UpdatedSeptember 13, 2021 · 4 minute read
For many rare diseases, early diagnosis and treatment is crucial.
By Taylor Kane
Newborn screening is a public-health service that screens babies for serious yet treatable conditions that are not otherwise identifiable at birth. Newborn screening tests are quick, easy and safe. Every year, millions of babies undergo newborn screening prior to being discharged from the hospital. Just a few drops of blood from an infant’s heel is all it takes to test for certain genetic, hormonal, functional and metabolic conditions.
Of the 4 million babies born in the United States each year, one in 178 are found to have a potential genetic, hormonal, functional or metabolic condition through newborn screening.
The purpose of newborn screening is to screen babies for serious conditions at birth. If a baby is identified as having an increased risk of developing a serious condition through newborn screening, definitive follow-up testing is recommended. Early diagnosis of a serious condition allows doctors to start treatment as soon as possible, which often results in better outcomes.
Since newborn screening is a universal public-health program, all babies born in hospitals are screened for the conditions on their states’ panels, regardless of insurance coverage. However, early detection and diagnosis is more beneficial to families who are able to seek appropriate medical interventions, and therefore newborn screening’s lifesaving potential does not benefit everyone equally.
Newborn screening is helpful in the context of rare disease because it allows for early diagnosis and treatment. On average, it takes a rare disease patient seven years to get an accurate diagnosis. This is particularly harmful for patients with rare diseases that can be treated by dietary management, medications or medical devices, stem cell transplants and other interventions.
For example, patients with phenylketonuria (PKU) can manage their condition by eating a low-protein diet. Without taking this step to modify diet, PKU can cause irreversible damage to the brain and nervous system. It’s vital that parents of children with PKU and many other rare diseases learn they are affected by the conditions as early as possible.
Newborn screening tests are currently available for more than 60 conditions. These conditions are chosen because they can be detected by current newborn-screening technology and have effective treatments if caught early. In the United States, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) provides national recommendations on newborn screening. Currently, the ACHDNC recommends screening for 35 core conditions. These conditions are known as the Recommended Uniform Screening Panel (RUSP) and include sickle cell disease, cystic fibrosis, phenylketonuria and galactosemia.
For a condition to be considered and added to the RUSP, it must meet the following criteria:
The RUSP is a recommendation and not a legal requirement. States have the authority to determine what conditions are on their newborn-screening panels. Many states screen for all the conditions on the RUSP, and some states screen for additional conditions. If you would like to see what conditions your state screens for, visit Baby’s First Tests.
Newborn screening can also identify secondary conditions, or conditions that can be identified when looking for a core condition. However, secondary conditions may lack therapeutic treatment that will affect long-term outcome.
Like the U.S., in Canada, there is no national newborn screening program and it is up to individual jurisdictions to determine which diseases to screen for. In the United Kingdom, the National Health Service (NHS) allows babies to be screened for nine rare conditions at birth and up until their first birthday.
The AllStripes platform, and the deep real-world evidence we are able to generate, can support efforts to add a condition to newborn-screening programs. When patients and families contribute their de-identified data to AllStripes, they can help establish the natural history of the condition, or the course of the condition over time.
Analysis of this information may reveal insights about how the timing of a diagnosis impacts health outcomes of individuals with a rare disease. Evidence suggests that early diagnosis and intervention can improve health outcomes, and this information can help build a case for adding a condition to newborn-screening programs.
When new conditions are added to a newborn-screening panel, it is often thanks to the advocacy efforts of patients and families. If you are interested in advocating for a certain condition to be added to a newborn-screening panel, you’ll want to research the criteria your state, jurisdiction or country follows for adding new conditions.
It is also valuable to know if there are other advocates in your community who are currently in the process of advocating for your condition to be added to a newborn-screening panel so you can combine your efforts. You may be able to tap into this by looking on community forums or Facebook groups and spreading the word.
Newborn Screening Portal (CDC)
Newborn Screening 101 (Baby’s First Test)
CoSponsor the Newborn Screening Saves Lives Reauthorization Act, H.R. 482/S. 350 (EveryLife Foundation for Rare Diseases)