Montefiore to spearhead $3M pilot on rare genetic diseases screenings

The National Institutes of Health granted $3 million to pediatric geneticist Melissa Wasserstein, MD, of Montefiore Health System, to lead a pilot on newborn genetic diseases screenings.

New York City-based Montefiore will work with the New York State Newborn Screening Program on the pilot, which will offer parents at eight New York-based hospitals the option to have their babies screened for 13 additional disorders not typically screened for. Newborns are usually screened for between 30 and 50 disorders, depending on their state.

The researchers will screen samples from an estimated 150,000 ethnically diverse babies across New York to determine whether these genetic disorders should be added to routine newborn screening panels nationwide.

"Rare diseases that are serious and even life-threatening can be difficult to diagnose, and often families go from specialist to specialist trying to find answers," said Dr. Wasserstein, chief of Pediatric Genetic Medicine at the Children's Hospital at Montefiore, according to the news release. "Newborn screening enables us to diagnose problems early and connect families with medical experts who can start treatment as soon as possible, leading to better health outcomes."

The pilot, called ScreenPlus, will also use a series of surveys and qualitative interviews of thousands of parents to provide data to physicians and scientists about the impact newborn screening has on families. The feedback will be used to develop ethically sensitive newborn screening policies.

In addition to the NIH grant, the pilot is funded through a cost-sharing collaboration between academic organizations, pharmaceutical companies and the Firefly Fund NPC Newborn Screening Workgroup.  

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