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.

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).

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.