A DNA test has just been launched allowing parents to screen their newborn babies and children for a variety of childhood-onset diseases. Offered by genomic testing company Sema4, the test involves gathering a DNA sample via a simple cheek swab that is then mailed back to the company for sequencing.
Newborns in the United States are currently screened for around 34 genetic conditions. This new test, the Sema4 Natalis, is designed to identify 193 different disorders that are all designated as childhood-onset diseases.
"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," says CEO of Sema4, Eric Schadt. "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."
Sema4 suggests that all conditions covered by the test have associated medical interventions, meaning the results have directly actionable outcomes either through medication or dietary interventions. The test also screens for variants in 10 genes associated with side effects or sensitivity to 38 different commonly prescribed medications. The company suggests this information can help guide parents and doctors in avoiding incorrect doses or adverse effects from medications.
These kind of DNA tests are often engulfed in controversy, as simply testing positive for a genetic mutation doesn't necessarily mean one will actually develop the associated condition. While Sema4 would suggest this information helps parents care for their children in the best possible way, critics claim these tests can lead to unnecessary medical tests and anxiety in parents.
"You put parents in a terrible position, because they don't know if they should wait until the child is sick to do in some cases draconian treatments," geneticist Laura Hercher told MIT Technology Review.
In a clear attempt to get ahead of these ethical concerns Sema4 has joined up with a network of doctors and genetic counselors to help guide parents through the test results. Included in the US$649 test price is one consultation with a genetic counselor following the delivery of the results.
While direct-to-consumer genetic testing is a burgeoning market, these tests are still generally required to go through a doctor to help make sure patients understand the consequences of their results. Every order placed through Sema4 is reviewed by a doctor in order to fulfil the federal requirements for this kind of personal genetic testing.
Last year, 23andme became the first direct-to-consumer genetic test to receive FDA approval for DNA testing without a doctor's supervision. The test was limited to 10 specific conditions only and cost $199.
Source: Sema4