Tools of genomic medicine for clinical practice: The example of psychiatry.

Autor:	Vargas C; Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Viña del Mar, Chile., Bustamante ML; Laboratorio de Genética de Enfermedades Neuropsiquiátricas, Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Independencia, Chile., Kahler T; Escuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, Chile., Vargas F; Facultad de Ciencias, Universidad de Valparaíso, Valparaíso, Chile., Ríos U; Departamento de Psiquiatría, Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Valparaíso, Chile., Muñoz A; Escuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, Chile., Opazo F; Escuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, Chile., Arancibia M; Departamento de Psiquiatría, Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Valparaíso, Chile.
Jazyk:	English; Spanish; Castilian
Zdroj:	Medwave [Medwave] 2023 Jul 13; Vol. 23 (6). Date of Electronic Publication: 2023 Jul 13.
DOI:	10.5867/medwave.2023.06.2708
Abstrakt:	Most psychiatric disorders are moderate to highly heritable, often with different genetic architectures. Although genetic research in psychiatry has progressed, its findings, interpretation, and impact on clinical psychiatry are unknown to most mental healthcare professionals. This article addresses key genetic concepts to understand some clinical entities, emphasizing genetic terminology and types of mutations. Particularly, we describe the role of heritability in the early days of psychiatry genetic research, the most used study designs, and their main objectives. On the other hand, we review some genetic and genomic databases useful for clinical practice. These include Online Mendelian Inheritance in Man, ClinVar, Ensembl, and The Single Nucleotide Polymorphism Database. Finally, a clinical vignette is presented in which we can apply genomic medicine tools. Since the evidence in psychiatric genetics is based on studies carried out in European or North American ancestral populations, we must develop local studies to increase the knowledge and application of genomic medicine on underrepresented populations. Competing Interests: The authors have completed the ICMJE conflict of interest statement and declared that they received no funding for this article, have no financial relationships with organizations that may have an interest in the published article in the last three years and have no relationships or activities that may influence the publication of the article. Forms can be requested by contacting the corresponding author. (This work is licensed under a Creative Commons Attribution 4.0 International License.)
Databáze:	MEDLINE
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