Related Experiment Video

Updated: Apr 18, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.4K

Factors Associated with Uptake of Genetics Services for Hypertrophic Cardiomyopathy

Amirah Khouzam1, Andrea Kwan1,2, Samantha Baxter3

  • 1Department of Genetics, Stanford University, Stanford, CA, USA.

Journal of Genetic Counseling
|January 9, 2015
PubMed

Insights

Many individuals with hypertrophic cardiomyopathy (HCM) underutilize genetic services. Perceived benefits and barriers, guided by the Health Belief Model, significantly impact uptake of genetic testing and counseling for HCM.

Area of Science:

  • Cardiovascular Genetics
  • Medical Sociology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a prevalent cardiovascular disease with genetic underpinnings.
  • Clinical guidelines advocate for genetic counseling in HCM assessment, yet service utilization is suboptimal.
  • The Health Belief Model (HBM) provides a framework to understand health behaviors and decision-making.

Purpose of the Study:

  • To investigate factors influencing the underutilization of genetics services among individuals with or at risk for HCM.
  • To assess the role of the Health Belief Model in explaining the uptake of genetic testing and counseling for HCM.

Main Methods:

  • An online survey was administered to 306 individuals affected by or at risk for HCM.
  • Data collected included demographics, family history, prior genetic counseling, genetic testing status, and HBM-related beliefs.
  • Statistical analyses were performed to identify factors associated with seeking genetic services and undergoing genetic testing.

Main Results:

  • Only 37% of participants had consulted a genetics professional for HCM-related reasons, and 53% had undergone genetic testing.
  • Uptake of genetic testing correlated with prior genetic consultation, family history of HCM, and knowledge of a familial mutation.
  • Perceived benefits of genetic testing (curiosity, reassurance, aiding family decisions, promoting healthy lifestyle) and HBM components (cues to action, perceived benefits/barriers) significantly influenced testing uptake.

Conclusions:

  • The underutilization of genetic services in HCM highlights a gap between clinical recommendations and patient action.
  • The Health Belief Model effectively explains variations in the uptake of genetic testing, emphasizing the importance of perceived benefits and barriers.
  • Enhanced awareness and education regarding HCM genetics and available services are crucial for both healthcare providers and patients to improve care and counseling.

Keywords:
Genetic servicesGenetic testingHealth Belief ModelHypertrophic cardiomyopathy (HCM)Utilization

More Related Videos

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

6.3K
Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

10.9K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
806
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
724
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
98
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
1.7K
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
807
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
132