Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors.
Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac...
| Publicado en: | Journal of Genetic Counseling Vol. 34; no. 3; pp. 1 - 20 |
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| Autores principales: | , , , , , , , |
| Formato: | diagnostic images pictorial Journal Article |
| Publicado: |
Wiley-Blackwell
Jun2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=186226407&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 186226407 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10597700 41A jtl: Journal of Genetic Counseling issn: 10597700 maglogo: N pubinfo: dt: Jun2025 vid: 34 iid: 3 pid: 480 pub: Wiley-Blackwell place: Malden, Massachusetts artinfo: ui: 186226407 180573262 186226407 186226407 10.1002/jgc4.1993 186226407 ppf: 1 ppct: 19 formats: fmt: – @attributes: type: T – @attributes: type: C – @attributes: type: P tig: atl: Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence‐based practice resource of the National Society of Genetic Counselors. aug: au: Miller, Erin M. Brown, Emily Christian, Susan Kelly, Melissa A. Knight, Linda M. Saberi, Sara Rigelsky, Christina Ingles, Jodie affil: Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati Ohio,, USA sug: subj: Cardiomyopathy, Hypertrophic Diagnosis Genetic Counseling Genetic Screening Medical Practice, Evidence-Based Practice Guidelines Mutation Family History Sensitivity and Specificity Phenotype Psychological Well-Being Empathy Problem Solving Genomics Sequence Analysis Gene Expression Profiling ab: Hypertrophic cardiomyopathy (HCM) is a common hereditary condition affecting approximately 1 in 500 adults. It is characterized by marked clinical heterogeneity with individuals experiencing minimal to no symptoms, while others may have more severe outcomes including heart failure and sudden cardiac death. Genetic testing for HCM is increasingly available due to advances in DNA sequencing technologies and reduced costs. While a diagnosis of HCM is a well‐supported indication for genetic testing and genetic counseling, incorporation of genetic services into the clinical setting is often limited outside of expert centers. As genetic counseling and testing have become more accessible and convenient, optimal integration of genomic data into the clinical care of individuals with HCM should be instituted, including delivery via genetic counseling. Drawing on recommendations from recent disease guidelines and systematic evidence reviews, we highlight key recommendations for HCM genetic testing and counseling. This practice resource provides a comprehensive framework to guide healthcare providers in the process of genetic test selection, variant classification, and cascade testing for genetic evaluation of HCM. pubtype: Academic Journal doctype: diagnostic images pictorial Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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