Genomic sequencing is rapidly changing health care and is becoming a routine part of electronic health records (EHRs). But while today’s EHRs can support common clinical decision support (CDS) tools — like medication or allergy alerts — they often fall short when it comes to using genetic information to guide care.

The Precision Health Clinical Decision Support Platform, or PRECISION-CDS, is working to close that gap. Funded by the Disruptive Technology Empowering Precision Health (D-TECH) initiative, one of the four research focus areas of the Heersink School of Medicine, the project is building a scalable, standards-based platform that brings genomic insights into clinical workflows to improve care and patient outcomes.

Bridging the gap with PRECISION-CDS

Every hospital uses its own version of an EHR system, making it difficult to share tools between systems. This lack of compatibility creates challenges in disseminating these tools widely. However, new informatics standards that allow sharing of EHR data and CDS functions are being adopted more often, helping doctors to better understand which genetic changes can impact health and treatment.

“Genomic sequencing is getting cheaper and more valuable, and it’s becoming a standard part of EHRs,” said Tiago K. Colicchio, Ph.D., assistant professor in the Department of Biomedical Informatics and Data Science and lead investigator for PRECISION-CDS.

“To advance precision health, PRECISION-CDS will leverage CDS standards and precision health guidelines to develop and deploy a new standards-based, scalable, integrated genomic decision support platform that is EHR agnostic and scalable.”

Colicchio along with a team of expert co-investigators, will collaborate with UAB experts in genetics and pharmacogenomics to create an automatically maintained database that stays up to date with the latest medical guidelines for actionable genetic variants. This database will also leverage CDS standards based on Fast Healthcare Interoperability Resources (FHIR), which is widely supported by all major EHR vendors, making it easier to connect outside tools with existing EHR systems.

The study will also work closely with UAB providers to apply user-centered-design methods to design tools that are intuitive and effective in supporting genetic and pharmacogenomic decision-making. These tools will be tested in realistic simulation settings to measure their effectiveness and support a smooth implementation across UAB following its transition to a new EHR system, Epic in 2027.

Transforming UAB’s digital health future

EHRs are designed to support a wide range of workflows for thousands of clients.

“Commercial EHRs like Epic must have the breadth to support workflows for thousands of clients,” explained Colicchio. “But by doing so, they often lack the depth needed to address individual needs. Clinical informatics research helps fill these gaps.”

PRECISION-CDS builds on this foundation and will contribute to advancing UAB research and patient care in several keyways, including:

• Automating several steps of the genetic counseling workflow that currently rely on manual data entry
• Creating a digital repository of evidence-based guidelines covering 38 genetic conditions and up to 66 drug-gene interactions, based on guidance from national expert organizations.
• Developing a platform for future CDS development in domains beyond genomics
• Disseminating UAB-driven innovations to other health systems as part of future extramural grants

“This project will empower informatics and clinical researchers to evaluate the effectiveness and implementation of state-of-the-art CDS tools at the point of care,” said Colicchio. “This will allow UAB to go from being a consumer of digital health products to becoming a leader in the development of digital health innovations.”

The following co-investigators contribute to PRECISION-CDS: Pongtawat Lertwilaiwittaya, M.D., medical resident in the Department of Genetics; Taylor McClinchey, M.S., LCGC, lead genetic counselor in the Department of Genetics; Josh Cortopassi, PharmD, pharmacogenomics expert; Blake Goff, PharmD, pharmacogenomics expert; Jakir Masud, Ph.D., postdoctoral fellow in the Department of Biomedical Informatics and Data Sciences; Brandon Sharp, informatics architect in the Department of Biomedical Informatics and Data Sciences; Joseph Bryant, informatics architect in the Department of Biomedical Informatics and Data Sciences.