Scripps launches whole genome sequencing study to find root causes of idiopathic diseases

October 18, 2011

Scripps Health announced today it has launched an innovative clinical research study that is using whole genome sequencing to help determine the causes of idiopathic human diseases -- those serious, rare and perplexing health conditions that defy a diagnosis or are unresponsive to standard treatments.

The use of whole genome sequencing is a novel approach to accurately diagnosing and treating rare . Whole genome sequencing provides information on all 6 billion data points in the . This is more than 3,000 times more data than the current standard in sequencing technology – DNA arrays – which offers genotypic information on up to 1 million base pairs.

"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 J. 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."

The use of genome sequencing took a major leap forward last year, when doctors and scientists at the Medical College of Wisconsin and Children's Hospital of Wisconsin announced the first successful use of the technique to diagnose and treat a patient. Four-year-old Nic Volker had an undiagnosed intestinal illness that doctors considered terminal. Genome sequencing revealed a single mutation responsible for Nic's disease, leading to the umbilical blood transplant that saved his life.

To date, only a select few institutions across America are using whole genome sequencing for purposes such as diagnosing patients, predicting disease risk and understanding health. The technology is gradually becoming more accessible to the medical community, as the cost and time involved in sequencing a whole human genome has substantially declined – though the time involved in interpreting results is still substantial.

The new Scripps study – dubbed IDIOM, short for Idiopathic Disease of Man – is believed to be the first whole genome sequencing study of adult idiopathic disease to date. Scripps plans to collaborate with other medical and research centers involved in different types of whole genome sequencing research by sharing key findings.

Scripps anticipates its new research will initially include up to six participants, with most to be referred by Scripps-affiliated physicians. Two of the study's participants are expected to be pediatric patients from Saint Francis Hospital in Tulsa, Okla. Data analysis will be provided by the Scripps Translational Science Institute (STSI), a major research initiative at Scripps Health involving a collaboration with The Scripps Research Institute.

"Making sense of the immense amount of data associated with the human genome is one of the biggest challenges with the application of whole genome sequencing in clinical settings," said Dr. Nicholas Schork, director of biostatistics and bioinformatics with STSI. "At Scripps, we have amassed what we believe is one of the premier teams of genome analyzers in the world, who have developed expertise in creating the methodologies that are needed to sift through and dissect the genetic basis of remarkably complex human traits and diseases."

Scripps has assembled a panel of physicians from a broad range of medical specialties to review and select patient cases for the IDIOM study. The panel is expected to begin reviewing its first potential patient cases in late October. Selection of study participants will not be limited to any specific disease types, age ranges, gender or ethnicity.

To be eligible for the study, each patient and both of their parents must be available to provide saliva and blood samples. Scripps' IDIOM study investigators will consult with participants and their doctors on diagnosis and possible care options. While the study's aim is to find the root cause of each participant's idiopathic disease, patients in the study are not guaranteed that whole genome sequencing will resolve their case.

According to a recent Institute of Medicine (IOM) report, rare diseases collectively affect millions of Americans of all ages. Of the 5,000 to 8,000 diseases categorized as rare, some affect only a few individuals, while others affect thousands. Most of these diseases are genetic or have a genetic component. The National Institutes of Health (NIH) has recognized a one- to five-year timeframe to reach proper for 33 percent of patients with rare disorders and more than five years for 15 percent of such patients.

"Studies such as IDIOM will not only help fill a significant knowledge gap with respect to the causes of rare diseases, they will also help 'test-drive' the use of whole in the clinical setting more broadly," said Dr. Cinnamon Bloss, an assistant professor and genomic scientist with STSI. "By reaching out to and including physicians in the process of selecting cases, interpreting and returning genomic results, we hope to help facilitate greater integration of genomics and medicine."

Explore further: Computational software provides rapid identification of disease-causing gene variations

Related Stories

Computational software provides rapid identification of disease-causing gene variations

June 23, 2011
Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...

Future of personalized cancer care is promising and near

April 19, 2011
Cancer survival rates could improve soon with whole-genome sequencing, according to two studies published in the April 20, 2011, issue of the Journal of the American Medical Association that describe the first clinical applications ...

Recommended for you

Maternal diet may program child for disease risk, but better nutrition later can change that

October 20, 2017
Research has shown that a mother's diet during pregnancy, particularly one that is high-fat, may program her baby for future risk of certain diseases such as diabetes. A new study from nutrition researchers at the University ...

New gene editing approach for alpha-1 antitrypsin deficiency shows promise

October 20, 2017
A new study by scientists at UMass Medical School shows that using a technique called "nuclease-free" gene editing to correct cells with the mutation that causes a rare liver disease leads to repopulation of the diseased ...

Researchers drill down into gene behind frontotemporal lobar degeneration

October 19, 2017
Seven years ago, Penn Medicine researchers showed that mutations in the TMEM106B gene significantly increased a person's risk of frontotemporal lobar degeneration (FTLD), the second most common cause of dementia in those ...

New clues to treat Alagille syndrome from zebrafish

October 18, 2017
A new study led by researchers at Sanford Burnham Prebys Medical Discovery Institute (SBP) identifies potential new therapeutic avenues for patients with Alagille syndrome. The discovery, published in Nature Communications, ...

Genetic variants associated with obsessive-compulsive disorder identified

October 18, 2017
(Medical Xpress)—An international team of researchers has found evidence of four genes that can be linked to obsessive-compulsive disorder (OCD). In their paper published in the journal Nature Communications, the group ...

An architect gene is involved in the assimilation of breast milk

October 17, 2017
A family of "architect" genes called Hox coordinates the formation of organs and limbs during embryonic life. Geneticists from the University of Geneva (UNIGE) and the Swiss Federal Institute of Technology in Lausanne (EPFL), ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.