Tennessee must speed up process for screening rare newborn diseases

Tennessee is a national leader in Newborn Screening (NBS), ensuring that children have access to the testing they deserve to lead healthy lives.

Even so, we have introduced new legislation (Senate Bill 1791/House Bill 1973) to enhance this lifesaving program and keep Tennessee at the forefront of public health. Here’s why:

Each state runs a newborn screening program to identify infants with rare disorders. It is widely viewed as one of the most successful public health programs in the United States.

Tennessee founded its NBS program in 1968, a decade before the U.S. Centers for Disease Control (CDC) began a Newborn Screening Quality Assurance Program.

Tennessee currently screens newborns for 67 conditions and is considering the conditions most recently approved on an official federal list known as the Recommended Uniform Screening Panel (RUSP).

When a disorder is detected early with screening, affected infants can receive medical support that can prevent permanent disability, developmental delays, and death. Each year in Tennessee, about 385 babies are born with a rare disorder found with required newborn screening.

Across the U.S., rare diseases account for 35% of deaths in the first year of life. Our newborn screening program is a crucial leadership role that our state plays because early detection of disorders in newborns improves health outcomes and often saves lives.

It takes too long for rare diseases to be added to the federal list

Newborn screening also helps to reduce healthcare costs.

According to a recent study by the Everylife Foundation for Rare Diseases entitled “The Cost of Delayed Diagnosis in Rare Disease,” it cost an average $220,000 per person for just the diagnosis of a rare disease – and sometimes the cost reaches as much as $517,000.

Why? A rare disease diagnosis can require an average of more than six years and 17 medical interventions after symptoms begin – including emergency room visits, hospitalizations and procedures, and out-of-state-specialist appointments.

Even though Tennessee is already a leader among state newborn screening programs, we can’t be complacent. We need to ensure continued improvement in the future.

Adding a condition to the federal RUSP can take five years or more. The national committee that reviews conditions recently indicated they can only review two conditions per year. This is not fast enough – especially since there is a pipeline of innovative treatments awaiting approval – and when those come through, that will increase the number of conditions that can be found in newborns.

Once a condition is added to the RUSP, it takes years for states to add it to the state screening program. Tennessee is keeping pace, ensuring that babies are getting screened for nearly everything that’s recommended. But many states lag; for some, conditions recommended eight years ago still haven’t been added.

Newborn screening programs must modernize to be able to screen for as many conditions as possible. At the federal level, this means providing more funding to the committee that reviews conditions. Congress also needs to reauthorize the federal Newborn Screening Saves Lives Act, which facilitates adding conditions to the RUSP, helps states improve and expand programs, supports parent and provider education, and ensures laboratory quality.

A rare disease diagnosis can require an average of more than six years and 17 medical interventions after symptoms begin – including emergency room visits, hospitalizations and procedures, and specialist appointments.

Our bill has support from health care organizations

Our proposed legislation would ensure that every condition approved by the RUSP would be implemented in Tennessee within three years. It also would allow Tennessee to continue to add conditions that are not on the RUSP to its screening panel with authorizations from the Tennessee Genetics Advisory Committee.

If screening for a condition is not implemented within three years, the state would have to submit a report explaining why to the Tennessee Rare Disease Advisory Council, the state legislative Health committees, and the Tennessee Genetics Advisory Committee.

Supporters of our proposed bill include Adrenal Insufficiency United; Lifescience Tennessee; Combined Brain; Vanderbilt University Medical Center; The Kennedy Ladd Foundation; Tennessee Medical Association; Tennessee Genetic Counselors Association, Patients Rising, and the Everylife Foundation for Rare Diseases.

The reason for their support is clear: Leadership at the U.S. Food and Drug Administration (FDA) expects another 60 gene therapy treatments for rare diseases to be approved by 2030. An approved treatment makes a condition eligible for screening. Our legislation can accelerate the pace of adding conditions to state NBS programs.

Families living with rare diseases are praying for these advancements in science and medicine. For progress to keep pace with available innovation there needs to be immediate commitment among healthcare providers, public policymakers, and private innovators to modernize NBS through legislative action.

Sen. Becky Massey, R-knoxville, represents District 6 in the Tennessee Senate. Rep. David Hawk, R-greeneville, represents District 5 in the Tennessee House of Representatives.