A DNA Test That Screens Newborns for 193 Genetic Disorders
In the United States, newborns are typically screened at the hospital for 34 health conditions on the Recommended Uniform Screening Panel (RUSP), but the selected conditions vary by state and represent only a fraction of the genetic diseases that can manifest in a child’s first decade of life. But now, a newly launched DNA screening test has made it possible to detect more than five times the number of genetic diseases than a state’s standard hospital test.
For all conditions covered by the test – including atypical epilepsy, spinal muscular atrophy, and childhood cancers, among many others – there are validated medical interventions that may positively influence a baby’s future wellbeing when introduced early enough.
The test uses saliva procured from a baby’s cheek to screen for problematic genetic alterations, as well as potential reactions to a range of medications usually given to young children. All the conditions the Sema4 test looks for—it uses DNA sequencing to examine a subset of genes, rather than the whole genome—have some kind of treatment already available. The test also analyzes how a baby is likely to respond to 38 medications commonly prescribed in early
childhood.“If you can, at birth, canvass some of the most common disorders, you get a better understanding of the health of your child,” says Eric Schadt, the CEO of Sema4. “We think parents want the best for their children and are going to do whatever they can so that their child can have the healthiest life possible.”
“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. 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. We believe Sema4 Natalis will give parents the advantage of early insight in support of the care of their children.”
As noted in its recent comments to the Centers for Medicare and Medicaid Services, the National Organization for Rare Disorders (NORD) finds that “on average, individuals with a rare disease wait seven to 10 years to obtain an accurate diagnosis, leaving many individuals with chronic conditions still waiting for a diagnosis. There are millions of patients in the U.S. who are still undiagnosed, and [next-generation sequencing] may be their only hope.”
