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Scripps to Use Whole-Genome Sequencing to Understand Idiopathic Disease


Scripps Health is launching a clinical research study that will use whole-genome sequencing to attempt to uncover the genetic roots of rare, unknown diseases.

The study, dubbed IDIOM, for idiopathic disease of man, will initially include around six participants that have been referred by Scripps-affiliated physicians.

While the study's aim is to find the root cause of the participants' disease, it will also "help 'test-drive' the use of whole-genome sequencing in the clinical setting more broadly," Cinnamon Bloss, an assistant professor and genomic scientist at the Scripps Translational Science Institute, said in a statement.

A handful of other research institutes and companies are also offering whole-genome sequencing to uncover the causes of rare or unknown diseases, such as the Medical College of Wisconsin and Illumina, but the practice is not yet widespread.

In the Scripps study, a panel of physicians from a range of medical specialties will review and select patient cases beginning in late October. To be eligible for the study, patients and both of their parents must provide saliva and blood samples.

"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," Eric Topol, chief academic officer of Scripps Health and the study's principal investigator, said in a statement.

The Scripps Translational Science Institute will do the data analysis, which is "one of the biggest challenges with the application of whole-genome sequencing in the clinical settings," Nicholas Schork, director of biostatistics and informatics at STSI, said in a statement.

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