TIME Health medicine Genetic Screening Saved This Babys Life Researchers say sequencing genomes can lead to quicker diagnoses and effective treatments for more than half of children affected by brain disorders

Mya Burkhart was only six months old when she went into cardiac arrest. Fortunately, she was in the hospital when it happened, brought there by her parents because she had trouble breathing. It was her eighth or ninth visit to the emergency room for her respiratory problems, but each time the doctors had sent the Burkharts home with more questions than answers.

Mya wasnt developing at the normal rate. She couldnt lift her head and wasnt responding to people and things around her. Doctors thought she might have a muscle disorder, but her other symptoms did not fit with that diagnosis.

After her heart scare, Mya spent three weeks, including her first Christmas, in the ICU on a ventilator. I couldnt pick her up or anything, says her mother Holly. Still unable to solve the mystery of what was ailing her, the doctors finally suggested she have her genome tested. Maybe, they hoped, her DNA would offer some clues about why she wasnt growing normally.

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Holly knew the test was still in the research stages, and that there was a chance that even it might not yield any more answers about her daughters condition. At that point, I just wanted to try anything to find out what was wrong with her, she says. It boiled down to balancing a chance that their baby would live or die.

Genetic screening, especially whole-genome screening in which people can learn about their possible risk for certain diseases, remains controversial, since the information is neither definitive nor always accurate. In most cases, genes can only predict, with a limited amount of certainty, whether a disease such as breast cancer or Alzheimers looms in a persons future. As the Food and Drug Administration (FDA) contemplates the merits and efficacy of such screening, some doctors and researchers are using it with great success, according to a new study published in the journal Science Translational Medicine.

Researchers at Childrens Mercy Hospital in Kansas City, where Mya was treated, say that for 100 families, including the Burkharts, with children affected by either unknown disorders or brain abnormalities, genome screening helped 45% receive a new diagnosis, and guided 55% to a different treatment for their childs disorder. Of the 100 families, 85 had been going from doctor to doctor in search of a diagnosis for an average of six and a half years.

I was surprised by how many cases we found where a specific intervention can make a difference, says Sarah Soden from the Center for Pediatric Genomic Medicine at Childrens Mercy and the studys lead author. For me its compelling enough to push the envelope and get younger kids diagnosed.

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Genetic Screening Saved This Babys Life