RESUMEN
The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems around the world. Its detailed descriptions of clinical abnormalities and computable disease definitions have made HPO the de facto standard for deep phenotyping in the field of rare disease. The HPO's interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data. It also plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data. Since the HPO was first introduced in 2008, its users have become both more numerous and more diverse. To meet these emerging needs, the project has added new content, language translations, mappings and computational tooling, as well as integrations with external community data. The HPO continues to collaborate with clinical adopters to improve specific areas of the ontology and extend standardized disease descriptions. The newly redesigned HPO website (www.human-phenotype-ontology.org) simplifies browsing terms and exploring clinical features, diseases, and human genes.
Asunto(s)
Ontologías Biológicas , Biología Computacional/métodos , Anomalías Congénitas/genética , Predisposición Genética a la Enfermedad/genética , Bases del Conocimiento , Enfermedades Raras/genética , Anomalías Congénitas/diagnóstico , Bases de Datos Genéticas , Variación Genética , Humanos , Internet , Fenotipo , Enfermedades Raras/diagnóstico , Secuenciación Completa del Genoma/métodosRESUMEN
Astounding progress has been made in the identification and characterization of genes for hearing loss, which has led to an increasing role of genetics evaluation and testing in the diagnostic process for children with hearing loss. The importance of health professionals such as audiologists gaining core competencies in genetics has been recognized. The current report describes a survey of academic programs in audiology designed to determine the extent to which genetics content is included in the curriculum. Responses from 56% of existing academic programs indicate that 95% include some genetics content in their programs, with the total number of classroom hours ranging from 2 to 65. Most programs included information on basic genetic mechanisms, syndromes, and interpreting family history information, while many fewer reported covering the molecular basis of hearing loss, genetic testing, or ethical or legal issues. The results of this survey demonstrate the need to incorporate more genetics content into audiology curricula and suggest strategies for assisting audiology faculty with this process.