Our research team has the goal to understand pharmacogenomics in Caribbean Hispanics. Pharmacogenomics studies how our genes may influence drug’s response. Unfortunately, Hispanics are underrepresented in pharmacogenomics studies. Our main drive is to set the groundwork to implement a Precision Medicine approach to improve pharmacotherapy for the benefit of Caribbean Hispanics.

Our group had published 20 articles to contribute to the knowledge of pharmacogenomics in Hispanics. We developed an algorithm to improve anticoagulation therapy in patients using warfarin (Coumadin) and are currently working to validate this algorithm in a double-blinded randomized study. We are also recruiting patients for an ongoing project that seeks to determine genetic factors involved in clopidogrel (Plavix) response in Caribbean Hispanics (Puerto Ricans, Cubans and Dominicans) (ClinicalTrials.gov Identifier: NCT03419325). Our goal is to perform for the first time, a genome-wide association study (GWAS) in a Hispanic group.

The University of Puerto Rico, Medical Sciences Campus accounts with several technologies that makes pharmacogenomics research possible in the island, including: Next Generation Sequencers (Ion Proton and Ion PGM), GeneChip arrays for DMET Plus and other platforms (microarrays), real-time PCR thermocyclers and others. We also collaborate with other talented scientists in the campus and outside Puerto Rico that help us with the data analysis and consulting. Our members had also established other collaborations with international groups in pharmacogenetics research including: PharmVar Consortium, Red Iberoamericana en Farmacogenetica (RIBEF) and Clinical Pharmacogenetics Implementation Consortium (CPIC).

Mission:

To conduct meritorious research projects and scholarly activities in order to foster the adoption of a Precision Medicine paradigm in the Commonwealth of Puerto Rico that can help reduce current disparities of care and bring the expected benefits of the novel "omics" technologies to the population we serve.

Goals:

  1. Develop an educational program in PGx and Precision Medicine that is aligned to ACPE standards of accreditation, which consists of both in-class and online courses, didactic materials and modules for distance learning education.
  2. Create databases of fully annotated clinical and genomic markers of medically actionable pharmacogenes as well as repositories of specimens (e.g., gDNA, plasma, PBMCs) from Caribbean Hispanics for future "Omics" studies to guide therapy in Puerto Rico.
  3. Develop "Panomic" analysis to diagnosis and prevention at medical settings within the commonwealth of Puerto Rico (e.g., cis-eQTLs, Proteomics, Transcriptomic, Metagenomics, etc.) - New frontiers in Precision Medicine (PM).
  4. Assessment of the Clinical Utility of Pharmacogenetic Testing in a Comprehensive Medication Management Service. Conduct research projects to implement a new approach driven by PGx-guided recommendations on potential drug-genes (DxG) and drug-drug-gene (DxDxG) interactions at patient level, in support of the medication therapy management (MTM) services and other TDM strategies. 
  5. Incorporate "Omics" technologies and precision medicine paradigm into the SoP initiative for the adoption of an Antimicrobial Stewardship program.
  6. Expand current investigations in cardiovascular and mental health conditions to include targeted therapies in oncology and the management of addition (opioids, cannabinoids, etc.).
  7. Sub-phenotyping for relevant interpretation/ applications (adoption of EHR-based phenomics). Develop internet/mobile-based clinical decision support tools (CDS) for a successful adoption of the PM paradigm at medical settings in Puerto Rico.
  8. Perform locus-specific ancestry analysis and admixture measures at continental and sub-continental level in the Caribbean Hispanic population to control and adjust for population stratification in association tests.
  9. To disseminate our work among multiple stakeholders from different scenarios, including outreach activities to the community.
  10. To work closely with domestic and international societies, consortiums and organizations (e.g., CPIC, PharmGKB, PharmVar) in order to develop or update current public databases and guidelines for PGx implementation that can incorporate relevant information to guide therapy in Caribbean Hispanics and, hence, fill in existing gaps and reduce healthcare disparities.
  11. To develop novel PGx-guided algorithms and genotyping panels/arrays customized to the unique genomic characteristics and ancestral diversity of the Caribbean Hispanic patients.