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29-08-2023, 08:40 AM
BY LAURA UNGAR
Updated 9:57 PM GMT+8, August 28, 2023
CINCINNATI (AP) — 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.
......
"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.
But researchers envision that whole genome tests eventually will be used for millions of hospitalized babies with confounding, sometimes life-threatening conditions.
......
around 350 million people worldwide live with rare disorders, and about 80% of the more than 7,000 conditions are genetic.
https://apnews.com/article/genetic-testi...3d9cd0ba4b
Updated 9:57 PM GMT+8, August 28, 2023
CINCINNATI (AP) — 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.
......
"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.
But researchers envision that whole genome tests eventually will be used for millions of hospitalized babies with confounding, sometimes life-threatening conditions.
......
around 350 million people worldwide live with rare disorders, and about 80% of the more than 7,000 conditions are genetic.
https://apnews.com/article/genetic-testi...3d9cd0ba4b
