Researchers suggested in a recent study that broad genetic testing could help safe millions of other children. The results of clinical trial were published recently in the Journal of the American Medical Association. Data showed testing sick newborns full genetic blueprint is nearly twice as good at finding genetic problems or abnormalities compared to narrower, more commonly used tests.
According to the research, the broader tests found 49% of genetic abnormalities, compared with 27% for the narrower tests. Experts say this offers hope to parents of millions of babies with confounding conditions. But they caution there are some issues, because labs vary in how they interpret results and whole genome tests more expensive and less likely to be covered by insurance.
In Texas, the Department of State Health Services said genetic testing is important for newborns. All babies in Texas are tested at birth for certain rare disorders, hearing screening, and critical congenital heart disease. Newborn screening is a powerful tool for the early identification and treatment of certain disorders.
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.
The Associated Press contributed to this report.
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