Healthcare professional holding up a transparency containing data Transforming health with genomic data

Dr. Freimuth and his colleagues develop novel technologies that enable clinicians to use a person's unique genomic data to individualize care. These technologies are critical to making genomic-based precision medicine a reality. They also enable new discoveries by making data computable and AI-ready.


Genomic medicine provides new opportunities to diagnose, treat and prevent disease. But new knowledge is discovered at a pace far exceeding the ability to share, manage and integrate that knowledge into clinical information systems.

Dr. Freimuth's Informatics of Genomic Medicine Laboratory at Mayo Clinic focuses on several areas of research. These include:

  • Identifying more scalable, efficient methods for implementing genomic-based clinical decision support (CDS) rules within a health system and creating ways to share genomic CDS rules between systems.
  • Building systems to enable researchers to evaluate the medical outcomes of genomic-guided therapy decisions.
  • Developing industry-wide standards, including data models, terminologies and message formats, which facilitate the exchange of clinical genomics data and make it AI-ready.
  • Improving methods for returning clinical genomic data to patients and providing web-based access to genomic treatment guidelines on mobile devices.

The goal of this research is to develop genomic clinical decision support tools. These can enable care providers to understand and make use of a patient's unique genomic data by providing recommendations based on clinical practice guidelines and up-to-date knowledge bases.


Dr. Freimuth's lab works with groups inside and outside of Mayo Clinic to study methods, tools and systems for managing genomic information.

Mayo Clinic resources

Research networks and projects

Professional organizations

Standards development