TRICON: Clinical Exome Sequencing More Efficient and Unbiased, Says Pathologist
February 17, 2015
By Riley McDermid, BioSpace.com Breaking News Sr. Editor
Clinical exome sequencing is more efficient than sequential gene testing, unbiased, genotype first and can see multiple genetic disorders in the same patient, all of which makes it a superior technology for molecular medicine, Rong Mao, a medical doctor and associate professor of pathology at the ARUP Lab at the University of Utah said Tuesday.
Mao made the comments as part of a panel titled “Clinical Exome Sequencing for the Diagnosis of Neurodegenerative Disorders” at the 2nd International Molecular Medicine Tri-Conference, where over 3,000 attendees from 40 countries have descended upon San Francisco for a week of the latest news and advances in molecular medicine.
Clinical exome sequencing is a promising genome-based technology that is being closely watched for its potential to treat rare childhood diseases. So far it has a 25 to 30 percent detection rate for identifying the causes of Mendelian diseases with deleterious mutations. Mao presented several exome cases and then discussed sequencing as an efficient diagnostic tool for complex neurodegenerative disorders.
“Development regression could be caused by wide range of problems, gray or white matter disorders, mitochondrial or metabolic,” said Mao. So having an effective tool to diagnose specific disorders quickly is the best way to find treatment for complex cases, she said.
“The benefits to patients are clear,” said Mao. “We have high diagnostic yield, increased efficacy of treatments and reduced ineffective treatments.”
In addition, the sequencing the happens can then be used in research. “The [Online Mendelian Inheritance in Man] has 4,105 disease associated genes, but with the [National Insitutes of Health] undiagnosed disease exome sequencing yield is 25 percent,” said Mao.
To illustrate the efficacy, Mao presented the case with dopa dependent dystonia starting at age two.
“The patient is now 21, with MRI normal, and the EEG has shown for episodes of epilepsy, not diagnosis,” said Mao.
OMIM is a database of human genes and genetic disorders compiled to support human genetics research and education and the practice of clinical genetics. It is distributed electronically by the National Center for Biotechnology Information and integrated with the Entrez suite of databases, while being written and edited at Johns Hopkins University with input from scientists and physicians around the world.
Hosted by the Cambridge Healthtech Institute this year’s conference will continue for six days and has a focus on Drug Discovery, Genomics, Diagnostics and Information Technology. Tri-Conference, or #TRICON, includes an expanded program with six symposia, over 20 short courses and 17 conference programs.
Over 500 speakers will participate in 400 presentations and panel discussions in programs such as Genomic Technologies for Patient Stratification and Technology-Driven Oncology Clinical Development, and symposia including New Frontiers in Gene Editing and Clinical Cancer Immunotherapy.
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