10/21/2019 by Share Your Story

New York Expands Genetic Screening For Newborns

Thanks in large part to a grant from the NIH, several new diseases will be test-added to the genetic screening for newborns in New York.


New York expands genetic screening for newborns

Over the next 5-years, children born in certain New York hospitals can be screened for rare genetic diseases. This is possible thanks in part to a $3.2 million grant from the National Institutes of Health to Dr. Melissa Wasserstein of the Montefiore Medical Center in The Bronx, New York.

There is already genetic screening for newborns nationwide, on a variety of rare diseases as a matter of public health. The Recommended Uniform Screening Panel (RUSP) has been proposed by the Health Services and Resources Administration (HRSA) since the 1960s. Though screening may vary by state, in general screening includes cystic fibrosis, congenital thyroid and adrenal diseases, sickle cell disease and many others. This program will help determine if these 13 additional diseases should be added to the RUSP of genetic screening for newborns.

EXPANSION OF GENETIC SCREENING

This new program follows another new genetic screening program. Families with children born at Northwell Health and New York Presbyterian hospitals will have the option to test for Duchenne Muscular Dystrophy (DMD). DMD is a rare, fatal genetic disorder most common in boys.

A complimentary program is being run by Dr. Aaron Goldenberg of Case Western Reserve University School of Medicine. Here, thousands of parents will be surveyed and interviewed about the impact newborn screening has on them. This ensures that parents of newborns have their say in screening policies.

PRNnewswire quotes Dr. Wasserstein: “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. 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. We…will offer hope to families for their children’s future.”

 

 


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