Health & Science

Using DNA tests to diagnose illness; Fish on drugs; Better parenting through TV; Restoring lost sight

Using DNA tests to diagnose illness

DNA testing to identify disease-causing mutations used to be too expensive and time-consuming for use in diagnosing individual patients. But with the cost of such DNA sequencing dropping, a growing number of parents of children with mysterious disabilities are turning to the tests for both diagnosis and possible treatments, The New York Times reports. The tests, in which scientists sequence all of a patient’s genes, now cost less than $9,000 and are often covered by insurance. “Most people originally thought of using it as a court of last resort,” says Columbia University pediatrician Wendy K. Chung. “Now we can think of it as a first-line test.” The test is no panacea: It detects a genetic abnormality in about 30 percent of cases, and leads to better management of disorders in only 3 percent. But for many parents who have spent years seeking explanations for their children’s disabilities, gene sequencing can offer relief, and sometimes even more. Twins Alexis and Noah Beery, for example, were 14 when sequencing revealed a mutation that was preventing them from synthesizing the neurotransmitters dopamine and serotonin, causing tremors and difficulty breathing. The problem was quickly treated with drugs, and three weeks later, one of the twins began running track. Most families aren’t that lucky, cautions William Gahl of the National Institutes of Health. “We try to make expectations realistic.”

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