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Children’s Mercy is Home to the World’s Most Advanced System for Rare Disease Diagnosis

Genomic Answers for Kids reaches diagnosis milestone and continues to propel rare disease research


Children’s Mercy is Home to the World’s Most Advanced System for Rare Disease Diagnosis

Genomic Answers for Kids reaches diagnosis milestone and continues to propel rare disease research

Headshot of Tomi Pastinen, MD, PhD
Tomi Pastinen, MD, PhD
Dee Lyons/Missouri Endowed Chair in Pediatric Genomic Medicine; Director, Center for Pediatric Genomic Medicine; Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Research Professor of Cancer Biology, University of Kansas School of Medicine
Full Biography

The cause of thousands of pediatric genetic diseases remains undiscovered, presenting challenges for families in need of answers to their child’s condition and for clinicians and researchers working to find new therapies and innovative treatment approaches for them.

The Children’s Mercy Research Institute (CMRI) rose to this challenge when it initiated an innovative and potentially life-changing program for children and their families who are living with genetic conditions. Launched in 2019, Genomic Answers for Kids (GA4K) is the first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for these conditions. Led by Tomi Pastinen, MD, PhD, director of CMRI’s Genomic Medicine Center, GA4K aims to collect genomic data and health information for 30,000 children and their families over the next seven years, creating a database of nearly 100,000 genomes.

Just three years into the program, Dr. Pastinen and his team are on course to change the landscape of pediatric genomics through what may be the most advanced system for rare disease diagnosis in the world. The team has surpassed 1,000 rare diagnoses through their groundbreaking work—far out-pacing other rare disease research programs—and have enrolled more than 10,000 participants to date into GA4K.

We are the first to have built several hundred genomes from scratch for patients.

Tomi Pastinen, MD, PhD
Director, Genomic Medicine Center

Dr. Pastinen and his team also continue to conduct cutting-edge science that has led to a number of “firsts” in the field of genomics research. Specifically, the GA4K team has produced more than 1,000 genomes through a state-of-the-art technique called HiFi sequencing – 10 times more than reported to date. HiFi sequencing sees more of the human genome as compared to previous clinical and research sequencing and can reveal disease causing changes in blind spots of earlier technologies.

The team is also the first to use 5-base sequencing in their genomic analyses, which to date is nearing 300 genome samples, highlighting the significant health impacts due to the ability to detect rare-causing gene variants in a single test. Currently most clinical testing only evaluates 2% of the genome, new methods used by GA4k greatly expand this. Using cutting-edge technology, Dr. Pastinen and the GA4K team are now both able to sequence the full genome and interpret its function, accelerating answers for kids with rare disease across the globe.

In addition, Dr. Pastinen and his team are the first to apply what is called “human assembly” to their rare disease genomics work. Most genomics programs in the world use the human genome that was developed in 2014 to compare and analyze any genome that is sequenced, a process that unfortunately misses approximately 10% of the DNA in all people. Capturing this missing DNA requires building the genome from scratch.

“We are the first to have built several hundred genomes from scratch for patients,” says Dr. Pastinen. “This innovative process allows us to see the missing part of a genome that is systematically left unanalyzed and similar to HiFi sequencing opens doors to finding remaining genetic diagnoses missed earlier in complex regions of the human genome.”

Taken together, the impact of the GA4K program to date is rapidly allowing for the discovery of pediatric genetic disease causes and providing investigators throughout the world with a wealth of knowledge to pursue new therapies for children affected by these rare conditions.

And the potential impact on affected children and families is immeasurable.

“It is still difficult after discovering a genetic cause for what is happening with my children, but there’s a big relief of just knowing,” says Dawn Graczyk, who has six children and four of them living with rare diseases. “I think my biggest hope for GA4K is that it can impact so many people and I have personally watched it go from a small initiative to a huge program. I see great potential for GA4K to connect families, connect researchers, and fight for advocacy to tap into the great potential to improve the lives of patients and children.”

Having built the most advanced system for rare disease genome analyses now the next hurdles are to make this available as many kids in the Midwest and beyond. One new area of investigation together with the Frontiers CTSI (KUMC and CMH) is to test cutting-edge genomic testing in underserved communities and rural populations. Other research linked to GA4K at CMH (led by Dr. Scott Younger) is now accessing the sequencing and patient data to find new therapeutic targets and strategies to treat rare disease.

For more information about GA4K and how to participate in the program, visit our Genomic Answers for Kids page.

Behind the Research