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A Good Beginning: Newborn Screening

Newborn screening expert shares his thoughts on NBS and what it means for families with neuromuscular diseases

For the first time in MDA history, we are seeing the development of specific drugs and therapies for the diseases in our program — many of which are the result of decades of MDA research. With potential new therapies in or nearing the approval stage, we are able to help infants with these diseases in a way never before possible: through a public health program called newborn screening (NBS)

Here, R. Rodney Howell, M.D., chairman of MDA’s Board of Directors, shares his thoughts on NBS and what it means for families with neuromuscular diseases.  

Why is newborn screening (NBS) important?

We currently screen all newborn babies in the United States for more than 30 conditions for which treatments are available. Early detection allows for earlier treatment, which can prevent or dramatically reduce the symptoms of these diseases. 

How can NBS for neuromuscular diseases make a difference?

There are exciting new therapies that have been approved — and others currently under consideration or soon to be considered for review — by the U.S. Food and Drug Administration (FDA). In September 2016, the FDA granted accelerated approval to eteplirsen (brand name Exondys 51) for the treatment of some forms of Duchenne muscular dystrophy (DMD), making it the first drug on the market for DMD that could modify the disease itself. Exondys 51 is expected to help about 13 percent of those with DMD by slowing progression of the disease. Notably, for this drug to have its greatest impact, it must be started before the destruction of existing muscle occurs, as it is not expected to help in the production of new muscle.  

In another exciting development, a new drug for spinal muscular atrophy (SMA) was approved by the FDA Dec. 23, 2016. Nusinersen (brand name Spinraza) has shown promise in slowing or halting the progression of the disease, with results from clinical trials showing that babies treated with the drug were able to achieve motor milestones, such as sitting up and crawling, that they otherwise wouldn’t be expected to achieve. 

We must work very hard to get into place NBS for these and other conditions as drugs to treat them become available.  

Who determines the diseases for which newborns should be screened? 

There are a variety of important factors used to determine which disorders are screened for in the newborn period. A federal advisory committee (the Advisory Committee on Hereditary Disorders in Newborns and Children, or ACHDNC) that consists of clinicians, researchers, public health experts, patient advocates, disease experts and newborn screening leaders, examines data and evidence on each disease that is submitted for consideration. It then makes formal recommendations on whether a specific disorder should be added to the Recommended Uniform Screening Panel (RUSP), a list of diseases that ACHDNC recommends be screened for in newborns. 

Because NBS is a public health program that falls under the authority of the individual states, the final decision on whether to test for a specific disease is up to each state. These decisions often rely heavily on the expert recommendations contained in the RUSP. 

What rules or criteria must be met for a disease to be added to the RUSP?

Not every disorder meets the criteria required to be included on the list. While the committee considers a number of factors when determining whether a disease should be included on the list, key factors include the following:
• The disease must be very serious. 
• The disease must be identifiable in the newborn period with a reliable test that is suitable to use for every baby in the country.
• A treatment must exist that can benefit or cure babies affected by the disease. 

Why do some states screen for additional diseases that are not on the list? 

The states usually follow the RUSP; however, some states have added conditions to the list. This approach is not recommended, because these additional diseases may lack effective diagnosis and treatment options. Results from such testing can provide families with false hope and, ultimately, with less than optimal outcomes. 

Some states do not screen for diseases that are on the RUSP. Why not?  

Often, we assume that if a disease has been added to the RUSP, states will automatically start testing newborns immediately for the disease. However, each state must take specific action to add the disease to its own screening panel. This implementation phase can be complicated, expensive and can take a significant amount of time. 

In 2016, California took an important step by passing a state law that says any condition recommended by the ACHDNC will be added to the state’s screening panel without having to first be approved by the state’s advisory panel. This law is expected to help make the implementation phase faster and more straightforward. The California state advisory panel will continue to have a very important role in establishing exactly how a condition will be tested, as well as how babies will be followed up and treated — all of which are critical to a good outcome for the babies. 

What is MDA’s role in helping to advance NBS for neuromuscular diseases?

MDA has a critical role in NBS for Pompe disease (already on the RUSP), DMD and SMA, along with other neuromuscular diseases as they become eligible for addition to the RUSP. 

MDA’s engagement in the clinical care of infants identified in newborn screening is paramount. Once these babies are diagnosed, our MDA Care Centers across the United States can play a key role in their confirmatory diagnoses, treatment and follow-up. The follow-up care in most cases will be lifelong, and in some situations (for example, late-onset Pompe disease) the clinical symptoms might be quite delayed. Only recently, with new treatments coming online and being made available, have MDA Care Centers been able to expand the vital role they play in the diagnosis and treatment of neuromuscular diseases. 

MDA also plays an important role in educating and supporting providers and families about the NBS program, and in working to influence public policy to ensure that disorders under MDA’s umbrella are included on the RUSP.

MDA’s efforts will continue to ensure the overall viability of the newborn screening program. 

A Champion of Newborn Screening

R. Rodney Howell, M.D., is recognized as one of the world’s experts on newborn screening (NBS). Howell is professor of pediatrics, chairman emeritus and a member of the Hussman Institute for Human Genomics at the University of Miami Leonard M. Miller School of Medicine. 

He’s been heavily involved in implementing NBS in the United States. In 2003, he led a federal expert panel tasked with standardizing screening protocols across the country, which led to the expansion of screening programs the following year. From 2003 to 2011, he served as founding chair of the congressionally mandated Advisory Committee on Heritable Disorders of Newborns and Children (ACHDNC), advising the secretary of Health and Human Services on genetic testing in children.

In 2011, Howell received the Champion of Newborn Screening Award from the Association of Public Health Laboratories in recognition of “outstanding leadership and steadfast commitment to the health of newborns and children.” In 2012, he was honored with the Lifetime Achievement Award by the American College of Medical Genetics Foundation for his contributions to medical genetics, especially for his work in the area of NBS.

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Our trained specialists are here to provide one-on-one support for every part of your journey. Send a message below or call us at 1-833-ASK-MDA1 (1-833-275-6321). If you live outside the U.S., we may be able to connect you to muscular dystrophy groups in your area, but MDA services are only available in the U.S.