The majority of genetic variants (or changes) associated with common diseases can have very small effect sizes. In contrast, Sema4 Natalis only screens for variants that are expected to cause disease if present or present in combination with one additional disease-causing variant. In fact, our test only includes conditions with high penetrance in childhood. This mean means that, while not every child born with one of these variants will be symptomatic, the probability is high enough (>80%) that proactive screening can be beneficial.
If your child screens positive for a genetic condition, a genetic counselor will contact you and your pediatrician to discuss the results of the test and help you navigate next steps. Further testing to confirm the diagnosis may be recommended.