In drugs, “uncommon” is usually used to explain situations that have an effect on comparatively few folks. However if you work in healthcare lengthy sufficient—particularly on the very starting of life—you notice uncommon illnesses should not uncommon in any respect.
As a neonatologist, I cared for newborns whose signs didn’t observe a well-recognized script. An toddler struggling to breathe. A child who couldn’t feed. A baby whose growth stalled with no clear clarification. Within the NICU, there isn’t a luxurious of time. Households are determined for solutions, and clinicians are making high-stakes selections with incomplete info.
Too usually, we handled what we might see whereas suspecting there was one thing deeper we couldn’t but identify. We ordered a large number of checks and introduced in specialists to seek the advice of, however days usually was weeks. Typically solutions got here, however usually they got here too late to alter the course of care.
These moments stick with you, and people are the moments that introduced me right here to GeneDx.
THE HIGH COST OF UNCERTAINTY
The phrase “diagnostic odyssey” is often utilized in healthcare, nevertheless it understates the fact for households. For sufferers with uncommon illness, the trail to a analysis usually stretches throughout years—marked by repeated hospitalizations, pointless procedures, and conflicting opinions. All of the whereas, illness progresses and the emotional and monetary burden on households quietly compounds.
For clinicians, that uncertainty is greater than irritating; it limits our potential to behave decisively. With no exact analysis, remedies are sometimes generalized reasonably than focused, care coordination stays fragmented, and households are left carrying the burden of unanswered questions. From a system perspective, the implications are vital: longer lengths of keep, greater prices, avoidable interventions, and missed alternatives for earlier, more practical care.
What makes this significantly difficult is that, more and more, we have now the instruments to do higher.
Genomic drugs has remodeled our potential to establish the underlying causes of illness—particularly in pediatrics and uncommon situations the place conventional diagnostic approaches fall brief. When used early, genomic testing can shorten the trail to solutions from years to weeks, days, and even hours. It will probably inform medical selections, information care planning, and assist households perceive what lies forward. Over the previous couple of years, genomic expertise has developed. Prices and turnaround time have declined considerably, shifting genomics from a theoretical resolution to a viable software in on a regular basis medical follow.
Now, it’s a matter of accelerating consciousness and broadening entry to all sufferers who may benefit.
OPEN TESTING ACCESS
As Uncommon Illness Month continues, the query is not whether or not we are able to diagnose uncommon illness extra successfully, however whether or not we’re keen to make these instruments a part of routine care.
In different areas of drugs, advances that enhance accuracy and outcomes ultimately turn into customary follow. Normal new child screening, imaging applied sciences, and medical protocols didn’t stay non-compulsory as soon as their worth was clear. They grew to become embedded in care.
Genomics is at the same inflection level.
The chance earlier than us is just not merely technological—it’s systemic. Integrating genomics earlier into care pathways requires considerate implementation, clinician help, payer alignment, and real-world proof. It requires collaboration throughout well being techniques, medical societies, advocacy teams, and policymakers. And it requires a shared understanding that earlier, extra exact diagnoses should not an added further—they’re foundational to good drugs.
A RARE OPPORTUNITY
Uncommon illness challenges healthcare to be higher—extra exact, extra compassionate, and extra proactive. It forces us to confront the boundaries of conventional diagnostic fashions and to rethink when and the way we deploy the instruments now at our disposal.
For me, this work is deeply private. It’s formed by years on the bedside, by conversations with households looking for solutions, and by a perception that uncertainty shouldn’t be the default place to begin of care. Over the course of my profession, I’ve labored throughout almost each layer of the healthcare system—as a practising doctor, a well being system associate, and a medical chief inside payer and innovation organizations.
I’m bringing that have with me as I assist usher in the way forward for genomic drugs at GeneDx. Right here I see a uncommon alternative to assist transfer genomics from the margins of drugs to its basis, to shorten diagnostic journeys which have gone on far too lengthy, and to construct a healthcare system that delivers readability when it issues most.
Ending the diagnostic odyssey is just not about expertise alone. It’s about belief. It’s about giving clinicians the arrogance to behave and households the solutions they deserve. And it’s about recognizing that uncommon illness is just not a distinct segment drawback, however one thing that impacts 1 in 10 Individuals and thus, touches all of us.
Linda Genen, MD, MPH, is chief medical officer of GeneDx.
