Specialty Laboratories and Tm Bioscience announce the availability of an improved cystic fibrosis screening test
Clinical Test Detects 70 of the Most Frequent CF Mutations in U.S. Population
01-Dec-2003
Specialty
Laboratories (Specialty), a leading hospital-focused clinical
reference laboratory, announced the availability of an improved genetic
screening test for cystic fibrosis (CF) and Cystic fibrosis carrier status.
The test, Cystic Fibrosis 70 GenotypR(TM), offered exclusively by Specialty,
screens for 70 of the most clinically important mutations of the CF gene found
in U.S. population groups. The test was developed in collaboration with Tm
Bioscience Corporation, a DNA-based diagnostics company.
The broad mutation coverage of the test exceeds the minimum
recommendations of the American College of Medical genetics and the American
College of Obstetricians and Gynecologists for general population screening.
Because specific CF mutations are associated with different ethnic groups,
Specialty's expanded 70-mutation panel offers improved detection of CF
carriers among African-American and Hispanic individuals.
"The clinical value of the 70 mutations selected for this assay makes the
Cystic Fibrosis 70 GenotypR(TM) assay among the best in its class," noted
Douglas S. Harrington, M.D., chief executive officer of Specialty
Laboratories. "The assay represents a significant step forward in
maternal-fetal testing, strengthens Specialty's menu of tests in the OB/GYN
area, and preserves the advantages of cost, quality and turnaround time
offered by Specialty's prior generation CF screen."
"The Cystic Fibrosis 70 GenotypR(TM) assay is based on the Tm Universal
Array platform, an outstanding core technology from TM Bioscience," added
Dr. Harrington. "Their technology performs extremely well in our clinical
laboratory and holds great promise for additional diagnostic applications. The
development of the 70-mutation panel partnership was a truly cooperative
endeavor that combined the resources and capabilities of both organizations,
and serves as a fine example of innovation in laboratory medicine."
"Our partnership with Specialty will help ensure broad patient access to
cutting-edge CF genetic screening," said Greg Hines, chief executive officer
of Tm Bioscience. "Working together since early June 2003, we have achieved an
innovative application of our proprietary primer extension and tag sorting
technologies used in our Tag-It(TM) Mutation Detection products. We look
forward to pursuing equally productive co-development projects with Specialty
in the future."
Cystic Fibrosis (CF) is a common genetic disorder and a leading genetic
cause of infant mortality. Most cases are associated with substantial illness
and shortened lifespan and require lifelong medical care. The disease is
caused by inheritance of two mutations, one from each parent, in the Cystic
Fibrosis Transmembrane Conductance Regulator (CFTR) gene. If both parents are
carriers of a mutation, there is a 1 in 4 chance that a child of theirs will
have CF. The American College of Obstetricians and Gynecologists recommends
that physicians make DNA screening for CF available to all couples considering
pregnancy.
"We took great care to include only the CF mutations that are clinically
relevant to the physicians who order CF screening tests," added Jean Amos,
Ph.D., F.A.C.M.G, Specialty's scientific director of Molecular Genetics.
"There are more than 1200 known mutations to the CFTR gene. The selection of
mutations for our panel was based on the frequency with which these mutations
are present in the U.S. and European population. In addition, through ongoing
consultation with our OB/GYN clients over the past five years, we learned a
great deal about what the physician wants in a CF panel. Equipped with this
70-mutation panel and the patient-specific report that Specialty offers,
physicians can provide clear-cut answers to their patients' questions about CF
carrier status."
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Topic world Diagnostics
Diagnostics is at the heart of modern medicine and forms a crucial interface between research and patient care in the biotech and pharmaceutical industries. It not only enables early detection and monitoring of disease, but also plays a central role in individualized medicine by enabling targeted therapies based on an individual's genetic and molecular signature.
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