A Test for 400 Inherited Diseases
January 14, 2011 | Source: Technology Review
Researchers at the National Center for Genome Resources have developed a new universal screening test that shows promise for accurately identifying a couple’s risk of conceiving a child with any one of 448 devastating and fatal childhood genetic diseases.
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.
Adapted from materials provided by National Center for Genome Resources