A broad genetic test saved one newborn's life. Research suggests it could help millions of others
Brynn Schulte nearly died twice when she was a baby, at one point needing emergency surgery for massive bleeding in her brain.
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.
https://apnews.com/article/genetic-testing-babies-newborns-whole-genome-cc27689e7f9deb88c9b0753d9cd0ba4b
When I worked in neonatal 30 years ago, the state of Tennessee required a test that detected only 6. This would be amazing, as in the 1000 or so births we had in my time we had some that completely flummoxed our seasoned nurses and the pediatricians