A whole-genome genetic test that detected a rare blood disorder in a child likely saved her life after she barely survived two emergency hospital visits, as reported by multiple online new sources.

By the time Brynn Shulte was 1 month old, she had almost died twice due to issues involving her blood, including bleeding in the brain, The Associated Press said.

During her second visit to the hospital, her parents learned of a clinical trial being conducted by the Journal of the American Medical Association, or JAMA, that involved 400 hospitalized babies.

The study was looking at whether more comprehensive genetic tests called whole genome sequencing on babies younger than age 1 suspected to have a genetic disorder would be beneficial, according to JAMA.

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What is whole genome sequencing?

The National Library of Medicine said whole genome sequencing tests “analyze the bulk of an individual’s DNA to find genetic variations,” a procedure that usually happens after smaller genetic tests yield no diagnosis or offer unclear results. Such a test is “often more cost- and time-effective than performing multiple single gene or panel tests.”

Less than a week after Brynn and her parents were tested, she was diagnosed with a rare bleeding disorder, The Associated Press said.

“The study found 49% of abnormalities, compared to 27% with more commonly used tests targeting particular types of genetic diseases,” The Associated Press said, adding that certain diagnoses would’ve been “delayed — or even missed — with multiple narrower tests.”

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The JAMA study detected a molecular diagnostic variant in 51% of all participants.

What is genetic testing?

The purpose of genetic testing is to detect changes called mutations in your DNA, the U.S. Centers for Disease Control and Prevention said.

Per the CDC, a few reasons someone might get genetic testing done is to “learn whether you have a genetic condition that runs in your family before you have symptoms,” to diagnose a genetic condition or to understand the probability of a future genetic condition in your family.

The National Library of Medicine lists different types of genetic testing, including:

  • Molecular tests (including targeted single variant, single gene, gene panel, whole exome sequencing/whole genome sequencing tests) when change in one or more genes is studied.
  • Chromosomal tests, where chromosomes are analyzed for large-scale changes.
  • Gene expression tests to study specific gene reactions in different kinds of cells.

“Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy) or other tissue,” per the National Library of Medicine.