Integrating Genomics into the EHR

For years, the "integration" of genomics into the Electronic Health Record (EHR) meant scanning a PDF and attaching it to the patient's chart. This data is dead. It cannot trigger alerts, it cannot be searched, and it cannot drive decision support.

The FHIR Standard

Fast Healthcare Interoperability Resources (FHIR) is the modern standard for healthcare data exchange. The FHIR Genomics implementation guide allows us to represent variants as discrete data objects.

Actionable Alerts

Once data is discrete, we can build rules. Imagine a patient is prescribed codeine. The EHR checks their CYP2D6 status (stored as a FHIR observation) and alerts the physician that the patient is an ultra-rapid metabolizer, preventing a potential overdose.