Bioinformatics Architecture for Integrating Genomics Data into Electronic Health Records.

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.

Development, Implementation and Initial Results of CDSS Recommendations for Patients at Risk of Hereditary Breast Cancer.

Breast cancer represents 23% of all cancers diagnosed among women each year. BRCA1 and BRCA2 are tumor suppressor genes related to the most frequent form of hereditary breast and ovarian cancer, as well as other types of cancer. The aim of this work is to describe the development of Clinical Decision Support Systems (CDSS) for referral to genetic counseling in patients at increased risk of pathogenic variants in BRCA1 and BRCA2, and to describe results during the pilot study implementation (from January 5, 2021 to March 5, 2021). To achieve integration and system interoperability, we used FHIR and CDS-Hooks within the CDSS development. A total of 142 alerts were triggered by the system for 72 physicians in 98 patients. Results showed an acceptance rate for the recommendation of 2.1%, which could improve using intrusive alerts in all of the hooks.

Clinical Decision Support System for PIM in Elderly Patients: Implementation and Initial Evaluation in Ambulatory Care.

The high prevalence of PIMs in elderly is a major healthcare concern and indicates the need for medication monitoring systems. Most PIM CDSS have shown positive effects respecting PIM prescription but these results were more consistently in hospital settings compared with ambulatory care. We describe the post-implementation evaluation of a PIM CDSS for general practitioners (GP) in the ambulatory setting and explore GP interactions with the PIM alerts. The CDSS generated 3218 unique alerts and involved 2863 elderly patients. Benzodiazepines was the drug with the most alerts triggered. Only 129 (4 %) were opened by GP during patient appointments. We need to develop an understanding of how alerts should be designed and display information to support the workflow of general practitioners. Pos-implementation evaluations are the key of CDSS improvements.