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

Autor: Camila Vargas, María Leonor Bustamante, Trinidad Kahler, Fernanda Vargas, Ulises Ríos, Angela Muñoz, Francisca Opazo, Marcelo Arancibia
Jazyk: English<br />Spanish; Castilian
Rok vydání: 2023
Předmět:
Zdroj: Medwave, Vol 23, Iss 06, Pp e2708-e2708 (2023)
Druh dokumentu: article
ISSN: 0717-6384
DOI: 10.5867/medwave.2023.06.2708
Popis: 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.
Databáze: Directory of Open Access Journals