Beyond "Rare": Rethinking the Diagnostic Odyssey at our GenAI x rare disease event

The term “rare disease” rolls off the tongue easily, a neat label for conditions affecting a small percentage of the population. But for the millions navigating the confusing, often isolating path toward a diagnosis, “rare” can feel less like a description and more like a dead end.[1][2][3] It suggests something inherently unknowable, a medical enigma destined to remain unsolved.

Yet, as Dr. Laurel Crosby Delof from the Stanford Genome Technology Center powerfully argued at March’s recent GenAI x Rare Disease event at UC Berkeley, perhaps that term itself obscures the real problem.[4][5][6][7] What if these aren’t inherently unknowable conditions, but solvable mysteries waiting for the right approach?

Dr. Crosby, a network biologist whose path led from microbial ecology to the intricate systems of human health, was one of the panelists at our event at UC Berkeley.[4][6][8] She is challenging the very foundation of how we approach these conditions.

She introduced a compelling term: “Obscuropathy.” It means “there is an answer, we just don’t know what it is yet.” This simple shift in perspective reframes the challenge from one of inherent rarity to one of solvable complexity, demanding a different kind of thinking; thinking like a solver.

The Labyrinth of the Diagnostic Odyssey

For countless patients, finding a diagnosis isn’t a straightforward journey but a relentless “diagnostic odyssey.”[9][10][11][12] It’s a frustrating process of years spent undergoing tests and seeing multiple specialists.[9][10] A path that, research shows, often takes nearly five years and involves visits to seven or more physicians before an accurate diagnosis is reached.[9][10].

What makes this odyssey so tough? Dr. Crosby pointed to issues within the system. Doctors have limited time and specialized training, meaning they rarely encounter these specific rare conditions among the thousands that exist.[2][3][9][13] Plus, the system is often reactive. As she put it, “Think about how sick you have to be for them to order genetic testing.”

Studies back this up, showing delays stem from issues like low awareness among general practitioners, limited access to integrated care teams, and a shortage of specialists.[2][3][9][13].

Researchers Facing Their Own Walls

Researchers, like Dr. Crosby, also face major walls when trying to understand these obscuropathies. Accessing patient data, which is essential for this work, is often tangled in layers of institutional requirements that, while necessary, can be cumbersome.[14][15][16][17][18]

This involves things like navigating HIPAA privacy rules, getting ethics approvals for even small study modifications, and setting up data transfer agreements.[14][15][16][17][18] Unlike clinicians, who can discuss things with patients freely, researchers operate under much stricter protocols.[15][18] These strict rules, meant to protect patients, can inadvertently hinder the speed of scientific progress.[14][17]

Funding is another big hurdle. Getting money for new rare disease research is really tough.[13][19][20][21][22][23][24][25] Often, researchers need early results to even apply for grants, but it’s hard to get those results without money in the first place. Plus, the way research careers usually work focuses on publishing findings after the work is done, which can make things take longer. Sometimes, this pushes researchers to study things that are easier to access, like cells in a lab, instead of directly studying people.

These money problems are widely known; recent reports show that changes in research funding can really hurt rare disease investigations.[19][26][27]

A System Designed for Silos

Dr. Crosby’s core message resonated deeply: our current system often creates silos between patients, clinicians, and researchers.[1][13][28] “We built it this way,” she observed, referring to the institutional and procedural barriers that impede collaboration and information exchange; precisely what’s needed to solve complex medical mysteries.[13][28]

A New Framework: Accuracy and Efficiency

So, if the system is part of the problem, how do we reimagine it? Dr. Crosby proposed focusing on two strategic pillars:

Accuracy (Precision Data): This means going beyond simple labels, like calling something “Chronic Fatigue Syndrome” just based on symptoms. The goal is to find the real underlying cause. This requires looking very closely at each patient’s unique information â€“ their full story, symptoms, diet, and exposures, combined with detailed biological data like genetics, biomarkers, and other test results.[4]

Efficiency (Communication & Interaction):This means getting the right information to the right people quickly. How do patient details and samples reach researchers easily? How do test results get back to the doctor fast? Dr. Crosby pictures researchers analyzing complex data and giving doctors clear insights to make the diagnosis sooner. It’s about smart teamwork.

Solving One Case at a Time

Dr. Crosbyâ€™s ultimate strategy isn’t about boiling the ocean, but about meticulously solving one case at a time. “If you solve the case and I solve a case and we all solve a case, we’re going to get through all 10,000 of these rare diseases,” she proposed. Each solved case provides a model, a pattern to recognize. She envisions a future akin to “GitHub for medicine,” where these validated models and the logic behind them are shared, allowing the community to build upon collective knowledge.

This idea of sharing knowledge, like a medical “GitHub,” aligns with open science efforts and groups working on data sharing, such as the Global Alliance for Genomics and Health (GA4GH).[28][29][30][31][32] It’s an ambitious goal, but building this shared understanding, one solved case at a time, offers a practical and truly hopeful path forward.

Crucially, this requires embracing the data. When asked about prevention versus cure or the validity of popular health trends like intermittent fasting, Dr. Crosby’s consistent refrain was, “Show me the data.” General advice often fails the individual. Understanding your specific biology, your genetics, your exposures is key.[4]

Marching Toward Clarity with AI as an Ally

Dr. Crosby’s talk really shone a light on the systemic and data problems, but the solutions she brought up â€“ things like bringing data together, digging deeper into analysis, making communication smoother, and creating shared platforms â€“ are exactly where AI can make a huge difference.[23][33][34][35][36] AI is great at handling all that complex patient data, spotting subtle patterns we might miss, helping people from different disciplines talk to each other, and could even help create that medical “GitHub” mentioned.[23][33][34][35][36]

At March, we are committed to building a community where patients feel heard, where their observational data is valued, and where insights from collective experience and cutting-edge research converge. Dr. Crosbyâ€™s perspective reinforces our belief. Together we can transform the journey through obscuropathy into a clearer path toward answers and better health.

Sources:

Beyond “Rare”: Rethinking the Diagnostic Odyssey at our GenAI x rare disease event

The Labyrinth of the Diagnostic Odyssey

Researchers Facing Their Own Walls

A System Designed for Silos

A New Framework: Accuracy and Efficiency

Solving One Case at a Time

Marching Toward Clarity with AI as an Ally

Generative AI X Rare Disease Innovation Workshop

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