SMART on FHIR Genomics

SMART on FHIR Genomics began with efforts from the SMART Health IT team working with ONC and HL7 to assess opportunities for standards-based clinical genomics SMART on FHIR applications.

Due to the size, complexity, and domain-specific workflows for generating and annotating raw genomic data, care must be taken to ensure the right information is available to patients, clinicians, and researchers to enable precision medicine. 

A domain analysis documenting clinical genomic data flows and use cases was created, along with new FHIR extensions, profiles, and Implementation Guides (see http://build.fhir.org/genomics.html). SMART on FHIR can greatly aid in clinical decision support and promoting findability, interpretability, and reusability of patients’ genomic findings. As such, genomics has become a rapidly-growing area for app development. Some open source FHIR Genomics apps are listed in the SMART App Gallery under the “Genomics” category.

As our understanding of the clinical impact of genomics (and other -omics) data matures, so too will the standards and methods that are used to communicate these findings to improve care. Our team continues to work with HL7, ONC, and the genomics research community to document best practices and iterate on guidance.

Further Reading:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141039/

https://www.nature.com/articles/s41525-020-0115-6

https://www.healthit.gov/topic/sync-genes