Rare disease: Our $1 trillion healthcare reform opportunity

Every year in the United States, thousands of families face a devastating reality: Their child has a rare disease, but they won’t know it until it’s too late for effective intervention. Thirty percent of children with rare diseases don’t live to see their fifth birthday.  

For too long, we’ve relied on limited newborn screening panels that vary from state to state, waiting until symptoms are severe and irreversible before acting. This approach is not only medically irresponsible, it’s fiscally unsound. Experts estimate rare diseases cost the U.S. healthcare system $1 trillion annually. Beyond the cost to our healthcare system, families too often find themselves in the position of becoming medical experts just to care for their child, taking them away from work and other loved ones, creating an immeasurable burden on the entire family. 

As professionals who have spent their entire careers at the intersection of science, policy, and innovation, we believe we are standing at a pivotal moment where the status quo is no longer acceptable. We must approach diagnosing rare diseases at birth differently via genome sequencing. The science has never been more promising. The economics have never made more sense. And the human cost of inaction has never been higher.  

EARLY DIAGNOSIS, EARLY TREATMENT 

Earlier diagnosis of rare diseases is not a luxury—it is a moral and financial imperative for modernizing our health system. Take the case of KJ, a baby treated at the Children’s Hospital of Philadelphia. Born with a deadly genetic disease called CPS1 deficiency, KJ was diagnosed early and became one of the first children to receive gene therapy tailored to his specific mutation.  

That treatment didn’t just save his life. It also likely saved millions in long-term healthcare, special education, and disability costs that the system would otherwise have shouldered for decades. This is the future we should be building toward: one where precision medicine is equitable, made possible by genomic newborn screening and next-generation gene therapies. One that prevents suffering and reduces the strain on public and private healthcare dollars alike.  

 We already screen every baby born in the U.S. for certain conditions. But our current panel only scratches the surface. Thousands of serious, treatable genetic disorders go undetected every day because we haven’t modernized our approach. We can change that. We believe in a future where a single, affordable, and actionable genomic newborn screening at birth can identify hundreds of early-onset genetic conditions with established therapies and treatments. This allows for timely intervention that not only saves our healthcare system valuable resources but, most importantly, spares families unnecessary suffering.    

Let’s be clear: Earlier diagnosis leads to better outcomes. Children with spinal muscular atrophy, for example, can now receive treatment in the first weeks of life that dramatically improves survival and quality of life. That’s only possible when they are diagnosed before symptoms begin. Delay by even a few months leads to expensive and tragic outcomes. 

POLICY CHANGES 

We need leadership to ensure genomic newborn screening is available to every child. I applaud Florida State Representative Adam Anderson for championing groundbreaking initiatives in newborn screening by sponsoring the Sunshine Genetics Act (HB 907), which is establishing free, opt-in whole genome sequencing for newborns in Florida. Public-private partnerships, federal investment in data infrastructure, and updates to newborn screening policy can all move the needle without increasing the deficit.  

We’re already seeing progress with the recently announced BEACONS initiative—the country’s first multi-state genomic newborn screening initiative. Funded by a $14.4 million award from the National Institutes of Health Common Fund Venture Program, this program is laying the early groundwork for integration of whole genome sequencing into existing state newborn screening systems by examining the feasibility of incorporating genomic newborn screening into the public health system. BEACONS is just the beginning of a future where we envision a national standard for genomic sequencing at birth, grounded in early intervention, which can transform the lifetime health of the next generation of Americans.

This transformation is about unleashing the power of American innovation in partnership with the families, clinicians, and researchers who are working tirelessly to transform care. It’s about enabling the next generation of gene editing and cell therapy technologies to succeed by ensuring we catch the diseases they can treat early enough to make a difference.  

Importantly, we have the support of policymakers on both sides of the political aisle. Representatives Mike Simpson (R-ID), Kelly Morrison (D-MN), Nick Langworthy (R-NY) and Kim Schrier (D-WA) reintroduced the Newborn Screening Saves Lives Reauthorization Act. This legislation was moved forward in September to the full committee. Senators Roger Wicker (R-MS) and Maggie Hassan (D-NH) continue to champion the issue on the Senate side. The bipartisan bill will renew and strengthen existing newborn screening programs.  

This bill is the first step. The next step is ensuring all newborns have access to the latest genetic tests so we can screen for the full range of treatable rare diseases and genetic conditions. The Genomic Answers for Children’s Health Act, which is awaiting introduction in Congress, will be crucial to these efforts as this legislation would further increase access to critical genomic testing. 

CHILDHOOD HEALTH MUST BE ADDRESSED 

The current drumbeat of the U.S. government is driven by calls for efficiency and a childhood health crisis that must be addressed. Republican lawmakers have long championed policies that are fiscally responsible, pro-innovation, and pro-life. Supporting expanded early diagnosis of rare diseases is squarely aligned with these values. It reduces long-term entitlement spending, encourages market-based innovation, and gives every child a fighting chance at life.    

As policymakers debate the future of healthcare and innovation in America, we urge them to look closely at the rare disease community. What they’ll find is not just a population in need, but a blueprint for smarter, more sustainable, and more compassionate healthcare. 

The tools are here. The evidence is clear. The time is now.    

Britt Johnson, PhD, FACMG is the SVP of medical affairs at GeneDx. Katherine Stueland is the CEO of GeneDx.  

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