Each year, millions around the globe embark on a long and arduous journey known as the diagnostic odyssey — a relentless search for answers that, for many, spans years, and for some, even decades. These individuals endure a seemingly endless cycle of medical consultations, inconclusive tests, and frequent misdiagnoses, all while grappling with symptoms that defy classification. Behind every undiagnosed condition is a person — a life suspended in uncertainty, a family yearning for clarity, and a future clouded by unanswered questions.
It is estimated that approximately 350 million people worldwide are affected by rare diseases, and for many, the road to diagnosis is fraught with delays and uncertainty. Studies have shown that it takes, on average, five to seven years to obtain an accurate diagnosis, with patients typically consulting five or more specialists along the way. For some, heartbreakingly, a definitive diagnosis remains elusive.
On Undiagnosed Day, we pause to honor the resilience, fortitude, and quiet heroism of these patients and their families — and to reaffirm the critical importance of scientific endeavors that can alter the course of their lives.
The Unseen Cost of Being Undiagnosed
The impact of remaining undiagnosed extends far beyond unanswered medical questions. It touches every aspect of a person’s life — physical health, mental well-being, financial stability, and emotional resilience. Without a clear diagnosis, patients are often left navigating a fragmented healthcare system, enduring ineffective treatments, and facing mounting medical expenses without a clear path forward. Families are forced to become relentless advocates, fighting for attention, resources, and hope.
The burden of being undiagnosed is not only personal but societal — a silent strain on healthcare systems and a stark call to action for all of us working in genomics and medicine. Recognizing this burden compels us to move faster, think deeper, and act more boldly to close the gap between uncertainty and understanding.
Variant Interpretation: The Key to Unlocking Diagnoses
Behind every diagnosis lies a crucial piece of the puzzle: variant interpretation. Understanding the clinical significance of genetic variants is essential for identifying the root cause of undiagnosed diseases. Without precise variant interpretation, critical genomic information remains hidden — buried in complex datasets, lost within millions of scientific publications, or trapped behind technical and financial barriers.
Variant interpretation transforms raw genomic data into life-altering insights.
It bridges the profound divide between a patient’s DNA and a definitive diagnosis, empowering physicians to unveil solutions that were once invisible. For many, the identification and classification of even a single variant can mark the end of a prolonged and painful odyssey — and the beginning of informed care, targeted treatment, and renewed hope.
This work is not merely scientific. It is deeply human.
It turns uncertainty into understanding, transforms fear into action, and replaces helpless waiting with empowered knowing.
Every variant curated carries within it the potential not just to change a life — but to save it.
The Heart of Our Mission: Making Genomic Information Actionable
At Genomenon, our mission to make genomic information actionable is not simply a corporate vision — it is deeply personal.
Dr. Mark Kiel, founder of Genomenon, and his twin brother faced their own daunting diagnostic odyssey, both born with ectodermal dysplasia, a rare genetic disorder. For years, they endured misdiagnoses, confusion, and a profound lack of understanding from the medical community, leaving them without the care or answers they so desperately needed.
It was only after a geneticist accurately identified their condition that they were finally connected with the National Foundation for Ectodermal Dysplasias (NFED) — a pivotal moment that reshaped the trajectory of their lives.
Through this journey, Mark recognized a systemic issue: although a wealth of knowledge about rare diseases existed, it was buried deep within scientific literature, scattered across decades of fragmented publications. The absence of an efficient means to access and interpret this information meant that critical insights remained hidden, delaying diagnoses and prolonging suffering.
Determined to bridge this gap, Mark set out to create a solution — a tool that would render genomic knowledge accessible, searchable, and actionable to clinicians and researchers around the world.
This vision led to the creation of Mastermind®, a genomic intelligence platform purpose-built to organize the world’s genomic evidence and deliver expertly curated variant insights at scale.
Today, Mastermind powers faster, more accurate diagnoses, helping clinicians and families around the globe move from uncertainty to clarity.
Moving Forward Together
The diagnostic odyssey should not define a lifetime — and it should never be endured in silence. We’re proud to contribute to the global effort to end this journey of uncertainty, one carefully curated variant, one discovery, and one life-changing answer at a time, and believe that every patient deserves a diagnosis — and that every diagnosis begins with understanding the genome.
The work we undertake each day is fueled by a singular conviction: that genomic intelligence, when made accessible and actionable, has the power to close the gap between patients and the answers they deserve.
We are committed to empowering clinicians and researchers with the tools they need to end diagnostic odysseys faster. Our Mastermind Genomic Intelligence Platform was created to make critical genomic evidence easier to access, interpret, and apply — because every patient searching for answers deserves the benefit of the full breadth of genomic knowledge. To learn more about how Mastermind can support the search for answers, visit here.
