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Stanford Medicine launches exome-sequencing program for patients

The Clinical Genomics Program, which began as a pilot program a few years ago, offers whole-exome sequencing and analysis to patients with undiagnosed genetic diseases.

Ten years is a long time in the life of a child. It is an eternity in the world of genomic sequencing.

Within hours of her birth in 2003, Tessa Nye began having seizures. At the time, little was known about the cause of her severe form of epilepsy despite years of trial-and-error testing. Her birth came just a few months after the completion of the Human Genome Project, the first sequence of all 3 billion base pairs of human DNA. But broad genetic testing was not yet available to patients.

The Nye family spent years chasing a diagnosis for their daughter, who experienced hundreds of seizures a day, but doctors found no genetic cause for her disorder. The couple went on to have two healthy daughters, and their fears of a genetic basis for their firstborn’s disease dissipated. When Kim delivered her fourth child, Colton, that sense of security was shattered. Within 12 hours of his birth, Colton, a seemingly healthy baby boy, suffered a seizure.

But Colton was born in 2013, in an era when genetic sequencing had become available to patients. Gregory Enns, MD, a pediatric geneticist at Lucile Packard Children’s Hospital Stanford, ordered whole-exome sequencing for Colton within days of his birth. He had ordered the same test for Tessa when it became clinically available in 2012. The test examines only the genes that code for proteins; those genes account for approximately 1 to 2 percent of the genome.

With two complete sets of genetic data to compare — Tessa’s and Colton’s — as well as the genetic data of both parents, Kim and Zach, the family’s doctors at Packard Children’s were able to identify a single-gene mutation that is the source of both children’s seizures.

‘Power of whole-exome sequencing’

“That is the power of whole-exome sequencing,” said Louanne Hudgins, MD, co-medical director of the Clinical Genomics Program, which will launch this spring at Stanford Health Care and Stanford Children’s Health. “It allows us to make accurate diagnoses in 25 to 30 percent of cases. This has been a total boon to what we do clinically. And it has been a total boon for gene discovery.”

The Clinical Genomics Program, which began as a pilot program a few years ago, will offer whole-exome sequencing and analysis to patients with undiagnosed genetic diseases. The whole-exome sequencing will be conducted on-site in a Stanford laboratory.

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Autor: Grace Hammerstrom   Quelle: Stanford Medicine, 7th March 2018
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European Public Health Association (EUPHA)OÖ Gebietskrankenkasse, Referat für Wissenschaftskooperation Center of ExcellenceÄrztekammer für WienFFG - 7. EU-RahmenprogrammÖsterreichische Akademie der ÄrzteHelix - Forschung & Beratung WienÖsterreichisches Rotes Kreuz

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