Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate

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by Grace Frank |

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Screening newborns for genetic diseases for which treatments exist that can prevent crippling or deadly progression, especially for rare disorders like spinal muscular atrophy, has a way to go in the United States. Only seven states require this disease to be among the dozens tested from a blood sample taken in the hours after an infant’s birth.

Parents of babies with SMA, like Rajdeep Patgiri and his wife, Taisiya Usova, who moved from the U.K. to Ohio to secure treatment for their daughter, and Samatha and Jeremy Lackey of Arizona, strongly favor SMA screening. Though both families, like many others, had never heard of SMA before it invaded their lives, they now are well aware of the importance of early diagnosis and treatment to give their child a chance at a normal and healthy life.

The scope of newborn screenings are decided state by state, however, and each state struggles with competing interests and obligations, especially where demands for unfunded or underfunded services are required.

But one source of relief is a piece of legislation, first enacted in 2008 and up for renewal every five years. The Newborn Screening Saves Lives Reauthorization Act, last extended in 2014 and due to expire on Sept. 30, was renewed by the House (H.R. 2507) in May. A companion bill (S. 2158) is now before a Senate committee, awaiting action that will move it to the floor and a full Senate vote.

The 2019 reauthorization, which covers the fiscal years 2020-24, would include:

  • Funding of about $60 million each year, from a current $20 million yearly, to help support states in enacting and running newborn screening programs;
  • Supporting a National Academy of Medicine-led study to evaluate current ways of modernizing screening processes, including the Recommended Uniform Screening Panel (RUSP) process and state barriers to its implementation, and make recommendations for new ones.

The act empowers the National Institutes of Health (NIH), the Centers for Disease Control and Prevention (CDC), and similar federal agencies to support and expand newborn screening programs, as well as education programs and quality assurance efforts.

“I believe early detection and preventative medicine are some of the best ways to saves lives and reduce the cost of care,” Rep. Mike Simpson of Idaho, a co-sponsor of the House bill, said in a press release posted by Parent Project Muscular Dystrophy. “There is perhaps no greater example of this than newborn screening and this bill delivers the tools that allow nearly 12,000 babies each year to identify conditions that are rare but treatable.”

Groups supporting the act’s passage include Cure SMA, the Cystic Fibrosis Foundation, the Muscular Dystrophy Association, Parent Project Muscular Dystrophy (PPMD), and the National Organization for Rare Disorders (NORD).

All are asking the public to contact their senators, and urge passage of the Newborn Screening Saves Lives Reauthorization Act of 2019 (S. 2158).

This act will help “… by providing states with the resources they need to improve their newborn screening programs and to uniformly test for all recommended disorders. It will also provide states with assistance in developing follow-up and tracking programs,” the release states.

“These provisions will help our financially burdened health care system by saving billions of dollars throughout the lives of these children.”

To find out how to contact your state’s two U.S. senators — by phone, email, or post — follow this link.