How a Pediatric Hospital's Rare Disease Sequencing System Unlocks the Entire Genome - MedCity News

How a Pediatric Hospital’s Rare Disease Sequencing System Unlocks the Entire Genome – MedCity News

The Kansas City Children’s Mercy The Research Institute announced on Monday that it is being built what he calls the “world’s most advanced genomic sequencing system”.

This statement refers to the work that Children’s Mercy does through its Genomic Answers for Kids Program (GA4K). The health system launched the program three years ago with the aim of collecting genomic data and health information from 30,000 children and their families – it plans to create a database of at least 100,000 genomes over seven years. GA4K is already reaching an important milestone: providing 1,000 children with rare disease diagnostics based on the sequencing of its genome.

The program is unique because it uses 5 base genomic sequencing. It’s a new technology that combines several genomic technologies that have been used before into a single test, Dr. Tomi Pastinen, director of the Center for Genomic Medicine at Children’s Mercy Kansas City, said in an interview.

“What 5-base genomic sequencing allows us to do immediately in the clinical space is to replace multiple, usually successive, genetic tests that are performed on a patient into a single combined test and speeds up the analysis of several different types of genetic diseases,” he said.

Beyond the ability to diagnose all types of genetic diseases, 5-base genomic sequencing opens up our ability to “read the genome beyond the currently interpreted clinical genome,” Dr. Pastinen added.

Genomic sequencing tests currently only interpret the protein-coding portion of the genome, which Dr. Pastinen says is only about 2% of the human genome. The use of 5-base genomic sequencing reveals the 98% of the genome that is currently not clinically analyzed. This is important because 60% of cases involving children in which doctors suspect a genetic disorder remain unsolved with current genetic testing methods, Dr. Pastinen said.

On average, about 30 to 40 percent of rare pediatric disease cases are diagnosed, according to Dr. Pastinen. He said 5-base sequencing can help bring that percentage 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 breadth, and the second is its comprehensiveness. While there have been pediatric rare disease studies that focus on specific indications, this program collects data from as many pediatric patients as possible who have been evaluated for unresolved disease, said Dr. Pastinen.

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

“The program is unique because of the depth of data per patient — and because it’s dynamic,” Dr. Pasinen said. “And what that means is that we’re actually interrogating the genome throughout the patient’s lifetime. The patient and his medical file live with us. If there are any changes in the medical record 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 medical scientists.

The 5-base sequencing used in GA4K extends previous work conducted by pediatric hospitals to better understand rare diseases in children. For example, the San Diego-based Rady Children’s Institute for Genomic Medicine has also been a pioneer in the field, with a strong precision medicine program that deploys rapid genomic sequencing to quickly and accurately diagnose patients earlier. possible. This program was championed by Dr. Stephen Kingsmore, who served as Director of the Center for Pediatric Genomic Medicine at Children’s Mercy from 2011 to 2015.

Photo: Andy, Getty Images

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