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When Cold Case Reviews Reveal New Information

TGen and Illumina Collaboration Looks to Bring More Answers to More Families

Although TGen's Center for Rare Childhood Disorders has helped hundreds of patients end their diagnostic odysseys, there have been cases we couldn’t solve. But thanks to an exciting collaboration with the industry leader in sequencing, Illumina, these cold cases will receive a boost through improved technology that enhances TGen’s sequencing capabilities, which will mean more answers for more families.

“The Center is often the last resort for these children and their families,” said Dr. Tim McDaniel, TGen's Senior Vice President of Emerging Opportunities. “Historically our diagnosis rate runs at 40 percent. Our hope is that by looking at everything, we’ll see a marked increase in the number of children — and their parents — who receive a diagnosis," McDaniel continued. “At the same time that we're doing great science, we can actually give immediate answers to families who didn't have them before.”

Illumina and TGen will use improved whole genome sequencing to look at a child's genome. This differs from today’s current standard that focuses on roughly 3 percent of the genome housing DNA.

“We are thrilled to work with TGen to provide answers to patients. Unresolved cases like these keep us up at night,” said Dr. Ryan Taft, Vice President of Scientific Research at Illumina. “This collaboration will allow us to help these children and, at the same time, find ways to improve genomics for all those afflicted with a rare genetic disease.”

This partnership is an opportunity to give hope to families whose child has endured a diagnostic odyssey — the lengthy and multi-test journey —  and yet for whom answers remain elusive.

“The quality of the data is much higher, the expense is much, much lower, and we now have better analysis tools,” said TGen’s Dr. Matt Huentelman, professor of neurogenomics and co-founder of the Center. “I know, deep down in my heart, that there are going to be some cold cases that we are going to solve because of this partnership and the information it provides.”

And cost matters. With 75 percent of the Center's patient families receiving public assistance, making diagnosis affordable has a tremendous impact.

A diagnosis always helps, even if there are no treatment options available. Families with answers are able to connect with a community of families experiencing the same emotions and challenges, and that alone is step forward.

Some of the Center's cold case patients have already benefited from their cases getting revisited. Caroline Cheung-Yiu and her husband Bandy described the trying symptoms of their son’s previously undiagnosed disorder.

“Born healthy with no complications, Alex was an active, social, happy boy. Today, he is entirely dependent on us for his care and activities of daily living. He is G-tube fed, cannot walk, cannot talk and relies on a non-invasive ventilator to breathe,” explained Caroline.

Experts at TGen reexamined Alex’s DNA and were able to match it to a specific gene and specific disorder. The hope is this new information will help lessen Alex’s symptoms and make his quality of life a bit better.

“We're helping families who all too often have spent years looking for answers,” said Huentelman. “To see the difference an answer makes is extremely gratifying.” 

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