Imagine having a child with a disease so rare that doctors have no idea what is wrong and therefore how to help. This is the reality today for parents of children with rare diseases, a group of more than 7,000 diverse conditions, 80% of which are caused by genetic factors. Today is Rare Disease Day, an international day of awareness focused on rare diseases and the individuals affected by them, including 30 million Americans, half of whom are children.
It takes rare disease patients on average eight years to obtain an accurate diagnosis, during which time their health may have suffered irreversible damage. Earlier this month, we launched Sema4 Natalis, an extensive supplemental newborn screen that aims to provide parents with an accurate diagnosis, even before symptoms occur. Natalis screens for 193 treatable childhood-onset conditions — more than five times as many as the average state-mandated (“heel prick”) test — using advanced DNA sequencing technology. Rare diseases included in Natalis, but not in most state-mandated screens, include spinal muscular atrophy, atypical epilepsy, and certain childhood cancers, among many others. The test also includes a pharmacogenetic analysis of how a child is likely to respond to 38 medications commonly prescribed in childhood.
Natalis is the product of years of research and hard work at Sema4. We couldn’t be prouder to see it finally enter the world – it is, in effect, our own newborn! Natalis can detect genetic risk factors for rare diseases before the onset of symptoms, allowing pediatricians to reach a diagnosis and deliver interventions — sometimes as simple as vitamin supplements — in time to make a real difference. The availability of established medical treatments for all 193 conditions was an important guideline when designing our test to ensure that we only deliver medically useful information. Another vital factor was including only genetic variants highly likely to cause disease. While not every child born with one of these variants will get the disease, the probability is high enough (>80-95%) to merit attention.
Testing your newborn with Natalis couldn’t be easier. The kit can be ordered online during pregnancy, to make sure it is handy when baby makes his or her debut in the world. One of our independent physicians reviews each order to ensure it is medically appropriate for the child, and, if approved, the kit is mailed out to your home. Parents who do not want to order online can order the test through their doctor. DNA is collected from the baby’s mouth using a gentle swab and returned in the prepaid box to our CLIA-certified laboratory, where we use advanced DNA sequencing to analyze your baby’s genes with >95% accuracy. Analysis takes around two weeks, after which the results are available online in our patient portal. Every Natalis order also comes with a genetic counseling session to go over results and potential next steps.
We believe that Natalis will empower parents by giving them the advantage of early insight into their child’s health. It seems that the public agrees: 88% of Americans say that if they could find out just after their baby is born about their child’s genetic risk of getting a treatable early-onset disease, they would want to know, according to the results of a new Harris poll, commissioned by Sema4. For our part, we are thrilled to have brought Natalis into the world, and can’t wait to see the impact it will have on reducing the average time to a rare disease diagnosis as well as the associated heartbreak.
To learn more about Natalis and newborn screening, join us on March 7th from 1-1:45pm EST for a Facebook Live conversation with top reproductive health experts Dr. Alan Copperman (CMO of Sema4 and Medical Director of RMA of New York) and Dr. Joanne Stone (Director of Maternal Fetal Medicine at the Mount Sinai Hospital). In the meantime, you can find out more about Natalis here: sema4.com/natalis.