(SANTA FE , N.M.) -- A new DNA test has been developed to detect parents who are carriers of 580 of the most severe inherited childhood diseases, including Batton, muscular dystrophy, and immune deficiencies like the "Bubble Boy" syndrome and Pompe disease, described in the 2010 film Extraordinary Measures.
The test, which was announced in the journal Science in Translational Medicine, uses genetic sequencing to identify recessive mutations before a couple decides to become parents.
The average person carries at least two-to-three gene mutations that can cause diseases. When both have the same mutation, the chance of having an affected child is one-in-four; the risk of having a child who is a carrier is two-in-four; and the odds of having a normal child is one-in-four.
The carrier screening test is cheap -- less than $400 for hundreds of conditions -- and could be marketed in the near future, according to Dr. Stephen Kingsmore, now a physician-researcher at Children's Mercy Hospital in Kansas City, Missouri, where clinical work will be done.
"The long-term impact could be phenomenal," said Kingsmore, who headed up the research at the National Center for Genome Resources in Santa Fe, New Mexico.
The test will likely be a blood test and later a simple swab of the cheek. Egg and sperm banks may be the first industry to adopt the testing to screen potential donors.
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