Baylor College of Medicine Uses SEQUENOM’s MassARRAY(R) System to Develop Improved Genetic Testing for Cystic Fibrosis (CFTR)
SEQUENOM, Inc. today reported that clinicians at the Baylor College of Medicine have published the successful implementation of the MassARRAY(R) system for high-throughput CFTR testing. The publication in the September/October 2004 issue of Genetics IN Medicine also reports the discovery of a new disease causing polymorphism. The extended CFTR assay panel developed for use onSEQUENOM’s MassARRAY system covers 51 mutations. Most importantly, results from the Baylor DNA Laboratory established the clinical significance of a rare CF mutation and contributed to recently revised CF testing recommendations by the American College of Medical Genetics.
The panel and MassARRAY system were validated with over 1,000 patient samples. In comparison to a laboratory standard, the ASO hybridization assay system, the MassARRAY system delivered complete concordance and enabled more detailed sample characterization in two cases. As a result, MassARRAY technology and the 51 mutation panel were implemented for routine CF clinical testing in the laboratory, and more than 5,000 patient samples have been tested.
“We are pleased that our MassARRAY system is part of this important genetic testing effort. These data demonstrate that the MassARRAY system delivers exemplary DNA analysis data for clinical research and clinical practice,” said Toni Schuh, Ph.D., President and CEO of SEQUENOM. “We believe that this is an excellent example of the superior performance of the MassARRAY system as a leading platform in the genetic testing market.”
Headed by Dr. Benjamin Roa, the research team at the Medical Genetics Laboratories in the Department of Molecular and Human Genetics at Baylor College of Medicine developed a multiplexed 51-mutation extended CF panel that incorporates the 25 originally recommended CFTR mutations, plus 26 additional mutations, including the newly characterized 3199del6 CF mutation. The extended panel is designed to allow physicians to diagnose CF patients more accurately than previous tests.
“Using mass spectrometry adapted for DNA analysis enabled the evaluation of each patients’ CF mutation status in a very sensitive and specific manner,” said Benjamin Roa, Ph.D., Director, Baylor DNA Diagnostic Laboratory and Assistant Professor, Department of Molecular and Human Genetics at Baylor College of Medicine. “Several advantages of the technology we use to conduct our research include high throughput testing for patient samples and mutations, improved turn around times and flexibility in assay design. Flexibility is a key advantage given the dynamic nature of genetic testing.
Our research also enabled the identification of the newly characterized 3199del6 CF mutation. Due in part to our research, the American College of Medical Genetics recently revised CF testing recommendations for more accurate CF screening.”
The MassARRAY system can be utilized in many areas of molecular medicine to help clinical researchers to obtain better data that more precisely defines the condition of each patient. The MassARRAY system attributes include specificity, high analytical sensitivity, high sample throughput, and flexibility providing researchers with the confidence that their results are supported by reference level accuracy. At the Baylor DNA Diagnostic Laboratory, over 5,000 individuals have participated in the successful CF clinical testing using MALDI-TOF mass spectrometry that is the heart of SEQUENOM’s MassARRAY system. At the Chinese University of Hong Kong, Dr. Dennis Lo, a renowned genetic researcher is using the MassARRAY system to develop non-invasive prenatal diagnostic tests. These examples support the use of the MassARRAY system for applied genetic analysis as it redefines data quality performance standards in the clinical laboratory setting.
About Cystic Fibrosis
Cystic Fibrosis is a genetic disease that affects approximately 30,000 people in the United States. CF is the most common life-threatening autosomal recessive disorder in the Caucasian population. CF occurs in approximately one of every 3,200 live Caucasian births (in one of every 3,900 live births of all Americans). About 1,000 new cases of CF are diagnosed each year. A defective gene causes the body to produce abnormally thick, sticky mucus that leads to chronic and life-threatening lung infections and impairs digestion. The median age of survival for people with CF is 33 years.
About Baylor College of Medicine
Baylor College of Medicine, based in Houston, Texas is one of the leading medical research institutions in the United States. Since 1900, Baylor College of Medicine has grown into an internationally respected medical and research institution known for excellence in education, research and patient care.
About SEQUENOM
SEQUENOM is committed to providing the best genetic analysis products that translate genomic science into superior solutions for biomedical research, molecular medicine and agricultural applications. The Company’s proprietary MassARRAY system is a high-performance DNA analysis platform that efficiently and precisely measures the amount of genetic target material and variations therein. The system is able to deliver reliable and specific data from complex biological samples and from genetic target material that is only available in trace amounts. http://www.sequenom.com
SEQUENOM(R) and MassARRAY(R) are registered trademarks of SEQUENOM, Inc
