Imagine waiting years to find out what is wrong with your child. For families dealing with rare disease, this is a harsh reality, and the journey is often long and filled with uncertainty. On average, it takes about 4-5 years for a child to be diagnosed, but for some, the wait is even longer. Even more startling, two-thirds of children with rare diseases remain undiagnosed.
Tomi Pastinen, M.D., Ph.D.
Director, Genomic Medicine Center, Children’s Mercy Kansas City
That is why Children’s Mercy Kansas City launched Genomic Answers for Kids (GA4K) in 2019. This first-of-its-kind pediatric data repository empowers the search for insights and novel treatments for genetic conditions in children. Our goals are to expand access to genomic testing and develop cutting-edge genomic testing to help more families get answers faster and disseminate the learnings from the new genomic sequencing in rare disease clinical research community to impact patients worldwide.
The heart of GA4K is identifying genetic causes for childhood illness, which are individually rare, but collectively impact 1 in 20 Americans. One of the key tools to finding genetic causes of illness is genome sequencing. Genome sequencing reads the book of a person’s genetic information, or DNA, letter by letter. The DNA between any two humans is 99.9% the same. The 0.01% difference between humans is what gives us different characteristics and appearances. Some of these genetic differences can also lead to disease, identification of which allows us to determine cause of childhood disease.
5-base HiFi sequencing
Through the GA4K program, we have pioneered the world’s most-advanced genomic sequencing technology, 5-base HiFi sequencing, and we’ve made incredible progress in understanding the human genome. For the first time, our researchers can now sequence the full genome and methylome in one test.
This means we can access patient DNA all at once, rather than needing multiple tests from different labs, and detect all types of variation in the genome. Thanks to this breakthrough, we can now identify previously undiagnosed mutations that cause rare disease.
GA4K has also paved the way for integrating 5-base HiFi sequencing into clinical care, benefiting more patients beyond research. We were the first in the country to use this technology in a clinical setting, speeding up diagnoses and providing more answers than other tests for patients.
This consolidated test provides efficient diagnosis for kids with rare, complex genetic diseases, and increases opportunities to have all treatment and management options available as early as possible for ill patients in the hospital. Results that used to take months can now be achieved in two weeks with HiFi sequencing.
Better diagnosis, better care
Understanding a rare disease, even without a cure or treatment, is incredibly important. Identifying the cause of a child’s symptoms can bring immense relief to families, and it enables care teams to manage symptoms more effectively. A diagnosis can also connect families with support groups, educational resources, and specialized care that might otherwise be inaccessible. Turning uncertainty into knowledge empowers families to navigate the challenges of rare disease with greater confidence and support.
Improving rare disease diagnosis and treatment requires collaboration across children’s hospitals, and healthcare institutions and disciplines. Many of the patients enrolled in GA4K are being treated at Children’s Mercy, but the program is inclusive and open to children who may have a genetic disease not resolved by standard testing. We have eight partner institutions from around the world currently nominating and enrolling patients, and providers from other institutions can also contact us directly.
Through the groundbreaking and ambitious effort of GA4K, we have made significant strides in the field of pediatric genomics. Children’s Mercy has involved over 15,000 patients and family members in GA4K and provided rare disease diagnoses for more than 2,000 families to-date. And we are committed to helping even more children and families find answers.
To learn more, visit cmkc.link/GenomicA4K
