{"title":"与心脏病有关的遗传学:对全科医生的影响。","authors":"Kevin Ng, Atifur Rahman","doi":"10.31128/AJGP-10-23-6986","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Cardiovascular diseases (CVDs) pose significant global health challenges, with genetics increasingly recognised as a key factor alongside traditional risk factors. This presents an opportunity for general practitioners (GPs) to refine their approaches.</p><p><strong>Objective: </strong>This article explores the impact of genetics on CVDs and its implications for GPs. It discusses monogenic disorders like inherited cardiomyopathies and polygenic risks, as well as pharmacogenetics, aiming to enhance risk assessment and personalised care.</p><p><strong>Discussion: </strong>Monogenic disorders, driven by single gene mutations, exhibit predictable inheritance patterns, including inherited cardiomyopathies and channelopathies such as Long QT syndrome. Polygenic risks involve multiple genetic variants influencing CVD susceptibility, addressed through polygenic risk scores for precise risk assessment. Pharmacogenetics tailor drug interventions based on genetic profiles, though challenges like accessibility and ethical considerations persist. Integrating genetics into cardiovascular care holds promise for alleviating the global CVD burden and improving patient outcomes.</p>","PeriodicalId":54241,"journal":{"name":"Australian Journal of General Practice","volume":null,"pages":null},"PeriodicalIF":1.6000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Genetics in relation to cardiac diseases: Implications for general practitioners.\",\"authors\":\"Kevin Ng, Atifur Rahman\",\"doi\":\"10.31128/AJGP-10-23-6986\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Cardiovascular diseases (CVDs) pose significant global health challenges, with genetics increasingly recognised as a key factor alongside traditional risk factors. This presents an opportunity for general practitioners (GPs) to refine their approaches.</p><p><strong>Objective: </strong>This article explores the impact of genetics on CVDs and its implications for GPs. It discusses monogenic disorders like inherited cardiomyopathies and polygenic risks, as well as pharmacogenetics, aiming to enhance risk assessment and personalised care.</p><p><strong>Discussion: </strong>Monogenic disorders, driven by single gene mutations, exhibit predictable inheritance patterns, including inherited cardiomyopathies and channelopathies such as Long QT syndrome. Polygenic risks involve multiple genetic variants influencing CVD susceptibility, addressed through polygenic risk scores for precise risk assessment. Pharmacogenetics tailor drug interventions based on genetic profiles, though challenges like accessibility and ethical considerations persist. Integrating genetics into cardiovascular care holds promise for alleviating the global CVD burden and improving patient outcomes.</p>\",\"PeriodicalId\":54241,\"journal\":{\"name\":\"Australian Journal of General Practice\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Australian Journal of General Practice\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.31128/AJGP-10-23-6986\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Australian Journal of General Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.31128/AJGP-10-23-6986","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Genetics in relation to cardiac diseases: Implications for general practitioners.
Background: Cardiovascular diseases (CVDs) pose significant global health challenges, with genetics increasingly recognised as a key factor alongside traditional risk factors. This presents an opportunity for general practitioners (GPs) to refine their approaches.
Objective: This article explores the impact of genetics on CVDs and its implications for GPs. It discusses monogenic disorders like inherited cardiomyopathies and polygenic risks, as well as pharmacogenetics, aiming to enhance risk assessment and personalised care.
Discussion: Monogenic disorders, driven by single gene mutations, exhibit predictable inheritance patterns, including inherited cardiomyopathies and channelopathies such as Long QT syndrome. Polygenic risks involve multiple genetic variants influencing CVD susceptibility, addressed through polygenic risk scores for precise risk assessment. Pharmacogenetics tailor drug interventions based on genetic profiles, though challenges like accessibility and ethical considerations persist. Integrating genetics into cardiovascular care holds promise for alleviating the global CVD burden and improving patient outcomes.
期刊介绍:
The Australian Journal of General Practice (AJGP) aims to provide relevant, evidence-based, clearly articulated information to Australian general practitioners (GPs) to assist them in providing the highest quality patient care, applicable to the varied geographic and social contexts in which GPs work and to all GP roles as clinician, researcher, educator, practice team member and opinion leader. All articles are subject to peer review before they are accepted for publication.