The kid holds his mother firmly by the finger
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Genomic testing and health information company Sema4 has launched a newborn test that screens for 193 childhood-onset diseases and disorders with the intention of providing parents with additional information about the health of their newborn baby. Sema4 Natalis serves as an additional testing method for conditions beyond the 34 conditions on the Recommended Uniform Screening Panel (RUSP), typically screened in U.S.-based hospitals shortly after birth.

The tests can be ordered directly by parents and the sample is collected by a cheek swab. Test results are typically available within two weeks online, and genetic counselors will contact parents and the child’s pediatrician should any of the 193 screenings return a positive result. Sema4 has partnered with virtual care company PWNHealth to provide the genetic counseling services.

“Today, a baby’s fate may depend on which state they are born in—because the number of disorders they screen for currently ranges from 30 to 65. Despite the progress that has been made within states for newborn screening as a public health service, little action has been taken to standardize or improve the way screening is done despite many scientific advances,” said Sema4 CEO Eric Schadt. “In the age of genomic medicine, knowledge continues to race forward and at Sema4, where we have depth of expertise in both clinical and laboratory genetic and genomic medicine, we are pleased to bring forward what we expect will be the next major advance in newborn screening.”

As Schadt explains it, Natalis is designed for testing for babies not exhibiting any symptoms of a disease or health condition. The intent is to provide information about potential health risk factors. The variants assessed in the test are known to play a role in causing severe diseases and only contains genes with known, highly penetrant variants—greater than 80%. While not every baby will develop the disease indicated, the risk factor is high enough to merit attention.

For many of the conditions, early intervention can play a significant role in improving the health outcomes for the babies. “This test is designed for well babies, in order to provide the opportunity to apply a validated medical intervention before symptoms begin to manifest,” said Schadt. “Sometimes these interventions are as simple as a diet change or vitamin therapy.”

In addition to screening for potential disease causing variants, Natalis also provides pharmacogenomics (PGx) information, based on the baby’s genetic profile, that provides information on how the baby will respond to 38 different medications commonly prescribed in the early years of life. Pediatricians are provided with the PGx information to help them avoid prescribing a potentially harmful medication, or to help guide proper dosing.

Sema4 Natalis was developed by researchers at Sema4 and the Genomic Sciences Department at Mount Sinai Hospital. The team narrowed down the testing panel from a set of more than 1,200 autosomal recessive, X-linked, and autosomal dominant conditions to include diseases that manifest in the first 10 years of life and those that are highly penetrant (greater than 80%). In addition, all the diseases included in the test needed to have associated treatments, disease management plans, or an active clinical trial that could positively affect clinical outcomes.

One of the goals for Sema4 with the Natalis test is to help families alleviate the diagnostic odyssey too often associated with rare childhood diseases, which often stretches between seven and 10 years.

“Sema4 developed Natalis to help address this issue of undiagnosed pediatric illness by using next-generation DNA sequencing and analysis to supplement traditional newborn screening,” Schadt noted. “[The company] was founded on the idea that more information, deeper analysis, and increased engagement will improve the diagnosis, treatment, and prevention of disease. We believe parents in general want the best for their children, and for them to have the healthiest life possible.”

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