Children’s Mercy Kansas City Teams Up with Pacific Biosciences to Fight Rare Disease

Children’s Mercy Kansas City, one of the nation’s top pediatric medical systems, and Pacific Biosciences of California, Inc. (Nasdaq:PACB), a leading provider of high-quality sequencing of genomes, transcriptomes and epigenomes, today announced a collaboration designed to further understand the most challenging pediatric diseases. The organizations will team up to sequence a statistically significant cohort of rare disease cases for which previous whole-genome and whole-exome sequencing studies yielded no answers.

“Children’s Mercy leads with a vision that excellence in pediatric translational research will lead to improved care for sick children,” said Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children’s Mercy. “We are delighted to be collaborating with the innovative scientists at PacBio as we bring their long-read sequencing data to bear on some of our most difficult cases of rare pediatric disease to give patients and families the answers they deserve.”

It is estimated that as many as 25 million Americans — approximately 1 in 13 people — are affected by a rare, and often undiagnosed condition. In rare disease studies, conventional techniques for whole-genome and whole-exome analysis based on short-read sequencing typically lead to identification of a causal variant in less than 50% of cases. Utilizing PacBio’s Single Molecule, Real-Time (SMRT^®) Sequencing technology to generate highly accurate long reads, known as HiFi reads, clinical researchers have demonstrated that they can detect disease-causing structural and small variants missed by short-read sequencing platforms. This new study is designed to evaluate the rate at which HiFi sequencing identifies overlooked causal variation.

The Children’s Mercy Research Institute at Children’s Mercy has launched Genomic Answers for Kids (GA4K), a first-of-its-kind clinical data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. The goal is to collect genomic data and health information for 30,000 children and their families over the next seven years, ultimately creating a database of nearly 100,000 genomes. Children’s Mercy has recently invested in Sequel II Systems to incorporate HiFi sequencing into this effort. As part of the new collaboration, scientists will evaluate the ability of HiFi data to reproduce all variants previously detected by short-read methods and to identify novel variants that could explain disease phenotypes.

Children’s Mercy and PacBio will be working with the Microsoft Genomics team to build Microsoft Azure cloud-based analysis solutions and a data repository for this unique dataset.

“The diagnosis journey for a child with a rare disease and their families can be long and often inconclusive. We believe the advancement of precision medicine with specialized technologies will be key to gaining a better understanding and early diagnosis of these debilitating and deadly diseases,” said Gregory Moore MD, PhD, corporate vice president, Microsoft Health. “We are pleased to be working with the Children’s Mercy and PacBio teams to bring the power of our trusted cloud and AI technologies to have a transformative impact on the lives of these children.”

Christian Henry, Chief Executive Officer of Pacific Biosciences, commented: "PacBio is proud to partner with Children's Mercy to develop advanced genome sequencing and analysis methods for children with rare diseases — with the ultimate goal of improving diagnostic yields. Our HiFi sequencing technology is unique in its ability to provide genetic insights for phenotypes of interest, previously undetectable by short-read sequencing methods. We look forward to making a meaningful impact by increasing solve rates through this important partnership.”

More information about how Children’s Mercy scientists are using HiFi sequencing will be presented in PacBio’s ancillary workshop Monday, October 26 from 1:00-2:00 pm ET during the American Society of Human Genetics (ASHG) Annual Meeting. Emily Farrow, PhD, CGC, Director of Laboratory Operations at the Genomic Medicine Center at Children’s Mercy, will give a talk entitled “Applications of Third Generation Sequencing in Unsolved Disease.” Free virtual event registration is available here.