How Children’s Hospital’s Rare Disease Sequencing System Unlocks the Entire Genome

The Children’s Mercy Kansas City The Research Institute announced on Monday that It builds What it calls “the world’s most advanced genetic sequencing system”.

This claim refers to the work that Mercy for Children is doing through it Genomic Answers Program for Kids (GA4K). The health system launched the program three years ago with the aim of collecting genetic data and health information for 30,000 children and their families – and expects to create a database of at least 100,000 genomes over seven years. GA4K already has an important breakthrough: providing 1,000 children with diagnoses of rare diseases based on their genome sequences.

The program is unique because it uses 5-base genetic sequence. This is a new technology that combines several genomic techniques that have been used before in one test, Dr.

“What 5-base genomic sequencing allows us to do right away in the clinical space is to replace the multiple, back-to-back genetic tests that are performed on a patient into one common test and speed up the process of analyzing different types of genetic diseases,” he said.

In addition to being able to diagnose all types of genetic diseases, 5-base genetic sequencing unlocks our ability to “read genomes beyond the currently interpreted clinical genomes,” Dr. Bastenin added.

Genomic sequencing tests currently only explain the protein-coding part of the genome, which Dr. Bastenin claimed makes up only about 2% of the human genome. The use of 5-base genomic sequencing reveals 98% of the genome that is currently not clinically analyzed. This is significant because 60% of cases involving children in which doctors suspect a genetic disease remain unresolved using current genetic testing methods, Bastinin said.

On average, about 30-40% of rare disease cases are diagnosed in children, according to Dr. Bastenin. He said the 5-base sequence could help that percentage get closer to half.

Dr. Pastinen claimed that the database being built for GA4K is the first of its kind for several reasons. The first is its scale, the second is its comprehensiveness. While there have been studies of rare pediatric diseases that focus on specific indications, this program collects data from as many pediatric patients as possible who have been evaluated for unresolved disease, Dr. Bastenin said.

This data comes from pediatric Mercy patients, as well as patients at 17 partner institutions involved in GA4K, two of which include NYU Langone Health and University of Nebraska Medical Center, Dr. Bastenin said. These partners send genome samples from their patients for testing at Children’s Mercy.

“The program is unique because of the depth of data for each patient – ​​and because it is dynamic,” said Dr. Pasinen. “And what that means is that we actually question the genome over the course of a patient’s life. The patient lives with us and their medical records. If there are changes in the medical history or changes in our understanding of the genome, we update the analysis in real time and share the data in real time with the scientific community. and physician scientists.

The 5-base sequencing used in GA4K expands on previous work by children’s hospitals to better understand rare diseases in children. For example, based in San Diego satisfied kids The Institute of Genomic Medicine has also been a pioneer in the field, with a robust precision medicine program that publishes rapid genetic sequencing to quickly and accurately diagnose patients as soon as possible. This program is supported by Dr. Stephen Kingsmorewho served as director of the Children’s Mercy Center for Pediatric Genomic Medicine from 2011-2015.

Photo: Andy, Getty Images

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