{"title":"运动障碍临床基因检测的障碍。","authors":"Dennis Yeow, Laura I Rudaks, Kishore R Kumar","doi":"10.1097/WCO.0000000000001381","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>The number of known genetic movement disorders and potential treatments for these disorders have grown rapidly over the last few decades. Despite this, genetic testing for movement disorders remains relatively underutilized in clinical practice. In this review, we explore a number of barriers that prevent more routine and widespread use of genetic testing for movement disorders.</p><p><strong>Recent findings: </strong>Cost and limited health insurance coverage as well as difficulty accessing genetic testing and counselling are major barriers to genetic testing and disproportionately affect low- and middle-income countries and specific sociodemographic groups. Clinician misperceptions and limited knowledge about genetic testing for movements disorders as well as patient and clinician concerns about the potential for genetic discrimination are further obstacles. Despite these barriers, several recent international collaborative studies have demonstrated the feasibility of delivering clinical genetic testing and genetic counselling for movement disorders on a large scale.</p><p><strong>Summary: </strong>Concerted action at multiple organizational levels (government, specialty societies, health insurance organizations, etc.) is required in order to address the identified barriers and improve utilization of genetic testing in movement disorders on a global scale.</p>","PeriodicalId":11059,"journal":{"name":"Current Opinion in Neurology","volume":" ","pages":""},"PeriodicalIF":4.1000,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Barriers to clinical genetic testing in movement disorders.\",\"authors\":\"Dennis Yeow, Laura I Rudaks, Kishore R Kumar\",\"doi\":\"10.1097/WCO.0000000000001381\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>The number of known genetic movement disorders and potential treatments for these disorders have grown rapidly over the last few decades. Despite this, genetic testing for movement disorders remains relatively underutilized in clinical practice. In this review, we explore a number of barriers that prevent more routine and widespread use of genetic testing for movement disorders.</p><p><strong>Recent findings: </strong>Cost and limited health insurance coverage as well as difficulty accessing genetic testing and counselling are major barriers to genetic testing and disproportionately affect low- and middle-income countries and specific sociodemographic groups. Clinician misperceptions and limited knowledge about genetic testing for movements disorders as well as patient and clinician concerns about the potential for genetic discrimination are further obstacles. Despite these barriers, several recent international collaborative studies have demonstrated the feasibility of delivering clinical genetic testing and genetic counselling for movement disorders on a large scale.</p><p><strong>Summary: </strong>Concerted action at multiple organizational levels (government, specialty societies, health insurance organizations, etc.) is required in order to address the identified barriers and improve utilization of genetic testing in movement disorders on a global scale.</p>\",\"PeriodicalId\":11059,\"journal\":{\"name\":\"Current Opinion in Neurology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":4.1000,\"publicationDate\":\"2025-05-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current Opinion in Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/WCO.0000000000001381\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current Opinion in Neurology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/WCO.0000000000001381","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Barriers to clinical genetic testing in movement disorders.
Purpose of review: The number of known genetic movement disorders and potential treatments for these disorders have grown rapidly over the last few decades. Despite this, genetic testing for movement disorders remains relatively underutilized in clinical practice. In this review, we explore a number of barriers that prevent more routine and widespread use of genetic testing for movement disorders.
Recent findings: Cost and limited health insurance coverage as well as difficulty accessing genetic testing and counselling are major barriers to genetic testing and disproportionately affect low- and middle-income countries and specific sociodemographic groups. Clinician misperceptions and limited knowledge about genetic testing for movements disorders as well as patient and clinician concerns about the potential for genetic discrimination are further obstacles. Despite these barriers, several recent international collaborative studies have demonstrated the feasibility of delivering clinical genetic testing and genetic counselling for movement disorders on a large scale.
Summary: Concerted action at multiple organizational levels (government, specialty societies, health insurance organizations, etc.) is required in order to address the identified barriers and improve utilization of genetic testing in movement disorders on a global scale.
期刊介绍:
Current Opinion in Neurology is a highly regarded journal offering insightful editorials and on-the-mark invited reviews; covering key subjects such as cerebrovascular disease, developmental disorders, neuroimaging and demyelinating diseases. Published bimonthly, each issue of Current Opinion in Neurology introduces world renowned guest editors and internationally recognized academics within the neurology field, delivering a widespread selection of expert assessments on the latest developments from the most recent literature.