For the families involved with University of Utah Health's neonatal sequencing (NeoSeq) project, genetic research isn't academic. It means shorter hospital stays, better clinical care, and-most of all-an answer to what is often parents' biggest question: why is my kid so sick?
Racing the clock
As soon as Cal Taylor was born, it was clear that something was very wrong. His muscle tone was far too low. He wasn't breathing. A resuscitation team hooked Cal up to a ventilator and got him into the neonatal intensive care unit (NICU) immediately.
"There are no words to describe the shock and the grieving that took place as soon as he was born, and we realized this is really serious," says Anne Taylor, Cal's mother.
Doctors needed to figure out what was causing Cal's symptoms, and soon. In the NICU, every day counts: delays in diagnosis or treatment can have lifelong consequences.
Two days after Cal's birth, the Taylors were contacted by geneticists and neurologists with the Utah NeoSeq project, which aims to find diagnoses for NICU patients using rapid whole-genome sequencing and analysis.
First, the team of researchers sequenced Cal's entire genome-six billion DNA letters containing millions of genetic changes. Then, they used advanced computational methods to determine which of the changes was responsible for Cal's condition. Looking at the DNA from a research perspective allowed the scientists to use cutting-edge genetic analysis software, much of which was developed at the U.
The value of an answer
Within two weeks, the NeoSeq team had narrowed in on an answer for the Taylors. Cal had changes to a gene called nebulin, which is important for skeletal muscle function, and these changes led to a serious muscle disorder called nemaline rod myopathy.
It was a hard day. Nemaline rod myopathy has no known cure, and Cal's severe form of the disease would constrain his abilities and shorten his life significantly.
But for the Taylors, having an answer is still valuable. "It's such a cool feeling knowing they're in your corner. I can't imagine what we probably wouldn't even know [without NeoSeq]. We probably would've spent lots of money to find out, and resources are thin," says Ben Taylor, Cal's dad. "The testing was free to us. They have access to these supercomputers that can analyze the data from this testing-and they have their team ready to go through and find out which variants could have contributed to a condition. I don't even know how long that would have taken us without this project."
The path to better care
Finding a genetic diagnosis can also help connect the dots between people with rare diseases worldwide. Families armed with a diagnosis can find others in the same boat, building support networks and sharing their experiences.
And doctors across the globe can pool their knowledge of ultra-rare diseases to better understand how to manage them. "It's not unusual that we find mutations in genes that have never been known to cause a human disease," says Brian Shayota, MD, medical geneticist with NeoSeq. "We're trying to establish disease mechanisms to identify brand-new genetic conditions we never knew about before."
Since its founding in January 2020, the NeoSeq team has worked with more than 60 families: finding answers that uncover the roots of human disease, lay the groundwork for new treatments, and help doctors provide personalized care for each patient. Barry Moore, senior scientist with NeoSeq, says that the team's goal continues to be discovering information that enables better patient care.
"Knowing the genetic cause of a patient's disease helps families and doctors identify potential research studies that the patient may participate in, connect with others in the community who share their genetic diagnosis, and provide focus for following the progress of research in the field of the identified diagnosis," Moore says. "Knowing can open the door of hope for the future."
