Newborn Screening Test to Detect 193 Genetic Diseases

by Colleen Fleiss on Feb 13 2018 11:29 PM

Newborn Screening Test to Detect 193 Genetic Diseases
Sema4 Natalis, supplemental newborn screening test performed using a swab of saliva of the newborn can help parents gain early insight into their baby’s health.
It uses advanced DNA sequencing to analyse a baby's genes with the accuracy of next generation technology and can be used for children up to 10 years of age.

"Until now, families have been likely to be caught off-guard by these early-onset diseases, and prognosis is often poor by the time symptoms have manifested," Eric Schadt, Founder and CEO of Sema4, the US-based company behind the test, said in a statement.

"We can now identify babies at risk for these broader set of diseases and deliver interventions -- sometimes as simple as vitamin supplements -- in time to make a real difference," Schadt added.

Sema4 Natalis, which can be bought online, also includes a pharmacogenetic analysis of how a baby is likely to respond to 38 medications commonly prescribed at an early age.

This information can help pediatricians guide prescription choice to avoid adverse effects or incorrect doses of medications, including antibiotics, the statement said.