With New Test, Schadt’s Sema4 Aims to Broaden Scope of Newborn Screening

Xconomy New York — 

Sema4, the company that computational geneticist Eric Schadt spun out of the Icahn School of Medicine at Mount Sinai last year, is making a new bet this morning. The New York and Connecticut startup is launching a diagnostic, Sema4 Natalis, meant to go well beyond the typical tests hospitals run on newborn babies to check for serious diseases.

Newborn screening exams in hospitals—blood tests given before a baby is discharged—are done to check for serious diseases like cystic fibrosis or sickle cell disease, for which early identification and intervention can help improve a patient’s prognosis.

These tests, however, differ in each state for a variety of reasons, from the frequency of a disease in the area to the availability of treatments. The “Recommended Uniform Screening Panel” (RUSP), set up by the secretary of the Department of Health and Human Services, helps guide what is on each state’s test, but it isn’t a mandate. A state’s public health department ultimately decides which diseases are on each test. (New York’s test, for instance, looks for 58 conditions. Nebraska tests for 32.)

Commercial labs like Mayo Medical Laboratories and companies like PerkinElmer (NYSE: PKI) offer supplemental testing, for a fee, if parents are concerned about additional diseases not on their state’s RUSP. Sema4 is betting on the commercial viability of a much broader test. There are currently 34 diseases on the RUSP, 20 on Mayo Medical’s test, and roughly 50 on PerkinElmer’s, compared to 193 on the Sema4 Natalis, which Schadt says covers every state’s RUSP plus “dozens of others.”

The company says all of the conditions it tests for—among them spinal muscular atrophy and childhood cancers—currently have treatments available that may help a baby’s health if given early enough. The test, for children up to 10 years old, is done at home with a cheek swab. A sample is then sent back to a lab to screen a baby’s DNA, with results expected about three weeks from when an order is placed. For those who test positive for a disease, Sema4 offers genetic counseling to help parents figure out what the next steps are.

According to Schadt, the test costs $649 and, as an optional exam, has to be paid for out-of-pocket. But Sema4 plans to begin a “large-scale study” to try to prove that a broad newborn screening test can lead to more rapid diagnosis and treatment, and ultimately, better health outcomes. “We believe once we have built up the right type of evidence we can approach payers,” he says.

Sema4 was formed by Schadt, an ex-Merck (NYSE: MRK) and Pacific Biosciences (NASDAQ: PACB) executive and the founding director of the Icahn Institute for Genomics and Multiscale Biology. Sema4 emerged from Schadt’s work at the Icahn Institute, and after growing into a roughly 350-employee organization with revenue-generating tests, the company formally spun out of Mount Sinai last June. Schadt remains the company’s CEO.

Sema4’s goal is to become something of a diagnostics and digital health hybrid with a massive, open-access database. Schadt has spoken of using Sema4 to broaden and scale the use of genomic testing significantly while helping patients track and understand their longitudinal health data. As he explained at an Xconomy event in 2017: “How do we build a good enough data model around the individual patient to really bring precision medicine to the forefront? How do we integrate all the information, and engage patients along their journey?”

To that end, Schadt says today that the Natalis is a key component of “helping manage the pregnancy journey.” It already sells carrier tests and non-invasive prenatal tests for expectant parents that both look for different inherited diseases. Schadt says the consent forms for Sema4 Natalis also include an option for customers to share their data, including electronic health records. The hope is to “enable patients and physicians to benefit from data and the insights derived from those data,” Schadt says.

Mount Sinai Health System remains Sema4’s sole investor; Schadt wouldn’t disclose the company’s funding plans yet. “We have good traction and are growing,” he said. “No update yet beyond that.”

Here’s more on Schadt, his work at Mount Sinai, and Sema4.