EveryLife Foundation Newborn Screening

ENERGY IN ACTION - EPISODE 041

EveryLife Foundation Newborn Screening

The EveryLife Foundation is dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policies that advance the equitable development of treatments, cures and life-saving diagnoses. Claire Ellis and Dylan Simon join me to discuss the importance of the Newborn Screening Saves Lives Reauthorization Act. Many rare disease patients are found through the newborn screening process, a full panel containing 35 disease screens.

EPISODE HIGHLIGHTS

What is newborn screening?

Newborn screening detects conditions that, if left untreated, can cause disabilities, developmental delays, serious illness or even death. If diagnosed early, many of these disorders can be managed successfully. Newborns are screened for genetic, metabolic, hormonal, and functional conditions that are not otherwise apparent at birth. In addition to testing, newborn screening programs consist of educational and resource materials for parents and training for healthcare professionals.

How can the community get involved?

Anyone can get involved by reaching out and contacting their senators about Senate Bill 350 and the importance of this legislation for the community. Let them know that you support the Newborn Screening Saves Lives Reauthorization Act as it is currently written.

Why don't all 50 states conduct the same newborn screening?

The disorders that newborns are screened for is set at the state level and each state implements their screening program differently. We're working to pass RUSP Alignment Legislation so that as disorders are added to the RUSP, states will automatically add these disorders to their newborn screening panels. The newborn screening legislation aims to align states, implement a timeline for screening to begin, and ensure resources are available for states to fund newborn screening panels and any disorders added to it in the future.

How is a new diagnosis added to the Recommended Uniform Screening Panel (RUSP)?

This is done through the Federal Advisory Committee, Heritable Disorders in Newborns and Children, which is under the Health Resources and Services Administration (HERSA). The advisory committee looks at properly identifying newborns, properly treating newborns and the overall benefit.

How many newborns are identified annually through newborn screening as having one of the 35 diseases?

The current estimation is approximately 1 in 300 newborns, though some states are not testing for all 35 diseases on the federal RUSP.

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