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

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...

Full description

Bibliographic Details
Main Authors: Camila Vargas, María Leonor Bustamante, Trinidad Kahler, Fernanda Vargas, Ulises Ríos, Angela Muñoz, Francisca Opazo, Marcelo Arancibia
Format: Article
Language:English
Published: Medwave Estudios Limitada 2023-07-01
Series:Medwave
Subjects:
Online Access:https://www.medwave.cl/revisiones/revisiontemas/2708.html
_version_ 1797754317372915712
author Camila Vargas
María Leonor Bustamante
Trinidad Kahler
Fernanda Vargas
Ulises Ríos
Angela Muñoz
Francisca Opazo
Marcelo Arancibia
author_facet Camila Vargas
María Leonor Bustamante
Trinidad Kahler
Fernanda Vargas
Ulises Ríos
Angela Muñoz
Francisca Opazo
Marcelo Arancibia
author_sort Camila Vargas
collection DOAJ
description 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.
first_indexed 2024-03-12T17:31:00Z
format Article
id doaj.art-dbab4bfbc47644cbb115dc8db3cf0200
institution Directory Open Access Journal
issn 0717-6384
language English
last_indexed 2024-03-12T17:31:00Z
publishDate 2023-07-01
publisher Medwave Estudios Limitada
record_format Article
series Medwave
spelling doaj.art-dbab4bfbc47644cbb115dc8db3cf02002023-08-04T20:43:29ZengMedwave Estudios LimitadaMedwave0717-63842023-07-012306e2708e270810.5867/medwave.2023.06.2708Tools of genomic medicine for clinical practice: The example of psychiatryCamila Vargas0https://orcid.org/0000-0002-4917-2124María Leonor Bustamante1https://orcid.org/0000-0001-9071-2463Trinidad Kahler2https://orcid.org/0000-0001-6298-8147Fernanda Vargas3https://orcid.org/0000-0001-9636-1422Ulises Ríos4https://orcid.org/0000-0001-6227-4451Angela Muñoz5https://orcid.org/0000-0002-2739-173XFrancisca Opazo6https://orcid.org/0000-0002-8878-1205Marcelo Arancibia7https://orcid.org/0000-0003-2239-6248Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Viña del Mar, ChileLaboratorio de Genética de Enfermedades Neuropsiquiátricas, Programa de Genética Humana, Instituto de Ciencias Biomédicas, Universidad de Chile, Independencia, ChileEscuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, ChileFacultad de Ciencias, Universidad de Valparaíso, Valparaíso, ChileDepartamento de Psiquiatría, Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Valparaíso, ChileEscuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, ChileEscuela de Medicina, Facultad de Medicina, Universidad de Chile, Independencia, ChileDepartamento de Psiquiatría, Escuela de Medicina, Facultad de Medicina, Universidad de Valparaíso, Valparaíso, ChileMost 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.https://www.medwave.cl/revisiones/revisiontemas/2708.htmlgeneticsgenomicsmental disorderspsychiatry
spellingShingle Camila Vargas
María Leonor Bustamante
Trinidad Kahler
Fernanda Vargas
Ulises Ríos
Angela Muñoz
Francisca Opazo
Marcelo Arancibia
Tools of genomic medicine for clinical practice: The example of psychiatry
Medwave
genetics
genomics
mental disorders
psychiatry
title Tools of genomic medicine for clinical practice: The example of psychiatry
title_full Tools of genomic medicine for clinical practice: The example of psychiatry
title_fullStr Tools of genomic medicine for clinical practice: The example of psychiatry
title_full_unstemmed Tools of genomic medicine for clinical practice: The example of psychiatry
title_short Tools of genomic medicine for clinical practice: The example of psychiatry
title_sort tools of genomic medicine for clinical practice the example of psychiatry
topic genetics
genomics
mental disorders
psychiatry
url https://www.medwave.cl/revisiones/revisiontemas/2708.html
work_keys_str_mv AT camilavargas toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT marialeonorbustamante toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT trinidadkahler toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT fernandavargas toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT ulisesrios toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT angelamunoz toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT franciscaopazo toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry
AT marceloarancibia toolsofgenomicmedicineforclinicalpracticetheexampleofpsychiatry