From Diagnostic Odyssey to Diagnostic Discovery
A six-year wait. An average of three misdiagnoses. All while living with challenging medical conditions, robbing kids of a healthy childhood.
That’s the typical experience of a family with a child fighting rare disease. A long, painful diagnostic odyssey, full of hospital stays, doctor visits, and lots of tests. And waiting. Waiting for answers.
Waiting to understand the answer to fundamental questions like, “What is wrong? What is my child’s diagnosis? What is causing this array of medical needs?”
But the new Children’s Mercy Research Institute in Kansas City is changing this diagnostic odyssey through a flagship program called Genomic Answers for Kids.
Genomic Answers for Kids is a first-of-its-kind pediatric data repository to facilitate the search for answers and novel treatments for pediatric genetic conditions. Thanks to early investments in one of the very few pediatric genome centers in the world carrying out clinical whole genome sequencing, advanced long-read -and single-cell genomics performed in patients, Genomic Answers for Kids is leading the world in diagnosis rates for rare disease. This program, combined with having one of the largest pediatric clinical pharmacology programs in the nation in-house, means Children’s Mercy will provide the highest rate of genetically targeted therapeutic dosing regimens for kids.
Philanthropic support has allowed Children’s Mercy to rapidly expand this program, accelerating a 20-year project to an anticipated seven short years. In the first two years of the program, Genomic Answers for Kids has already enrolled nearly 3,160 patients with rare disease, which has resulted in more than 16,000 new genomic analyses and more than 586 genetic diagnoses. This is an astonishing achievement for families who would otherwise wait more than six years for a correct diagnosis, and often receive the wrong diagnosis. Families like June’s.
The phone call that changed everything
Genomic Answers for Kids provides hope for kids like June. June was born with several health challenges including a congenital diaphragmatic hernia, pulmonary hypertension, a heart arrythmia and other complications. After many years of trying to understand how to best treat June, her parents desperately wanted more answers.
“Not having a diagnosis, you kind of feel helpless. It always makes you question. You want to know what happened,” Megan, June’s mom, said.
After waiting more than 5 years for a diagnosis, Megan received an unexpected phone call. Through the Genomic Answers for Kids project, researchers were able to diagnose June with a MYRF-related disorder (myelin regulatory factor gene) in just three short months.
“We were very happy to hear that there is a name for it. It’s rare, but there are other kids [who have it]. Without research and Genomic Answers for Kids, June would still be stuck in a world with no hope. We now have the hope and answers we need to give her the best quality of life possible” Megan, June’s mom, said.
Rare is common
While individually rare, collectively rare disease is very common. One in 10 Americans has a rare disease. 50 percent of people with rare diseases are children, and 30 percent of those children won’t live to see their fifth birthday. Only 5 percent of rare diseases have an FDA-approved treatment, leaving families without hope.
Rare disease places a heavy burden on the families who are navigating them, and on hospital systems nationwide. One in 6 hospital admissions of children are due to rare disease.
Often, rare disease isn’t diagnosed quickly because of lack of access to next-generation whole genome sequencing, and the molecular knowledge to identify and classify rare disease, and then pursue treatment options.
Tom Curran, PhD, FRS, Senior Vice President, Executive Director and Chief Scientific Officer, Children’s Mercy Research Institute said studying the genetics of thousands of children will help make rapid progress against unknown diseases, “We are one of the first organizations, indeed anywhere in the world, to be doing this.”
Sharing the knowledge
Genomic Answers for Kids will be a rich resource for researchers studying genetic conditions and will lead to answers and new treatments for children.
The data collected for Genomic Answers for Kids will also be openly shared with the wider international rare disease research community to hopefully lead to the discovery of unconventional genetic variants. The Children’s Mercy Research Institute is also uploading sequencing information to the National Institutes of Health’s database of Genotypes and Phenotypes.
“Clinician-scientists, anywhere in the world, can compare the genetic makeup of their patients against individual cases that have already been sequenced, to help discover more relevant diagnoses,” said Tomi Pastinen, MD, PhD, Director, Genomic Medicine Center.
Accelerated by philanthropy
“Normally to get a project of this magnitude up and running it would take years, but thanks to generous donations from the community we’re investing in thousands of families here in the Kansas City region and beyond to give families the answers they deserve,” said Pastinen.
Donors generously gave more than $19M to get this program off the ground and accelerate answers for children everywhere. These forward-thinking, community-minded friends of Children's Mercy understood the potential for a project like this and helped pioneer rapid advancement in rare disease diagnosis and research.
The Children’s Mercy Research Institute
The Children's Mercy Research Institute opened a new research center in early 2021. After three years of design and planning and 32 months of construction, the nine-story, 375,000 square foot structure is located on the hospital’s downtown Kansas City, Mo. campus.
The Children’s Mercy Research Institute is centered around four Areas of Emphasis: genomic medicine, precision therapeutics, healthcare innovation and population health.
The support and resources provided by these Areas of Emphasis are driven by the value of bringing science to the bedside to meet the specific needs of the children and families – it is research with a purpose.
Learn more about Genomic Answers for Kids at Children's Mercy Kansas City.
Read Katie's story.
Read Celia's story.
Read June's story.