What is newborn screening (NBS)?
When a baby is born, a healthcare professional will administer a simple heel prick to collect a blood spot sample, which typically occurs 24 to 48 hours after birth. The dried blood spot (DBS) card is then shipped to a lab where it can be punched into smaller specimen samples to undergo various sample prep processes, then ultimately be processed by different technologies at a specialized NBS lab. Depending on the country/region of the birth and the family’s option, the scope of the screened conditions may vary. However, a couple of the most common diseases that are universally screened for include:
- Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency, which can lead to irreversible neurological deficits. as well as poor appetite and breathing problems.1 The overall incidence of CH ranges from 1 in 3,000 to 1 in 4,000 live births, with variation worldwide among different ethnicities.
- Phenylketonuria (PKU) is caused by a change in the phenylalanine hydroxylase (PAH) gene that can quickly cause infants to exhibit irritability, posturing, increased deep tendon reflexes, a peculiar “mousy” odor and vomiting.2 Approximately 1 in 12,000 Caucasians are born with PKU.
Beyond the disorders above that are more commonly screened for globally, there is momentum to expand screening for other rare diseases, at the time of birth. In some instances, states and countries are just beginning to build these disorders into their newborn screening programs:
- Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people.3 Most cases of SMA occur when a segment of a gene called SMN1 is missing. This gene is primary responsible for making survival motor neuron protein, which is required for maintaining normal, motor neuron function. SMA can affect a baby’s ability to swallow, breathe, sit, and walk. However, without early detection and treatment, SMA can cause premature death.
- Duchenne Muscular Dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact.4 In Europe and North America, the prevalence of DMD is approximately 6 per 100,000 individuals. The disease primarily affects boys, but in rare cases it can affect girls. Muscle weakness is the principal symptom of DMD.
- Mucopolysaccharidosis type II (MPS II) is a rare inherited lysosomal storage disease, mostly found in boys (also recognized as Hunter syndrome), in which the enzyme is missing or the body does not have enough of an enzyme needed to break down long chains of sugar molecules, called glycosaminoglycans (GAGs). As a result, the molecules build up in different parts of the body and cause damage that leads to various symptoms, between the ages of 18 months and four years, including coarsened facial features, such as: full lips, rounded cheeks, and a broad nose, an enlarged tongue and vocal cords. Many other organs and tissues can become enlarged with MPS II, including the head, liver and spleen, while growth for children with MPS II usually slows by the age of 5.
Why does NBS matter?
According to the CDC, each year, more than 13,000 newborn babies are identified with abovementioned conditions, and more. NBS has been proved to be a relatively easy and cost-effective way of improving the overall health of a population. A simple heel prick of a newborn, in the first week of life, is all that is needed to screen for up to 50 inherited conditions.
Many disorders screened today show no signs in the first few weeks of life, which means a seemingly healthy baby could have a condition that may affect mental and physical development or cause early death. Through screening, potentially life-threatening conditions in the first stages of life are identified for timely treatment and therapies to be introduced. The treatment for conditions can also be straightforward and inexpensive, such as dietary changes or the introduction of a supplement. Some therapies also require knowledge of an individual’s precise genetic code, which makes genetic testing crucial, not only for diagnosis, but also future treatments.
What are the current programs that help promote NBS nationally and internationally?
NBS programs are required by law in all 50 U.S. states, the District of Columbia and Puerto Rico. The Recommended Universal Screening Panel (RUSP)6 – a list of primary and secondary disorders that all newborns should be screened for, was established in 2002 by the Department of Health and Human Services (HHS) to guide each of these individually led programs.
Today, the RUSP includes CH, PKU, SMA, severe combined immunodeficiency (SCID), and cystic fibrosis, to name a few. As science evolves and innovation in the detection and treatment of congenital diseases continues, groups of researchers, physicians and patient advocacy organizations petition to add new disorders to the RUSP.
In 2022, Parent Project Muscular Dystrophy submitted its newest nomination package7 to add DMD to the list. A core component of this submission was the completion of a large pilot study in October 2021 to help demonstrate the efficacy of testing newborns for DMD. Exciting news has also come out in October 2023, when Governor Hochul of New York State8 signed bill S6814/A5042, making Duchenne NBS mandatory for all babies born in the state.
There have also been efforts making NBS more accessible for populations around the world. For example, the Noguchi Memorial Institute for Medical Research (NMIMR)9 has trained seven countries in sub-Saharan Africa, including: Ghana, Nigeria, Liberia, Uganda, Tanzania, Kenya and Zambia, to efficiently screen newborns for sickle cell disease (SCD).
NBS is pivotal for identifying conditions in all babies, regardless how healthy they seem. With the collaboration between test providers, labs and governments, more and more newborns around the world are getting the medical treatments they need, in a timely fashion. As the understanding of the potential life-altering impacts of NBS rises, we hope to advance the technology thorough various tools we currently have, and make it more convenient and affordable for all populations, to truly democratize NBS for millions of families.
1. www.ncbi.nlm.nih.gov/books/NBK558913
2. www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/syc-20376302
3. www.cdc.gov/nceh/dls/nsmbb_sma.html
4. www.mda.org/disease/duchenne-muscular-dystrophy
5. www.mountsinai.org/health-library/diseases-conditions/hunter-syndrome
6. www.hrsa.gov/advisory-committees/heritable-disorders/rusp
7. www.parentprojectmd.org/ppmd-submits-rusp-nomination-package-for-duchenne-muscular-dystrophy/
8. www.parentprojectmd.org/duchenne-added-to-new-york-states-newborn-screening-panel/
9. https://gna.org.gh/2023/09/noguchi-revvity-train-seven-consa-countries-to-enhance-newborn-sickle-cell-screening/
ABOUT THE AUTHOR:
Petra Furu is the general manager of reproductive health at Revvity. She is solution driven and forward looking, leading by example. She is passionate about driving the right decisions to help provide solutions enabling a healthy start in life. Petra has a PhD in biochemistry and eMBA in strategic business and organizational management. She has worked in science, product management and strategic business planning, as well as research and development. Petra has strong knowledge about both IVD and medical device industry regulations.
Read the article here.