September is Newborn Screening Awareness Month
Newborn Screening is a modern medical practice many believe to be the most successful public health program in United States history. Since the 1960s, every infant born in America receives a heel prick within the first 48 hours of life. The resulting dried blood is then tested for a host of genetic, endocrine, and metabolic disorders. When the test detects a disease, families are educated, and a life-changing treatment plan is quickly implemented for the child.
In certain rare conditions, time is of the essence in getting effective treatment to young patients. However, as with all rare diseases, a diagnosis can be extremely challenging to obtain. The process of receiving an accurate disease determination often takes five years or more, causing the patient to miss out on the critical window of opportunity for treatment.
Early Diagnosis and Treatment is Critical for Newborns
One such example of this limited window occurs in SMA patients. When infants with SMA receive a Food and Drug Administration (FDA)-approved gene therapy treatment before the age of two, their quality of life is greatly improved. Their motor skills progress significantly after this single-dose treatment, and their need for respiratory support drastically declines. However, this drug is only approved for children under the age of two, as studies have shown that patients above this age do not benefit from this treatment. Due to the short time frame, it is imperative to diagnose SMA patients exceptionally early in life.
Since their inception in 1963, newborn screening tests have been regulated by individual states, with guidance from the federal government. In 2002, the Secretary of the Department of Health and Human Services (HHS) created the Recommended Uniform Screening Panel (RUSP). This lists the disorders included in the newborn screening test. To be included in the RUSP, scientific evidence must prove that early detection and treatment will positively affect patients with a specific disease. The RUSP currently contains 35 core conditions, with 26 secondary conditions included.
Although the RUSP now exists on the federal level, individual states continue to dictate the diseases covered in their screenings. This map shows the number of diseases screened in each of the 50 states within the United States. Some states screen for as few as 31 of the 35 core conditions and exclude diseases proven to be very treatable, like SMA.
Creating a Federalized Screening Program
Many within the health care and pharmaceutical industries have pushed to create a centralized testing process requiring all states to screen for the same genetic conditions. However, current policies give the ultimate decision-making power to individual state legislators rather than the federal government. This back-and-forth between state and federal regulations continues to delay the approval of new diseases for the screening list. It ultimately harms the smallest of patients, who could quickly and easily be diagnosed at birth and treated promptly for their rare disease. In many cases, this delay can be several months or even years and often involves review periods of six months or more at a time.
Actionable Steps to Update the RUSP
The task of getting a new disease added to the RUSP and individual state screening tests can seem daunting, but there are several actionable ways to go about it.
- As an individual, you can write to state and federal representatives asking them to add these diseases. Encourage your friends and family to help with a telephone call, email, letter, or social media outreach.
- Patient advocacy groups play a huge role in getting new disorders added to the screening list. Members alert representatives on state and federal levels to the need for an illness to be included, often providing a personal plea as a parent or caregiver for a child with a specific condition. Many members attend rallies and appeal to legislators, offering a unique look into life with someone suffering from a genetic disease.
- Learn other ways to get involved here
Newborn Screening Advocacy Groups
We specialize in the complex trial logistics required for patients with rare diseases. We have supported over 60 clinical trials for genetic diseases, including several for SMA. Our services ease the burdens of participating in clinical trials for the smallest and sickest patients and their families, removing barriers and ensuring attentive support to logistical issues along the way.
