Development, Implementation and Initial Results of CDSS Recommendations for Patients at Juan Rosa a , Matias Tajerian a , Yael Zin a , Mauricio Brunner a , Natalia Lopez a , Alejandro Gaiera, a Matias Butti b,c , Sebastián Menazzi b,c , Hernan Chanfreau b,c , Daniel Luna a , Luciana Rubin a , Sonia Benitez a a Department of Health Informatics, Hospital Italiano de Buenos Aires, Argentina b GenomIT c Universidad Abierta Interamericana. Centro de Altos Estudios en Tecnología Informática. Buenos Aires, Argentina Abstract 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. Keywords: Electronic Health Records; Genomics; Decision Support Systems, Clinical. Introduction Breast cancer is the most common type of cancer in women around the world. Each year, 1.15 million cases are diagnosed, representing 23% of all cancers diagnosed among women [1,2]. The greatest challenge is to identify preventive strategies that reduce the morbidity and mortality associated with this disease. The discovery of BRCA1 and BRCA2 tumor suppressor genes has radically transformed our understanding of the genetic basis of breast cancer [3]. Germline mutations in BRCA1 and BRCA2 are responsible for 25% of the risk of familial breast cancer and therefore 5-10% of all breast cancers [4–6]. Breast cancer risk is not only increased in women but in men who harbor such variants as well [7]. In addition, pathogenic variants in BRCA1 and BRCA2 genes are associated with an increased risk of developing multiple types of tumors, such as cancer of the bile duct, bladder, esophagus, pancreas, prostate, stomach, melanoma, hematopoietic system, oral cavity or pharynx [8,9]. Pathogenic variants in BRCA1 and BRCA2 genes are the best-known genetic alterations involved in familial pancreatic cancer [10]. Identifying a hereditary cancer syndrome in the patient and/or his family, allows physicians to provide personalized care, cancer risk assessment, as well as preventive and screening strategies to reduce morbidity and mortality associated with the development of malignancies [7,11]. Genetic counseling may also be provided once a molecular diagnosis is established, since most forms of hereditary cancer, including BRCA variants, are autosomal dominant. The molecular test for BRCA genes is recommended by the National Comprehensive Cancer Network (NCCN) of the United States in patients who meet at least 1 of 7 criteria based on age, sex, ethnic group, type of breast cancer and family and personal history of cancer. The decision to indicate the test in individuals with a personal or family history of cancer requires an individual risk assessment and genetic counseling. If the patient meets NCCN criteria and has been evaluated in genetic counseling consultations, a test limited to BRCA (either full gene sequencing or specific ethnic-oriented variant testing) or a multi-genetic panel may be considered [7,11,12]. Currently, the large amount of new information the physician must know in order to attend to patients appropriately, added to the limited time assigned to consultations in most healthcare scenarios, can lead to the generation of medical errors [13]. In this setting, Clinical Decision Support Systems (CDSS) can provide active help. These systems represent one of the greatest benefits of Electronic Medical Records (EHR). In addition, there is evidence that they can influence the test request behavior of physicians [14]. The aim of this work is to describe the development and first results, during the pilot study implementation, of CDSS for referral to genetic counseling in patients at increased risk of pathogenic BRCA1 and BRCA2 variants. Methods Setting The Hospital Italiano de Buenos Aires (HIBA) is a non-profit healthcare academic center founded in 1853. It includes a network of two hospitals with 785 beds (200 for intensive care) and, approximately, 2,800,000 outpatient consultations per year. Since 1998, HIBA has run an in-house-developed health information system, which includes clinical and administrative data. It has been certified by the HIMSS as level 7 in the Electronic Medical Record Adoption Model, being the first hospital in Argentina to obtain this title. The EHR is a fully- implemented web based, problem oriented, patient centered record with customized functionalities depending on the level of care and terminology web services. The HIBA Hereditary Cancer Program (ProCanHe) is a team made up of physicians who research, test and apply strategies for the promotion, prevention and treatment of hereditary cancers, including those linked to BRCA1 and BRCA2 genes. Risk of Hereditary Breast Cancer MEDINFO 2021: One World, One Health – Global Partnership for Digital Innovation P. Otero et al. (Eds.) © 2022 International Medical Informatics Association (IMIA) and IOS Press. This article is published online with Open Access by IOS Press and distributed under the terms of the Creative Commons Attribution Non-Commercial License 4.0 (CC BY-NC 4.0). doi:10.3233/SHTI220092 340