What is newborn screening?
Newborn screening is one of the most successful public health programs in US history. Each year, just over 4 million babies are born in the US. Virtually all of them have a heel pricked to draw a few drops of blood that are analyzed to see if they have any serious, yet treatable disorders. What makes this program so essential is that the babies with these conditions look completely healthy at birth, so tests are needed to find the hidden disease. These tests tell doctors and parents whether a baby needs immediate intervention to treat a disorder that would otherwise have gone undetected until the disease progressed to the point of disability or death. Experts believe that the program saves the lives of 12,000 children annually.
But newborn screening is a global project, and we work with advocates in the UK and EU who are working to include leukodystrophies on their country’s newborn screening panels.
US, why do different states screen for different disorders?
Implementing newborn screening programs is up to each state, and there is significant variation in what different states test for. Over the past two decades, modest but vital federal funding and national efforts have resulted in greater uniformity, collaboration, and effectiveness of these programs. Federal activities ensure that each state has access to the information, expertise, and guidance to give all babies the same opportunity to be screened and treated. However, states ultimately have the final say in how to oversee newborn screening.
What is RUSP?
The Recommended Uniform Screening Panel (RUSP) is how the federal government oversees newborn screening.
In 2002, the federal government issued guidelines for states that recommended a list of 29 core conditions for which infants should be screened. This was the original Recommended Uniform Screening Panel, which is now maintained by the Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children. This committee, formed when the original Newborn Screening Saves Lives Act was signed into law in 2008, conducts rigorous evidence-based scientific review of applications for new disorders to be added to the Recommended Uniform Screening Panel. It is important to understand that while RUSP provides guidelines and recommendations for newborn screening, it does not mandate testing for the state..
I have been writing to politicians for years about newborn screening, and I have had no luck. Why is this so hard?
With thousands of diseases impacting newborns, it is challenging to make the relatively short list of disorders to screen all the babies born in a country. States have limited resources and budgets so you are fighting many other competing issues when you lobby for newborn screening. This is not easy. Telling a tragic story about your child or loved one is not enough to get states to invest millions in testing annually. That’s why we want to join forces and work together.
When I speak to officials and they tell me the state has strict requirements for newborn screening, what do they mean?
The widely accepted standards for a disorder being considered for newborn screening include these requirements:
- The existence of an effective, affordable test that could be used at hospitals across the nation.
- Evidence that there are treatments that could substantially improve the quality of life patients if they were identified at birth. Such data must be backed up by medical research and peer reviewed science.
- A rigorous care plan designed by doctors to monitor and treat newborns identified at birth.
- Some states require that a newborn screening must be approved by RUSP. This is true for California. That means a disease must undergo a full review by the RUSP to evaluate whether a disorder should be included in federal newborn screening guidelines.
Typically, it takes many years and millions of dollars to achieve these three key pillars of newborn screening. It has taken 30 years for cystic fibrosis to be included in all 50 states and the District of Columbia’s newborn screening panels. Lobbying for newborn screening is challenging.
Where is the leukodystrophy community when it comes to newborn screening?
Only one form of leukodystrophy, ALD, is included on the Recommended Uniform Screening Panel. But inclusion on RUSP does not automatically guarantee testing; so, even with RUSP approval families must lobby states to get ALD added. Krabbe disease is part of the newborn screening panels in several states.
However, it was not accepted to the RUSP in the past because of problems with the high false positive rate for the test and the lack of effective treatments for Krabbe disease at that time. It is estimated that advocates will be ready to attempt RUSP approval again by the end of 2020, but even so, advocates have been making the case for Krabbe disease for over ten years even without RUSP approval. There are pros and cons to such an approach. MLD newborn screening is still only in the pilot phase and there is not enough data or information for submissions to individual states or RUSP.
However, we here at the Leukodystrophy Newborn Screening Action Network will be working to lobby states AND support the RUSP application process. We look forward to helping other leukodystrophies gain inclusion on RUSP and newborn screening panels in the US and abroad.
What are some common objections to newborn screening for leukodystrophies?
Leukodystrophies may be rare, but being a carrier is not. For example, it is estimated that 1 in 125 are carriers of the gene mutations that cause Krabbe. Some have multiple children before having a child with a treatable Leukodystrophy. Until carrier screening is done for all prospective parents, NBS is the most effective way to identify and protect those born with rare diseases.
Also, due to frequent misdiagnosis, it’s possible that leukodystrophies are not as rare as it is assumed. If we had robust NBS for these conditions, we’d have a far better assessment of the frequency of occurrence. Imagine being told that your child is dying but they could have treated it had they been screened for it at birth, and then consider again whether or not it’s worth it.
This is typically untrue as 47 states already have a NBS fee added to the cost of each birth, and insurance covers most/all NBS costs: “The Patient Protection and Affordable Care Act (hereinafter, Affordable Care Act) requires most health plans to cover the federal Recommended Uniform Screening Panel (RUSP) of 31 core and 26 secondary newborn screening (NBS) tests with no coinsurance or copayments (link to info on federal mandate: https://www.ncbi.nlm.nih.gov/pmc/).” It is estimated to cost between $1-8 per child (depends on lab) to add LSDs to the screening panel. A majority of states already possess the equipment necessary (tandem mass spectrometry) to test for these conditions.
There may not (yet) be a cure, but there are effective treatments that can only be done while the child is pre-symptomatic. Gene therapy and stem-cell transplants have proven to be effective IF caught at birth. By not screening, we are essentially handing these babies a death sentence and robbing the parents from a chance to even try to save their child’s life. Also, by not screening, the improvement of the treatment is hindered by lack of eligible candidates.
ALD was added to the RUSP in 2016 and Krabbe will be considered in the coming year. Addition to the RUSP is an arduous process and takes a great deal of time, both in writing the application and in the review of the application by HRSA. In many cases, the effective treatment is already in play long before submission for consideration because the submission process is so involved. Science moves faster than bureaucracy. Not being on the RUSP shouldn’t disqualify a condition from being added if it meets all criteria for addition.