Lauren E Buckley, Maeve K Hopkins, Jeffrey A Kuller
{"title":"The Evolving Landscape of Genetic Carrier Screening: Clinical Considerations and Challenges.","authors":"Lauren E Buckley, Maeve K Hopkins, Jeffrey A Kuller","doi":"10.1097/OGX.0000000000001168","DOIUrl":null,"url":null,"abstract":"<p><strong>Importance: </strong>Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.</p><p><strong>Objective: </strong>This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.</p><p><strong>Evidence acquisition: </strong>Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.</p><p><strong>Results: </strong>Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.</p><p><strong>Conclusions and relevance: </strong>Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.</p>","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":"78 7","pages":"483-489"},"PeriodicalIF":4.3000,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrical & Gynecological Survey","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/OGX.0000000000001168","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Importance: Genetic carrier screening is performed to identify carriers of rare genetic diseases. Identification of carriers allows patients to make informed reproductive health choices and can decrease the incidence of genetic disorders with serious medical implications.
Objective: This review aims to provide an overview of the history of prenatal genetic screening and the various forms of carrier screening, a synopsis of recent changes in society recommendations and current practice guidelines, and discussion of clinical challenges associated with carrier screening.
Evidence acquisition: Published practice guidelines from relevant professional societies were reviewed and synthesized. PubMed search was performed for relevant history and clinical considerations of carrier screening.
Results: Information and evidence summarized in this review include professional society practice guidelines, review articles, and peer-reviewed research articles.
Conclusions and relevance: Current practice guidelines differ between stakeholder professional organizations. Expanded carrier screening offers increased identification of rare disease carriers allowing for more informed reproductive choices. However, there are several barriers to the implementation of expanded carrier screening for all patients.
期刊介绍：
Each monthly issue of Obstetrical & Gynecological Survey presents summaries of the most timely and clinically relevant research being published worldwide. These concise, easy-to-read summaries provide expert insight into how to apply the latest research to patient care. The accompanying editorial commentary puts the studies into perspective and supplies authoritative guidance. The result is a valuable, time-saving resource for busy clinicians.
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