Genetic test that saved infant's life offers hope for millions more, says research
No one knew what was wrong until a test that looked at her full genetic blueprint found a rare bleeding disorder called factor XIII deficiency — an early diagnosis that saved her life.
«You have this hopeless feeling when you don't really know what's going on,» said her father, Mike Schulte. «Casting a wide net really made a world of difference figuring this out quickly and getting her the right care that she needed almost immediately.»
Brynn, now 4, got the genetic testing as part of a clinical trial, the results of which were published recently in the Journal of the American Medical Association. «Whole genome» tests are nearly twice as good as narrower tests at unearthing genetic abnormalities that can cause disease in infants — the study found 49% of abnormalities, compared to 27% with more commonly used tests targeting particular types of genetic diseases.
Whole genome tests could solve the problem of doing several narrowly targeted tests on babies, which still might not find the disorder. Experts caution there are some issues, because labs vary in how they interpret results, and whole genome tests are costlier and less likely to be covered by insurance.
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But researchers envision that whole genome tests eventually will be used for millions of hospitalized babies with confounding, sometimes life-threatening conditions. According to the U.S. National Human Genome Research Institute, around 350 million people worldwide live with rare disorders, and about 80% of the more than 7,000 conditions are genetic.
«I've been doing clinical trials of babies for over 40 years,» said study author Dr.
