New DNA test to screen your child for 193 genetic diseases

A simple DNA screening test designed to detect 193 childhood-onset diseases, including epilepsy, muscular atrophy and cancer, has been developed by a US-based genomic testing company.
The genetic test can be performed at home with a gentle cheek swab and allows parents to gain early insight into their baby's health, the company said.
As a supplemental test, Sema4 Natalis screens for over five times the number of genetic diseases than a standard hospital test in the US, they said.
For all conditions covered by the test - including atypical epilepsy, spinal muscular atrophy, and childhood cancers - there are validated medical interventions that may positively influence a baby's future wellbeing when introduced early enough.

According to the company, the use of Sema4 Natalis should be reviewed and approved by a physician to ensure the test is medically appropriate for the child.
"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," said Eric Schadt, Founder and Chief Executive Officer of Sema4.

"Thanks to breakthroughs in science and medicine, 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," said Schadt.

Sema4 Natalis uses advanced DNA sequencing to analyse a baby's genes with the accuracy of next generation technology, the company said.
The test may help address the issue of undiagnosed pediatric illness by using next-generation DNA sequencing and analysis to supplement traditional newborn screening, it said.