Test, Test, Test. It’s the mantra we’ve been hearing for nearly two months.

We need more testing. We need earlier testing. We need greater laboratory capacity. And we need testing although we don’t yet have an approved COVID-19 treatment.

Testing, experts say, is necessary to inform the scope and infection rate of COVID-19. Information gathered through testing will ensure a solid foundation for making decisions about coronavirus and will empower decision makers to make better decisions, sooner.

Even within a politically divided nation, Americans seem to agree. According to polls conducted the week Congress passed the $2.2 trillion relief package, 89 percent support free coronavirus testing, according to YouGov/The Economist.

While this front has been revealed in the battle against COVID-19, it’s a barrier rare disease advocates have been fighting for years in trying to expand our nation’s list of recommended diseases tested for at birth.

Newborn screening is one of America’s most successful public health programs. With a prick of the heel, newborns are tested for harmful disorders otherwise not apparent at birth. While most babies “pass” this first test, if a screening is positive, clinicians can inform families about the health status of their newborns. Like the power testing affords us as we confront COVID-19, knowledge can also empower families in the newborn screening environment.

Such is the case with Niemann-Pick Type C (NPC), a rare, genetic, neurodegenerative disease that affects children and has no cure. While detectable at birth through that same heel prick, it largely goes undiagnosed, allowing the disease to progress silently.

Why? Like the majority of 7,000 known rare diseases, NPC is not screened for at birth. In fact, the federal recommended screening list of diseases includes just 35. Whether a state agrees to add a test for a new condition is determined one state at a time. So, while a baby born with cystic fibrosis in any of our 50 states will have the chance to have that disease detected by their state’s newborn screening panel, less than half the country tests for spinal muscular atrophy. This means a family with an affected child in Minnesota could know and intervene at birth, but a similar infant born in Oregon will not be given the same chance. Like with COVID-19 testing, we need nationwide and consistent newborn screening.

Early and accurate tests are critical for COVID-19, just as they are to millions of families whose newborns receive a clean bill of health in the hospital, but then watch as their babies develop nonspecific symptoms. Parents often chase these symptoms for years to determine what is happening. Leading clinicians say patients with genetic diseases often have the best chance to defeat or manage them if detected early. Like COVID-19, rare diseases often go undetected at first. Early testing is the only way to know sooner and take action.

The pandemic has also exposed the critical gap in America’s testing capacity. In April,

In Apirl, Quest Diagnostics acknowledged it had a backlog of at least 115,000 coronavirus tests. This theme of capacity is also seen in state newborn screening labs where limited machinery, professionals, and space challenge the ability to add new tests. Of course, not detecting a disease at birth pushes the capacity issue downstream. Since degenerative conditions like NPC intensify without interventions, later diagnoses result in a greater use of health care resources. Just as we’re learning with COVID-19, we need to build the testing capacity of our nation’s laboratories so we can better manage diseases earlier.

Finally, the calls for COVID-19 testing are coming even in the absence of an approved therapy. And while the public health rationale for the testing of a virus differs from testing for a genetic disease like NPC, there is also an important parallel. Knowing sooner is better. In the case of NPC, this could mean enrolling in a clinical trial, applying to receive compassionate use of an investigational therapy, and instituting other supportive care interventions like physical therapy. Like COVID-19 where knowing sooner means a person can take immediate steps to “stop the spread,” knowing sooner with rare diseases means parents can make informed decisions regarding interventions.

Testing brings knowledge and knowledge brings power. It’s true with COVID-19, and it’s true with newborn screening for rare diseases. Let’s not just reveal the fissures in public health that have been laid bare by the coronavirus. It is time for us to call on our public health policy leaders to improve how we screen for rare diseases at birth. Children living with NPC and other rare diseases are as worthy of improved health outcomes as any other American. 

Pam Andrews is co-founder and executive director of Firefly Fund, a nonprofit that supports the research and education necessary to accelerate a cure for rare neurodegenerative genetic diseases like NPC, and mother to two young daughters living with NPC.

Allison May Rosen is a communications professional with 3D Communications who also coordinates Firefly Fund’s national newborn screening initiative to add NPC to newborn screening lists nationwide.

 

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