Creating a free account will enable you to subscribe to our daily and weekly email newsletters, as well as customize your reading experience to show only the categories most relevant to you.
Signing up only take a few minutes, so why not give it a try and see what you've been missing out on.
Today (November 19th, 2013) the U.S. Food and Drug Administration allowed marketing of four diagnostic devices that can be used for high throughput gene sequencing, often referred to as "next generation sequencing" (NGS). These instruments, reagents, and test systems allow labs to sequence a patient's DNA (deoxyribonucleic acid).
The new technology also gives physicians the ability to take a broader look at their patients' genetic makeup and can help in diagnosing disease or identifying the cause of symptoms.
"NGS is changing the way we look at genomics," said Alberto Gutierrez, Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in FDA's Center for Devices and Radiological Health. "Before NGS, sequencing genes associated with a particular disease was a long and costly process. Today, we have the capability to read and interpret large segments of DNA very quickly in a single test and this information-rich technology is becoming more accessible for use by physicians in the care of their patients."
Two of the newly cleared devices are used to detect DNA changes in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which can result in cystic fibrosis (CF), an inherited chronic disease that affects the lungs, pancreas, liver, intestines, and other organs of those who inherit a faulty CFTR gene from both parents.
More than 10 million Americans are CF carriers and approximately 30,000 children and adults in the U.S. are affected with CF. Most children with CF are diagnosed by age 2 and the average life span for people with CF who live to adulthood is approximately 37 years.
The cleared devices include:
Data submitted by Illumina for their cystic fibrosis tests included comparisons of the sequence results to Human Genome Build 19, a reference representation of the human genome. In addition, Illumina evaluated the performance of its instrument and reagent systems against a publically available quality-weighted human reference genome that was created through collaboration between the FDA and the National Institutes of Standards and Technology (NIST).
FDA authorized sequencing devices provide labs with quality and performance information
The FDA also granted de novo petitions for the Illumina MiSeqDx instrument platform and the Illumina Universal Kit reagents, two devices that make up the first FDA-regulated test system that allows laboratories to develop and validate sequencing of any part of a patient's genome. The Universal Kit reagents isolate and create copies of genes of interest obtained from patient blood samples, and the MiSeqDx platform analyzes the genes. The software compares the patient's genomic sequence to a reference sequence and reports back any differences between the patient and the reference.
"The FDA's review of the MiSeqDx and sequencer and Universal Kit reagents provides clinical laboratories with information about the expected performance of the device and the quality of the results," said Dr. Gutierrez. "This information was not previously available for next generation sequencers, and, with this platform, labs can develop tests for clinical use with greater confidence because they use FDA authorized devices."
The FDA reviewed the Illumina MiSeqDx instrument platform and the Illumina Universal Kit reagents through its de novo classification process, a regulatory pathway for some novel low-to-moderate risk medical devices that are not substantially equivalent to an already legally marketed device.
For the de novo petitions, the FDA based its decision on the demonstrated performance of the MiSeqDx instrument and Universal Kit reagent systems across numerous genomic segments spanning 19 human chromosomes.
Illumina MiSeqDx instrument platform, Universal Kit reagents, MiSeqDx Cystic Fibrosis 139-Variant Assay, and MiSeqDx Cystic Fibrosis Clinical Sequencing Assay are manufactured by Illumina, Inc. in San Diego, Calif.
Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our Regulatory Affairs / Drug Approvals category page for the latest news on this subject.
Please use one of the following formats to cite this article in your essay, paper or report:
FDA. "FDA allows marketing of four "next generation" gene sequencing devices." Medical News Today. MediLexicon, Intl., 25 Nov. 2013. Web.
20 Apr. 2014. <http://www.medicalnewstoday.com/releases/269244>
FDA. (2013, November 25). "FDA allows marketing of four "next generation" gene sequencing devices." Medical News Today. Retrieved from
Please note: If no author information is provided, the source is cited instead.
If you write about specific medications, operations, or procedures please do not name healthcare professionals by name.
For any corrections of factual information, or to contact our editorial team, please use our feedback form. Please send any medical news or health news press releases to:
Note: Any medical information published on this website is not intended as a substitute for informed medical advice and you should not take any action before consulting with a health care professional. For more information, please read our terms and conditions.
This page was printed from: http://www.medicalnewstoday.com/releases/269244.php
Visit www.medicalnewstoday.com for medical news and health news headlines posted throughout the day, every day.
© 2004-2014 All rights reserved. MNT is the registered trade mark of MediLexicon International Limited.