Hannah E Ison, Mohammad Mowaswes, Ronen Durst, Thorsten Leucker, Joshua W Knowles, Emily E Brown
{"title":"Is it time for a paradigm shift? Inclusion of APOE on genetic dyslipidemia panels.","authors":"Hannah E Ison, Mohammad Mowaswes, Ronen Durst, Thorsten Leucker, Joshua W Knowles, Emily E Brown","doi":"10.1002/jgc4.1889","DOIUrl":null,"url":null,"abstract":"<p><p>APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing due to the association with Alzheimer's disease. This paper aims to catalyze discussion around APOE testing and counseling strategies, highlight the nuances around this topic, and advocate for inclusion of APOE testing on dyslipidemia panels when an inherited dyslipidemia is suspected.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Genetic Counseling","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/jgc4.1889","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing due to the association with Alzheimer's disease. This paper aims to catalyze discussion around APOE testing and counseling strategies, highlight the nuances around this topic, and advocate for inclusion of APOE testing on dyslipidemia panels when an inherited dyslipidemia is suspected.
期刊介绍：
The Journal of Genetic Counseling (JOGC), published for the National Society of Genetic Counselors, is a timely, international forum addressing all aspects of the discipline and practice of genetic counseling. The journal focuses on the critical questions and problems that arise at the interface between rapidly advancing technological developments and the concerns of individuals and communities at genetic risk. The publication provides genetic counselors, other clinicians and health educators, laboratory geneticists, bioethicists, legal scholars, social scientists, and other researchers with a premier resource on genetic counseling topics in national, international, and cross-national contexts.
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