Scripps Study To Use Whole Genome Sequencing

Effort All Part Of 'Idiopathic Disease Of Man' Study

Scripps Health researchers said Tuesday they will use whole genome sequencing in an effort to learn what is causing the ailments of six people whose sicknesses have so far defied diagnosis.

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The "Idiopathic Disease of Man" study will include two children from Tulsa, Okla., while the others were referred by Scripps-affiliated doctors. Work on blood and saliva samples they provide is expected to begin by the end of this month.

Whole genome sequencing provides information on all 6 billion data points in the human genome -- 3,000 times more data than the current standard.

"We're now at a turning point in medicine, where we can look at a person's entire genetic code and examine their biologic underpinnings in a way that was never possible before," said Dr. Eric Topol, chief academic officer of Scripps Health and the study's principal investigator.

"For patients who have searched in vain for the cause of their unexplained illnesses, whole genome sequencing could provide important and potentially life-saving answers," he said.

A breakthrough for the process came last year when doctors at the Medical College of Wisconsin and Children's Hospital of Wisconsin diagnosed an illness in a 4-year-old boy, and he was later given a blood transplant that saved his life. It is still only used in a few medical facilities across the country, according to Scripps Health.

The Scripps study is believed to be the first to use whole genome sequencing for diagnosing diseases in adults.

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