Bioinformatics architecture for integrating genomics data into Electronic Health Records.

BRUNNER, MAURICIO; BUTTI, MATIAS; MENAZZI, SEBASTIAN; CHANFREAU, HERNAN; TAJERIAN, MATIAS; QUIROGA, ALFONSO; OTERO, PAULA; LUNA, DANIEL R; BENITEZ, SONIA

Congreso; MEDINFO 2023; 2023

The adequate management of patients’ genomic information is essential for any health institution pursuing the Precision Medicine model. Here we approach a bioinformatic architecture that allows the Institution to store its whole genetic test data in a scalable database, and also the integration of that genetic data with the Electronic Health Record through a Clinical Decision Support System. The system complements patient care by suggesting referral to genetic counseling for patients who are potentially at risk of hereditary breast/ovarian cancer, and allowing for proper follow-up of patients with pathogenic variants in BRCA1 or BRCA2 genes. The implemented solution uses the FHIR standard and genetic nomenclatures from the Human Genome Variation Society and the HUGO Gene Nomenclature Committee. The architecture is flexible enough to allow any other health institution to integrate -to their information ecosystem- the whole solution or some of the modules according to its degree of digitization progress.