Annie Kennedy, Chief of Policy, Advocacy, and Patient Engagement for EveryLife Foundation for Rare Diseases, explains how new technologies in newborn screening aren’t being taken advantage of due to their costs.
Transcription:
The Everylife Foundation does a lot of work with the public health system. One of the things that happens is that as new conditions are being considered for addition to the federal screening panels in the US, which is overseen by the Secretary of Health and Human Services, there’s this health economic calculus that’s made.
The evidentiary requirements include having to understand the urgency and severity of a disease, whether or not there is a valid and reliable screening test, and whether or not there is an intervention that warrants the screen be added. But then there’s also a consideration of how much it costs to add the screen to the screening panel, and what’s that impact on the state laboratories and the providers.
But what’s always missing is what’s the cost to not screen? There isn’t data ever provided around that. We just don’t have that data. It was important to us to start to provide that data to say whether or not we’re screening.
Babies are being born with these conditions. But the introduction of screening technologies, whether we’re talking about the metabolic panels that are traditionally being used now or some of the next-generation sequencing opportunities that are before us, there are avoidable costs that are existing in our system.
If we don’t invest in those technologies that we have today, we are still paying for it. We cannot afford not to do it because what we have today is potentially life-altering and life-saving therapeutics and interventions that are being delayed and not being offered to individuals, babies, children, adults, during the optimal therapeutic windows because we’re not being identified until it’s too late to optimize outcomes.
I think this data is really important to get in front of the people that need the justification to do what we’re trying to do.
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