For patients with rare or uncommon diseases, the path to diagnosis is often long and uncertain. In these situations, clinical laboratory testing plays a critical role in finding answers. Clinicians depend on precise lab data to guide decision-making, especially when standard diagnostic pathways are inconclusive.

While each rare disease affects relatively small groups of people, they collectively impact millions of patients worldwide, and every patient deserves an answer.

Collaboration as a core capability

Creating diagnostic tools for these rare diseases comes with extra challenges, making collaboration essential. Delivering accurate answers depends on integrating the expertise of clinicians, laboratorians, and data scientists to transform fragmented pieces of information into actionable insights. Progress happens when key principles converge:

• Data capabilities: From patient-reported symptoms and physical measurements to biospecimen testing and diagnostic imaging, data has for centuries informed how we research, classify, diagnose, and treat disease. The widespread adoption of electronic health records has enabled easier collection and storage of health data, and wearable technologies continue to expand data sources. Now, artificial intelligence and other advanced computational and data practices are empowering clinicians and researchers to analyze this growing repository of data to look for patterns that can give clues to possible solutions. This is especially true in cases of rare diseases.
• Clinical knowledge: Direct clinical experience provides essential context in the laboratory, especially for rare diseases. Working directly with clinicians to understand the signs and symptoms real patients present with, and other diseases in the differential diagnosis, helps laboratorians define the diagnostic tools needed. Clinical knowledge ensures biomarkers are meaningful, distinguishes between similar conditions, and ensures tests provide information that can guide next steps. It also determines when tests should be used, how they integrate with other tools, and how findings are applied, ensuring diagnostics deliver timely, relevant, actionable answers rather than isolated data.
• Laboratory science: Clinicians might understand what needs to be measured, but laboratorians know how to measure it reliably. They must understand complex biological processes and translate this knowledge into creating measurable, quantifiable data that can guide care and ensure it is done in a way that is accurate, precise, and consistent. They create methods to detect the biomarkers critical to identifying rare diseases, confirm that solutions measure the targeted biomarker correctly, and work to make sure it demonstrates real-world performance.

Innovation in diagnostics happens when these three elements work in concert. At Mayo Clinic Laboratories, that alignment is built into how we operate. Our collaboration with Mayo Clinic physicians — who routinely diagnose and care for patients with serious and rare conditions — provides critical insight into real-world clinical challenges. When combined with advanced data capabilities and specialized laboratory expertise, this approach helps translate complex clinical questions into diagnostic solutions that can make a meaningful difference for patients.

Global scope drives continued innovation

Combining this collaboration with Mayo Clinic Laboratories’ global reach helps further accelerate discovery. Often, answering one clinical question with a new test exposes other questions, driving continuous innovation.

With 28 million tests performed annually for clients worldwide, we can quickly start gathering robust, real-world data from diverse patient populations while also deepening our understanding of how results from new tests are used across different care settings. This scale reveals patterns and insights that drive further innovation and enable us to better support a broad range of healthcare professionals and their patients with advanced diagnostic expertise.

A patient-first approach fuels faster answers

At Mayo Clinic, the needs of the patient come first. In practice, this means that every workflow and every process is designed to deliver timely, actionable information to patients and their clinicians. The story of Isabel Dabrowski, a young dancer with an exceedingly rare blood disorder, highlights the importance of this approach. While the lab tests needed to diagnose and manage her condition are technically complex, our lab runs the tests daily because we know that the answers are needed immediately.

From innovation to answers for every patient

Advancing diagnostic solutions for rare conditions requires more than innovation. It demands alignment of purpose, expertise, and scale. By bringing together clinical insight, laboratory science, and advanced data capabilities, and amplifying them through global reach and real-world experience, Mayo Clinic Laboratories can swiftly move from unanswered questions to actionable answers. Grounded in a patient-first approach, this work ensures that even the rarest conditions receive the urgency and rigor they deserve. Ultimately, meaningful progress is measured not by the complexity of the test, but by how effectively it delivers clarity, confidence, and better outcomes for every patient.

Learn more about how Mayo Clinic Laboratories creates solutions for rare conditions.