Scripps launches whole genome sequencing study to find root causes of idiopathic diseases
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 medical cases. Whole genome sequencing provides information on all 6 billion data points in the human genome. 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 diagnosis 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 genome sequencing 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."
Provided by Scripps Health
- Computational software provides rapid identification of disease-causing gene variations Jun 23, 2011 | not rated yet | 0
- Body louse genome sequencing begins Dec 09, 2005 | not rated yet | 0
- Horse genome sequence draft is issued Feb 07, 2007 | not rated yet | 0
- New genome sequencing targets announced Jul 24, 2006 | not rated yet | 0
- Future of personalized cancer care is promising and near Apr 19, 2011 | not rated yet | 0
- Motion perception revisited: High Phi effect challenges established motion perception assumptions Apr 23, 2013 | 3 / 5 (2) | 2
- Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update) Apr 02, 2013 | 4.5 / 5 (11) | 5
- The visual system as economist: Neural resource allocation in visual adaptation Mar 30, 2013 | 5 / 5 (2) | 9
- Separate lives: Neuronal and organismal lifespans decoupled Mar 27, 2013 | 4.9 / 5 (8) | 0
- Sizing things up: The evolutionary neurobiology of scale invariance Feb 28, 2013 | 4.8 / 5 (10) | 14
Classical and Quantum Mechanics via Lie algebras
Apr 15, 2011 I'd like to open a discussion thread for version 2 of the draft of my book ''Classical and Quantum Mechanics via Lie algebras'', available online at http://lanl.arxiv.org/abs/0810.1019 , and for the...
- More from Physics Forums - Independent Research
More news stories
University of Minnesota Medical School researchers from the Masonic Cancer Center, University of Minnesota, in partnership with the University's Brain Tumor Program, have developed a new mouse model of malignant peripheral ...
Genetics 18 hours ago | 5 / 5 (1) | 0 |
Northwestern University scientists have shown a gene involved in neurodegenerative disease also plays a critical role in the proper function of the circadian clock.
Genetics May 16, 2013 | 3 / 5 (1) | 1 |
Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of ...
Genetics May 16, 2013 | 5 / 5 (1) | 3 |
Ethicists provide framework supporting new recommendations on reporting incidental findings in gene sequencing
In a paper published in Science Express, a group of experts led by bioethicists in the Center for Medical Ethics and Health Policy at Baylor College of Medicine provide a framework for the new American College of Medical Geneti ...
Genetics May 16, 2013 | not rated yet | 0
The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. ...
Genetics May 16, 2013 | not rated yet | 0
(Medical Xpress)—Native peoples in regions where cameras are uncommon sometimes react with caution when their picture is taken. The fear that something must have been stolen from them to create the photo ...
54 minutes ago | not rated yet | 0 |
Australian scientists have charted the path of insulin action in cells in precise detail like never before. This provides a comprehensive blueprint for understanding what goes wrong in diabetes.
40 minutes ago | 4.5 / 5 (2) | 0 |
The level of immunity to the recently circulating H7N9 influenza virus in an urban and rural population in Vietnam is very low, according to the first population level study to examine human immunity to the virus, which was ...
19 minutes ago | not rated yet | 0 |
Researchers at Emory University have identified a protein that stimulates a pair of "orphan receptors" found in the brain, solving a long-standing biological puzzle and possibly leading to future treatments for neurological ...
16 minutes ago | not rated yet | 0 |
In a striking, unexpected discovery, researchers at Albert Einstein College of Medicine of Yeshiva University have determined that vitamin C kills drug-resistant tuberculosis (TB) bacteria in laboratory culture. The finding ...
31 minutes ago | 5 / 5 (1) | 0 |
Prostaglandin analogues (PGAs), drugs which lower intraocular pressure, are often the first line of treatment for people with glaucoma, but their use is not without risks. PGAs have long been associated with blurred vision, ...
18 minutes ago | not rated yet | 0