Newborn Test Looks For 193 Diseases in Genetic Code

The US government recommends newborns be screened for a minimum of 34 disorders (some states may have additional requirements). The standard test involves a small sample of blood taken the baby’s heel. This new test takes only a swab of saliva from a newborn’s cheek; it will probe the baby’s genes for 193 genetic diseases, like anemia, epilepsy, and metabolic disorders. The $649 test is meant for healthy babies, as a supplement to existing screening tests.

Improved Newborn DNA Health risk Screening

The company behind the test, Sema4 Natalis, says some parents may want more information about their child’s genes than what standard testing delivers. Parents who have seen family suffer, or have suffered themselves, for years before getting a proper diagnosis of a disease want to prevent their children from going through the same painful experiences.

What Does Sema4 NatalisLook For?

To find any conditions, the test analyzes 166 genes by sequencing DNA; it examines a subset of genes, rather than the whole genome. All the conditions the test looks for have some kind of treatment currently available. The test also analyzes how an infant is likely to respond to 38 medications commonly prescribed in early childhood.

What’s Wrong With the Test

Even if a baby has a mutation in a gene, it could take years for symptoms to appear. Or, a child may carry a mutation but never develop the corresponding disease. This is one reason DNA sequencing isn’t yet routine for children and adults who are currently healthy. The other reason is that the test could open up a can of worms for overly-anxious parents.

The test is offered to all but is recommended more for babies whose genes may contain diseases that cause disability or death.

To find out more about our DNA testing services, contact Test Smartly Labs today.

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