizes Genetic Disease Diagnosis with a Single-Test

KANSAS CITY, Mo., Sept. 22, 2025 /PRNewswire/ -- Children's Mercy, one of the nation's top independent pediatric health systems, is once again leading the way in genomic medicine. In a landmark study, published in the prestigious Journal of the American Medical Association Pediatrics, Children's Mercy researchers have demonstrated that a single, advanced long-read sequencing (LRS) test can dramatically improve the speed and accuracy of diagnosing rare genetic conditions in children.

Children's Mercy was the first to use 5-base HiFi LRS, the world's most-advanced genomic sequencing system, in the clinical setting to accelerate diagnosis for even more patients and families.

"Children's Mercy is a trailblazer in every sense of the word—we're not just advancing medicine, we're reshaping it," said Ale Quiroga, MD, MBA, President and CEO, Children's Mercy. "This research isn't simply a breakthrough; it's a blueprint for what pediatric care can and should be. By deepening diagnostic precision and elevating the care experience for families, we're equipping our clinicians with sharper tools, faster answers and greater insight. And we're doing it for the children who need us most."

The study compared 235 children who received the new LRS test to more than 500 children who underwent traditional genetic testing. The results were striking:

• Higher diagnostic success: LRS identified the cause of a child's condition significantly more often than standard testing increasing the diagnostic rate by 10% over all previous tests combined.
• Faster answers: On average, families received a diagnosis in less than a month—compared to the traditional methods, which took about 91 days on average.
• Fewer tests, less stress: LRS often replaced the need for multiple rounds of testing, reducing the emotional and financial burden on families.

"Every day matters when a child is sick and undiagnosed, and this research shows that we can deliver answers faster, with fewer tests and with greater clarity than ever before," said Tomi Pastinen, MD, PhD, Vice President, Associate Chief Medical Officer for Clinical and Research Integration, Children's Mercy, and corresponding author of the study. "Children's Mercy is not just doing research—we're integrating research with clinical care—we're raising standards and transforming pediatric medicine." 

The benefits of clinical LRS identified in the study are likely only the beginnings of what may be uncovered through expanded testing and further understanding of noncoding regions.

"What we've uncovered so far is powerful—but what's ahead is even more promising," said Isabelle Thiffault, MSc, PhD, FACMGG, Director of Translational Genomics, Children's Mercy, and first author of the study. "As we continue to explore the noncoding regions of the genome and expand access to this technology, we're opening doors to diagnoses that were once out of reach. This is how we change the future of pediatric medicine—by building a foundation for discoveries that will help generations of children to come."

Children's Mercy is leading the way in rare disease discovery with the use of LRS in its nationally recognized Genomic Answers for Kids (GA4K) program, a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions.

In just four years, GA4K has delivered more than 2,100 diagnoses—offering answers to families who have long searched for them. The program is fueled by the generosity of donors and the dedication of researchers, clinicians and families who believe in a future where no child's condition goes undiagnosed.

About Children's Mercy Kansas City

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 wellbeing 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. U.S. News & World Report has repeatedly ranked Children's Mercy as one of "America's Best Children's Hospitals." Children's Mercy is also one of only two pediatric hospitals in the U.S. to achieve Magnet nursing designation six consecutive times for excellence in nursing. More than 800 pediatric specialists, researchers and faculty are actively involved in clinical care, pediatric research and education of the next generation of pediatric specialists. 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, Bluesky, Instagram and YouTube for the latest news and videos. 

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SOURCE Children’s Mercy