RARE Daily

Children’s Mercy Kansas City Forms Rare Disease Collaboration with Pacific Biosciences

October 15, 2020

Rare Daily Staff

Children’s Mercy Kansas City said it has entered into a collaboration with Pacific Biosciences to sequence a statistically significant cohort of rare disease cases for which previous whole-genome and whole-exome sequencing studies yielded no answers.

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 percent 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 data set.

“The diagnosis journey for a child with a rare disease and their families can be long and often inconclusive,” said Gregory Moore, corporate vice president, Microsoft Health. “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.”

Photo: Gregory Moore, corporate vice president, Microsoft Health

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