Pharmacogenomics: Current Actionable Variants

Pharmacogenomics (PGx), one of the several tools of precision medicine, has been slowly implemented in the clinic during the past decades. This process generally starts with direct and indirect genotype-phenotype associations of gene variants and drug efficacy, or adverse drug reactions, followed by replication and validation studies. Institutional efforts led by the PGx Research Network, The PGx Knowledge Base, and The Clinical Pharmacogenetics Implementation Consortium, mine all available data for further validation or research in additional populations. This data mining gives rise to a detailed classification of over 200 drug-gene pairs which, with enough documentation, may become part of a publishable guideline to aid clinicians in drug selection and dosing using genetics. The US Food and Drug Administration utilizes these guidelines to issue warnings and recommendations for specific drugs and their cautioning serves clinicians and pharmacists worldwide. Here, we aim to discuss the steps of this process and list existing actionable drug-gene pairs. Moreover, we describe the current status of PGx knowledge in populations from Mexico for actionable variants on the 19 genes listed by present PGx guidelines affecting 47 drugs. Our review collects current allele frequency information for these actionable variants, lists gaps of PGx information for relevant markers, and highlights the importance of continuing PGx research in Native and Mestizo populations. (REV INVEST CLIN. 2020;72(5):271-9)

Pharmacogenomics: Current Actionable Variants.

Pharmacogenomics (PGx), one of the several tools of precision medicine, has been slowly implemented in the clinic during the past decades. This process generally starts with direct and indirect genotype-phenotype associations of gene variants and drug efficacy, or adverse drug reactions, followed by replication and validation studies. Institutional efforts led by the PGx Research Network, The PGx Knowledge Base, and The Clinical Pharmacogenetics Implementation Consortium, mine all available data for further validation or research in additional populations. This data mining gives rise to a detailed classification of over 200 druggene pairs which, with enough documentation, may become part of a publishable guideline to aid clinicians in drug selection and dosing using genetics. The US Food and Drug Administration utilizes these guidelines to issue warnings and recommendations for specific drugs and their cautioning serves clinicians and pharmacists worldwide. Here, we aim to discuss the steps of this process and list existing actionable drug-gene pairs. Moreover, we describe the current status of PGx knowledge in populations from Mexico for actionable variants on the 19 genes listed by present PGx guidelines affecting 47 drugs. Our review collects current allele frequency information for these actionable variants, lists gaps of PGx information for relevant markers, and highlights the importance of continuing PGx research in Native and Mestizo populations.

Conocimientos y actitudes sobre encefalopatía hipóxico-isquémica e hipotermia terapéutica: Resultados de una intervención educativa / Knowledge and attitudes on hypoxic-ischemic encephalopathy and therapeutic hypothermia: Results of an educational intervention

Antecedentes: La asixia perinatal, producida al feto/neonato por hipoxia y/o hipoperfusión tisular, puede llevar a ence-falopatía hipóxico-isquémica (EHI). La hipotermia terapéutica (HT) es eicaz para tratar EHI moderada/severa. Objetivo: Determinar conocimientos y actitudes sobre EHI e HT del personal sanitario y estudiantes antes y después de una intervención educativa, Departamento de Pediatría, Hospital Escuela (HE), Tegucigalpa, 2019. Métodos: Estudio cuasi experimental. Médicos, enfermeras, estudiantes de grado y posgrado fueron invitados a participar mediante consentimiento informado. El ensayo consistió en evaluación pre-intervención (Fase 1), seguida de intervención educativa, video y documento enviados por aplicación WhatsApp, y evaluación post-intervención (Fase 2). Se registraron características sociodemográicas. Se evaluó conocimientos (Excelente, Muy bueno, Bue-no, Deiciente) y actitudes (Buena, Regular, Mala, Muy mala). Se midió el cambio (Delta Porcentaje) entre proporción de participantes de acuerdo a conocimientos y actitudes pre y post-intervención. Resultados: De 181 potenciales participantes, en Fase 1 participaron 147 (81.2%) y en Fase 2, 127 (70.2%). Inicialmente, 93.2% (137) demostró un conocimiento deiciente y actitud buena 38.0% (56), regular 28.0% (41), mala 32.0% (47). El conocimiento bueno aumentó en 561.2% (3.1% versus 20.5%), conocimiento muy bueno aumentó en 185.1% (4.7% versus 13.4%), conocimiento deiciente disminuyó en 35.9% (92.2% versus 59.1%). La actitud regular au-mentó en 37.0% (27.0% versus 37.0%), actitud mala disminuyó 30.4% (32.8% versus 22.8%). Discusión: La intervención educativa mejoró conocimiento y actitud en relación a HT y EHI. La HT disponible en HE puede mejorar el desenlace de EHI. Se recomienda fortalecer las medidas educativas institucionales sobre el protocolo de HT...(AU)

Patient Motivators for Emergency Department Utilization: A Pilot Cross-Sectional Survey of Uninsured Admitted Patients at a University Teaching Hospital.

BACKGROUND: During the past several decades, emergency department (ED) increasing volume has proven to be a difficult challenge to address. With the advent of the Affordable Care Act, there is much speculation on the impact that health care coverage expansion will have on ED usage across the country. It is currently unclear what the effects of Medicaid expansion and a decreased number of uninsured patients will have on ED usage. OBJECTIVE: We sought to identify the motivators behind ED use in patients who were admitted to a university teaching hospital in order to project the possible impact of health care reform on ED utilization. METHODS: We surveyed a convenience sample of uninsured patients who presented to the ED and were subsequently admitted to the inpatient setting. RESULTS: Our respondents sought care in the ED primarily because they perceived their condition to be a medical emergency. Their lack of insurance and associated costs of care resulted in delays in seeking care, in reduced access, and a limited ability to manage chronic health conditions. Thus, contributing to their admission. CONCLUSIONS: Affordability will reduce financial barriers to health care insurance coverage. However, efficient and timely access to primary care is a stronger determinant of ED usage in our sample. Health insurance coverage does not guarantee improved health care access. Patients may continue to experience significant challenges in managing chronic health conditions.