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The essence of precision health: Clinical Genomics Program to open at Stanford this spring

A new Clinical Genomics Program at Stanford will improve the diagnosis of rare genetic diseases, benefiting patients such as Tessa and Colton Nye.

Soon after birth, Tessa Nye began experiencing severe seizures. But it wasn't until 10 years later, following the birth of her younger brother, Colton, that researchers had the capability to determine that both siblings shared a rare genetic condition prompting the seizures.

This spring, the availability to make diagnoses like these will be available more broadly through a new Clinical Genomics Program at Stanford Health Care and Stanford Children's Health. The service will offer sequencing of the 21,000-or-so genes related to human disease, analysis and genetic counseling to patients with undiagnosed genetic diseases, a Inside Stanford Medicine news article explains.

That type of sequencing, called "whole-exome" sequencing, leads to diagnoses in 25 to 30 percent of cases, said the program's co-medical director Louanne Hudgins, MD.

And even if researchers don't spot something right away, they can return to reexamine the data a year later, searching for the most recently discovered gene mutations.

"Sequencing the genomes of patients and families represents the state of the art in genetic testing for patients today," said Euan Ashley, DPhil, FRCP, who co-directs the new program. "It is the essence of precision health: understanding disease at a deeper level so that we can treat it more precisely. You are essentially looking at someone's DNA and figuring out exactly what is wrong with them."

That ability is critically important to families like the Nyes.

"As a parent, it was very meaningful to get a diagnosis," said Tessa and Colton's mom, Kim. "We haven't found our miracle cure yet, but whole-exome sequencing has absolutely had an impact on suggesting new treatment options... At some point there will be a breakthrough based on the underlying genetic cause. I am certain of that."

Photo of parents Kim and Zach Nye with Colton and Tessa courtesy of the Nye family

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