Inside every person are nearly 3 billion DNA base pairs, trillions of cells and microbes, thousands of genes and hundreds of thousands of proteins and other key molecules — a vast collection of data holding clues to health and disease.

At Mayo Clinic's Center for Individualized Medicine, a digital transformation is equipping clinicians with tools to analyze this data and unlock critical insights for patient care. This advancement has the potential to enhance diagnoses and treatments and improve overall patient outcomes.

This shift is expanding the focus beyond traditional measures like blood pressure and cholesterol. Clinicians and scientists are now exploring genetics (genomics) to understand DNA; proteins (proteomics) that drive cellular functions; chemical changes (metabolomics) that reveal how the body responds to diet and environment, along with other biological characteristics. Together, these details provide a fuller picture of a person’s health.  

Each patient’s dataset is massive, containing layers of information that reveal how the body functions at a deeper level. When analyzed collectively, these elements help experts identify patterns and gain new insights into health and disease.  

But gathering this data is only the beginning. As these datasets grow larger and more complex, Mayo's experts are developing and leveraging digital tools to transform raw data into actionable insights.  

Digital Omics powers precision medicine

Leading these efforts is Mayo Clinic's Digital Omics pillar team, co-directed by Eric Klee, Ph.D., the center's Everett J. and Jane M. Hauck Midwest Associate Director, Research and Innovation.  "Omics" refers to the characterization and counting of different biological components — such as genomics, proteomics and metabolomics — and how they are interconnected to influence health.  

"We're giving clinicians the tools they need to connect the dots and make the right decisions for patients," Dr. Klee says.  

One of their key innovations is the Omics Data Platform, a digital library housed in the Mayo Clinic Cloud, which safely stores and organizes the omics data so clinicians and researchers can quickly access this valuable resource. It has reduced many of the barriers to access and created a fast and reliable method for omics data exploration. With tools like the Omics Data Explorer, clinicians can investigate genetic data and quickly identify new insights into the nature of disease. This can potentially lead to faster diagnoses and more targeted treatment options. 

The team also developed a tool called SAVI PI to help doctors and researchers interpret inherited genetic variation and better understand how specific genes may influence a patient's condition. Another Mayo-built platform, MINERVA, links genetic data with clinical information. This allows researchers and clinicians to explore the relationship between genetic variation and patient traits. 

As part of Mayo Clinic's commitment to responsible data stewardship, leaders are working to form an omics data subcommittee to oversee how genomic data is managed and used. The subcommittee will establish clear guidelines so all stakeholders understand their responsibilities for data access and usage. This framework will enhance collaboration, protect patient privacy and ensure ethical data use in research and clinical settings. 

To support clinical data integration, Dr. Klee and his team have launched a "roadshow" to introduce these SAVI PI and MINERVA digital tools to medical and research teams across Mayo Clinic. Through demonstrations and hands-on sessions, they show how the platforms can help them streamline data access and support better patient care. 

Advancing patient care with AI-driven tools 

Meanwhile, Cherisse Marcou, Ph.D., co-director of the center's Digital Omics Program and co-director and vice chair of Information Technology and Bioinformatics in the Clinical Genomics Laboratory, is focused on bringing these advancements directly into patient care. Her team has created an artificial intelligence-driven tool that helps specialists simplify genomic test selection and accelerate genomic data analysis and interpretation.  

Known as the Genetic Optimization and Appropriateness of Testing Tool, or GOATT, this innovation is used by laboratory experts to automate the summarization of important and relevant patient information across the electronic medical record into a concise format. Access to this comprehensive patient clinical summary helps ensure that the right test is ordered for the right patient at the right time. Ultimately, it enables more complete and personalized analysis and interpretation of complex genomic results. 

Dr. Marcou also collaborates closely with clinicians and laboratorians to integrate complex genomic data into Mayo Clinic's electronic health records. 

"Embedding genomic data into the patient's chart in a way that is easy to locate and access — right there, when and where it is needed — will assist doctors in making important decisions and advance the future of genomically informed medicine" she says. "For patients waiting for answers, this access could potentially mean less time spent in uncertainty and quicker guidance on treatment and management options." 

Dr. Klee notes that making these innovations part of routine care is a long-term goal. 

"We hope to make this the standard of care," Dr. Klee says. "We're building a future where precision medicine is no longer the exception but the expectation. We're giving providers and researchers the tools to make the right decisions, and quickly explore new ideas.” 

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