Rare disease isn’t rare—it’s a healthcare blind spot

In medicine, “rare” is often used to describe conditions that affect relatively few people. But when you work in healthcare long enough—especially at the very beginning of life—you realize rare diseases are not rare at all.

As a neonatologist, I cared for newborns whose symptoms didn’t follow a familiar script. An infant struggling to breathe. A baby who couldn’t feed. A child whose development stalled without a clear explanation. In the NICU, there is no luxury of time. Families are desperate for answers, and clinicians are making high-stakes decisions with incomplete information.

Too often, we treated what we could see while suspecting there was something deeper we could not yet name. We ordered a multitude of tests and brought in specialists to consult, but days often turned into weeks. Sometimes answers came, but often they came too late to change the course of care.

Those moments stay with you, and those are the moments that brought me here to GeneDx.  

THE HIGH COST OF UNCERTAINTY

The phrase “diagnostic odyssey” is frequently used in healthcare, but it understates the reality for families. For patients with rare disease, the path to a diagnosis often stretches across years—marked by repeated hospitalizations, unnecessary procedures, and conflicting opinions. All the while, disease progresses and the emotional and financial burden on families quietly compounds.

For clinicians, that uncertainty is more than frustrating; it limits our ability to act decisively. Without a precise diagnosis, treatments are often generalized rather than targeted, care coordination remains fragmented, and families are left carrying the burden of unanswered questions. From a system perspective, the consequences are significant: longer lengths of stay, higher costs, avoidable interventions, and missed opportunities for earlier, more effective care.

What makes this particularly challenging is that, increasingly, we have the tools to do better.

Genomic medicine has transformed our ability to identify the underlying causes of disease—especially in pediatrics and rare conditions where traditional diagnostic approaches fall short. When used early, genomic testing can shorten the path to answers from years to weeks, days, or even hours. It can inform clinical decisions, guide care planning, and help families understand what lies ahead. Over the past couple of years, genomic technology has evolved. Costs and turnaround time have declined significantly, shifting genomics from a theoretical solution to a viable tool in everyday clinical practice.

Now, it’s a matter of increasing awareness and broadening access to all patients who could benefit.

OPEN TESTING ACCESS

As Rare Disease Month continues, the question is no longer whether we can diagnose rare disease more effectively, but whether we are willing to make those tools part of routine care.

In other areas of medicine, advances that improve accuracy and outcomes eventually become standard practice. Standard newborn screening, imaging technologies, and clinical protocols did not remain optional once their value was clear. They became embedded in care.

Genomics is at a similar inflection point.

The opportunity before us is not simply technological—it is systemic. Integrating genomics earlier into care pathways requires thoughtful implementation, clinician support, payer alignment, and real-world evidence. It requires collaboration across health systems, medical societies, advocacy groups, and policymakers. And it requires a shared understanding that earlier, more precise diagnoses are not an added extra—they are foundational to good medicine.

A RARE OPPORTUNITY

Rare disease challenges healthcare to be better—more precise, more compassionate, and more proactive. It forces us to confront the limits of traditional diagnostic models and to rethink when and how we deploy the tools now at our disposal.

For me, this work is deeply personal. It is shaped by years at the bedside, by conversations with families searching for answers, and by a belief that uncertainty should not be the default starting point of care. Over the course of my career, I have worked across nearly every layer of the healthcare system—as a practicing physician, a health system partner, and a clinical leader within payer and innovation organizations.

I’m bringing that experience with me as I help usher in the future of genomic medicine at GeneDx. Here I see a rare opportunity to help move genomics from the margins of medicine to its foundation, to shorten diagnostic journeys that have gone on far too long, and to build a healthcare system that delivers clarity when it matters most.

Ending the diagnostic odyssey is not about technology alone. It is about trust. It is about giving clinicians the confidence to act and families the answers they deserve. And it is about recognizing that rare disease is not a niche problem, but something that impacts 1 in 10 Americans and thus, touches all of us.

Linda Genen, MD, MPH, is chief medical officer of GeneDx.

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