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Motivations for sharing of genetic testing results and cardiac screening recommendations among a pediatric cardiomyopathy population

Bettin, Rebecca
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307126019

Abstract Details

2011, MS, University of Cincinnati, Medicine: Genetic Counseling.
Cardiomyopathy is a chronic and often progressive disease of the myocardium that is typically inherited. Clinical genetic testing is available for hypertrophic (HCM) and dilated cardiomyopathy (DCM). Identification of the genetic etiology in the proband allows for risk-stratification of relatives. It is recommended that individuals at-risk for HCM or DCM undergo cardiac screening. A written survey was sent to parents of patients evaluated in the cardiomyopathy clinic at Cincinnati Children’s Hospital Medical Center to characterize the motivations for genetic testing in their child and mode of information sharing among families with cardiomyopathy. Eighty-eight percent of parents identified two primary motivating factors in the decision to proceed with genetic testing; 1. help to prepare for the future and 2. avoid the worry of uncertainty. The number of affected family members and the presence of sudden cardiac death (SCD) in the family significantly impacted the parent-identified motivators. Families with two or more affected individuals identified two different motivators for genetic testing; 1. confirm the diagnosis in the affected person (92%) and 2. avoid unnecessary screening of unaffected individuals (83%). One hundred percent of families with SCD felt testing to confirm a diagnosis was their primary motivator. Families who had genetic testing were more likely to share results with family members by phone or with a counseling letter while those who did not have genetic testing tended to share results in person. Knowledge regarding motivations for genetic testing and mode of sharing of health information in the context of pediatric cardiomyopathy is important for improving communication between provider and the family.
Lisa Martin, PhD (Committee Chair)
Robert Hinton, MD (Committee Member)
Erin Miller, MSCGC (Committee Member)
Stephanie Ware, MDPhD (Committee Member)
57 p.
Genetics
Genetic Counseling; Family Sharing; Communication; Cardiomyopathy; Motivations; Modes of sharing

Recommended Citations

Citations

  • Bettin, R. (2011). Motivations for sharing of genetic testing results and cardiac screening recommendations among a pediatric cardiomyopathy population [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307126019

    APA Style (7th edition)

  • Bettin, Rebecca. Motivations for sharing of genetic testing results and cardiac screening recommendations among a pediatric cardiomyopathy population. 2011. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307126019.

    MLA Style (8th edition)

  • Bettin, Rebecca. "Motivations for sharing of genetic testing results and cardiac screening recommendations among a pediatric cardiomyopathy population." Master's thesis, University of Cincinnati, 2011. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1307126019

    Chicago Manual of Style (17th edition)

ucin1307126019
416
© 2011, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.