People living with an inheritable disorder like Gaucher disease understand that their children may be born with the disease. But for people who don’t know they carry a specific genetic mutation (change), newborn screening can be lifesaving.
Each year, approximately four million newborns in the United States undergo screening for rare disorders. The goal of this public health service is to identify infants who may have disabling and life-threatening conditions.
We spoke with Melissa Wasserstein, MD, to understand the benefits and limitations of newborn screening. She is chief of the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore. She specializes in pediatrics and rare metabolic disorders like Gaucher disease. Dr. Wasserstein conducts research focused on newborn screening and is the principal investigator of ScreenPlus, a voluntary newborn screening research study.
What is Newborn Screening?
Newborn screening is a free health service provided for infants across the U.S. Medical teams check a newborn’s hearing and cardiovascular function. They also perform tests to identify babies at increased risk for rare disorders. The screening requires a few drops of blood taken from your newborn’s heel (called a heel prick test) shortly after birth.
The newborn screening test alone cannot diagnose a disease. But it can identify those newborns who should receive additional diagnostic testing. Newborn screening identifies rare conditions in approximately 12,500 infants a year.
Why is Newborn Screening Important?
Newborn screening tests for conditions that could be severe or life-threatening to babies and children, according to Dr. Wasserstein. Screening detects some diseases before symptoms occur. With an early diagnosis, children can get timely medical care for these disorders.
“When we identify a condition at this stage, we get to monitor the disease, educate the child’s family, and begin treatment before symptoms happen,” Dr. Wasserstein says. “Treating the condition before the disease becomes irreversible gives us the best benefit.”
Which Disorders Does Newborn Screening Test For?
Each state determines the disorders included on its newborn screening panel. To guide state health agencies, the Secretary of the U.S. Department of Health and Human Services provides the Recommended Uniform Screening Panel (RUSP). This list includes 35 core conditions and 26 secondary conditions (which are often discovered while screening for core conditions). The conditions fall into four categories:
- Endocrine disorders, which cause hormone levels that are too high or too low
- Hemoglobin disorders, rare blood conditions that affect the blood protein that carries oxygen throughout the body
- Metabolic disorders, conditions that affect how the body processes nutrients or manages enzymes
- Other disorders, such as cystic fibrosis, hearing loss, and spinal muscular atrophy
Each state ultimately chooses which conditions from the RUSP to include in their newborn screening. But states can add conditions to their screening panels that are not part of the RUSP. Screening is available for more than 60 disorders, and all states currently screen for at least 29 conditions. See the conditions included on your state’s newborn screening panel.
Newborn screening for Gaucher disease
Gaucher disease is not currently included on the RUSP. But four states do include Gaucher disease on their newborn screening panel:
- New Jersey
Screening for Gaucher disease is also available at select New York hospitals and birthing sites through ScreenPlus. This research study gives families the opportunity to receive added newborn screening at no cost.
The ScreenPlus panel checks for 14 additional rare diseases, including Gaucher disease, using the same blood sample as the state-sponsored newborn screening. If you live in a state that does not screen for Gaucher disease, some commercial companies offer expanded and additional newborn screening.
How conditions get added to the Recommended Uniform Screening Panel
A condition needs a nomination for RUSP consideration. Most nominations come from a team of people that may include:
- Advocacy organizations
- Professional organizations
The approval process is lengthy and involves a review of all relevant evidence for that condition. To gain approval as a core condition on the RUSP, a disorder needs to have:
- A specific and sensitive test available to detect it
- Well-understood health outcomes
- Available and effective treatment
- Proof that identifying the condition could affect a family’s future reproductive decisions
What if a Newborn Screening Test Result is Positive?
If your baby has a positive newborn screen, you’ll know immediately, and the screening may be redone. If the results suggest a true positive, specialists will conduct additional testing to confirm whether your baby has the disorder.
“There may still be uncertainties around the diagnosis,” Dr. Wasserstein says. “If so, a medical team will monitor the baby and provide treatment if needed. They’ll work with the family throughout the process to make sure the baby is getting the care he or she needs.”
About 99% of newborns will have negative screening results. When that happens, your pediatrician will receive the results and can share them with you.
Diagnosing Gaucher disease in newborns
Newborn genetic screening identifies babies that may have certain conditions but does not provide a definitive diagnosis. “There’s a big difference,” Dr. Wasserstein says. “Screening tests a population and lets you know if you are likely to have a disease. With a diagnostic test, you’ll get more detailed and accurate testing specific to Gaucher disease.”
If your baby receives a positive screening result, or if Gaucher disease runs in your family, the next step is diagnostic testing. Doctors perform a standard blood test called a beta-glucosidase leukocyte (BGL) test to diagnose Gaucher disease in both newborns and adults.
Newborn Screening vs. Prenatal Screening
Newborn screening is valuable. But it should not take the place of prenatal screening, especially when it comes to Gaucher disease, says Dr. Wasserstein. Using saliva and blood tests, doctors can determine whether you or your partner are carriers for Gaucher disease or have the disease (without symptoms). If so, you’ll have options for diagnostic testing and treatment both during pregnancy and immediately after birth.
“Knowledge is power,” Dr. Wasserstein says. “Having that information allows you to prepare and do whatever you need to do for your child right from the beginning.”
Learn more about carrier screening and it’s myths.
The Future of Newborn Screening Tests
Research studies like ScreenPlus continue to evaluate the benefit of newborn screening for rare disorders like Gaucher disease. According to Dr. Wasserstein, experts are also considering the ethical issues associated with newborn screening for complex disorders.
“Should we be screening for disease with later onset? Should we be screening for disease using whole genome sequencing?” she says. “We don’t have all these answers yet. But progress requires careful analysis of the ethical issue and concerns.”
How the National Gaucher Foundation Can Help
The National Gaucher Foundation can guide you through the process of testing for Gaucher disease. If you or your child receive a positive disease diagnosis, we offer resources to optimize your health with Gaucher disease and connect you with the support you need.
- Baby’s First Test – Gaucher – https://www.babysfirsttest.org/newborn-screening/conditions/gaucher
- Centers for Disease Control and Prevention – CDC Grand Rounds: Newborn Screening and Improved Outcomes – https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6121a2.htm
- Albert Einstein College of Medicine – ScreenPlus Overview – https://einsteinmed.org/research/screenplus/
- Baby’s First Test – Newborn Screening 101 – https://www.babysfirsttest.org/newborn-screening/screening-101
- National Institutes of Health – How many newborns are screened in the United States? – https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/infants-screened#f5