PostedMarch 19, 2021 · 5 minute read
Millions of babies undergo newborn screening using a few drops of blood from their heel to test for certain genetic, hormonal, functional and metabolic disorders, many of which are considered rare diseases.
By Taylor Kane
Newborn screening is a public health service that screens babies for serious, yet treatable conditions that are not otherwise clinically 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, using a few drops of blood from their heel to test for certain genetic, hormonal, functional and metabolic disorders. Babies often also undergo hearing tests to screen for hearing loss and a pulse oximetry test to screen for congenital heart defects.
Newborn screening is not the same as genetic testing. The blood spot test looks for unusual levels of certain chemicals that can indicate the presence of disease. Newborn screening is not diagnostic and further testing is needed to confirm a diagnosis.
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 newborns for serious conditions at birth. If a baby is identified as having an increased risk of developing a serious condition through newborn screening, it is recommended that he or she go through definitive follow-up testing. Early diagnosis of a serious condition allows doctors to start treatment on a patient as soon as possible which often results in a better outcome.
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 so they can take appropriate action to manage and treat the condition.
Newborn screening tests are currently available for more than 60 disorders. These disorders are chosen because they are able to 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). A few examples of conditions on the panel are sickle cell anemia, 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, click here.
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 the jurisdictions to determine what diseases they will screen for. In the United Kingdom, the National Health Service (NHS), allows babies to be screened for nine rare conditions at birth 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 those 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.
In one example of this, AllStripes is currently partnering with four foundations to create a research program for the rare condition Niemann-Pick disease type C. The first study from our NPC program will focus on if early diagnosis and intervention result in better outcomes and quality of life for patients with NPC. The hope is to utilize the data to advocate for NPC to be added 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 about your efforts.