Original Article

Pediatric Cardiology

, Volume 31, Issue 2, pp 195-202

Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing

  • Sara M. Fitzgerald-ButtAffiliated withCenter for Molecular and Human Genetics, The Research Institute at Nationwide Children’s HospitalDepartment of Pediatrics, College of Medicine, The Ohio State University Email author 
  • , Lindsey ByrneAffiliated withCenter for Molecular and Human Genetics, The Research Institute at Nationwide Children’s HospitalCancer Genetics, OhioHealth
  • , Cynthia A. GerhardtAffiliated withCenter for BioBehavioral Health, The Research Institute at Nationwide Children’s HospitalDepartment of Pediatrics, College of Medicine, The Ohio State University
  • , Kathryn VannattaAffiliated withCenter for BioBehavioral Health, The Research Institute at Nationwide Children’s HospitalDepartment of Pediatrics, College of Medicine, The Ohio State University
  • , Timothy M. HoffmanAffiliated withDepartment of Pediatrics, College of Medicine, The Ohio State UniversityThe Heart Center, Nationwide Children’s Hospital
  • , Kim L. McBrideAffiliated withCenter for Molecular and Human Genetics, The Research Institute at Nationwide Children’s HospitalDepartment of Pediatrics, College of Medicine, The Ohio State University

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Abstract

Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant condition with an increased risk of sudden cardiac death. Although clinical genetic testing can be used for confirmation of a clinical diagnosis as well as a predictive test, based on our clinical experience it is underutilized. Therefore, we developed and administered a questionnaire to assess potential determinants of parental interest in this testing. Of the 30 adult caregivers who participated, 80% had heard of genetic testing, whereas only 30% knew about genetic testing specifically for HCM. Once informed of the availability, 62% said they would consider testing in the future and 28% would consider it in the next year. Participants’ younger age, higher education level, knowledge of carrier testing, and positive view of genetic testing were significantly associated with the participant considering HCM genetic testing for their child (p ≤ 0.05). Based on a logistic regression model, age, education level, and knowing that HCM is an inherited disease were the best predictors of who would consider genetic testing. This study provides healthcare providers with a framework to understand caregivers’ knowledge and views of genetic testing, which can be used to improve clinical care for pediatric HCM patients.

Keywords

Hypertrophic cardiomyopathy Genetic screening Genetic counseling Pediatric Health knowledge attitudes practice