Study Published in Science Translational Medicine Shows the Average Person Carries 2.8 Gene Mutations That May Cause Fatal Diseases in Their Children
SANTA FE, N.M. and AUSTIN, Texas, Jan. 12, 2011 /PRNewswire/ — A new universal carrier-screening test shows promise for accurately identifying a couple’s risk of conceiving a child with any one of 448 devastating and fatal childhood genetic diseases, as described in a peer-reviewed paper published today in the journal, Science Translational Medicine. Developed by the National Center for Genome Resources (NCGR) with funding provided by The Beyond Batten Disease Foundation (BBDF), the test is expected to become commercially available in the third quarter of 2011, at a cost lower than any single test currently available for any single disease on the panel.
“This represents an important milestone in reducing the number of children and families affected by these devastating illnesses,” said Dr. Stephen F. Kingsmore, Chief Science Officer of the National Center for Genome Resources in Santa Fe, New Mexico. “This is a practical example of recent improvements in the cost/benefit ratio of genome analysis. Advances in gene sequencing will continue to provide new tests and tools for medical professionals, in this case, to reduce the prevalence of severe childhood illness. In this study of more than 100 subjects, the test identified mutations from known carriers with a sensitivity and specificity of greater than 95 percent and also resulted in the discovery of previously uncharacterized mutations that likely cause disease.”
As reported in the Science Translational Medicine article, each person has an average of 2.8 mutations that could be transferred to their offspring and cause one of these fatal diseases. The screening test will provide prospective parents with the ability to identify and understand the risk that they may have for conceiving a child with one of the 448 inherited illnesses included in the screening test. Severe genetic childhood diseases are individually uncommon but together they account for roughly 20 percent of all infant deaths and 10 percent of all pediatric hospitalizations. This screening test has the potential to significantly diminish and, in some cases, eliminate the occurrence of many fatal illnesses in children. A similar carrier screening strategy was used to combat Tay-Sachs Disease (TSD) and resulted in a 90 percent reduction in TSD incidence among the target population. Until now, technology and cost were the primary barriers to expanded use of the same technique on a broader universe of genetic illnesses.
The test represents a cornerstone goal of the BBDF: to prevent Batten Disease and other genetic diseases by providing a low-cost, genetic test to screen couples prior to pregnancy for the disease-causing mutations. Craig Benson, Founding Director of the BBDF said, “This test will screen for nearly 450 diseases and will cost less than any single test currently available for any one of these illnesses. We hope that the use of this test will prevent other families from experiencing the pain and suffering caused by devastating diseases like Batten. The Beyond Batten Disease Foundation is completely funded by individual donors that share our vision and goal to eliminate these illnesses.” A portion of the test’s proceeds will be used by the BBDF to help fund research for a treatment or cure for Batten Disease and provide a sustainable source of revenue to achieve this goal.
The carrier-screening test is expected to become commercially available in the third quarter of 2011.
The National Center for Genome Resources
Located in Santa Fe, New Mexico, the National Center for Genome Resources (NCGR) is a private, non-profit life sciences research institute. The NCGR mission is to improve human health and nutrition by genome sequencing and analysis. NCGR objectives are improved diagnosis, control and cure of disease, and better nutrition. www.ncgr.org
The Beyond Batten Disease Foundation:
The Beyond Batten Disease Foundation is a 501(c)(3) nonprofit organization based in Austin, Texas. The BBDF was founded by Craig and Charlotte Benson of Austin, Texas in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with Batten Disease, a fatal neurodegenerative disorder for which there is no treatment or cure. The mission of the Foundation is to eradicate Batten Disease and hundreds of other rare conditions like it through research and prevention. Craig Benson is President and CEO of Rules-Based Medicine, Inc. a global leader in biomarker testing for pharmaceutical, biotech and research applications. For more information, please visit www.beyondbatten.org.