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Genetic counseling for bicuspid aortic valve: Predictor of knowledge, empowerment, and uptake of familial cardiac screening

Hancock, Bailey
http://orcid.org/0000-0001-6038-2408
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592133922324636

Abstract Details

2020, MS, University of Cincinnati, Medicine: Genetic Counseling.
Bicuspid aortic valve (BAV) is a common congenital heart defect which can cause severe cardiac complications. BAVs are known to cluster in families and demonstrate high heritability. Cardiac screening for first-degree relatives of individuals with BAVs is recommended. The purpose of this study was to demonstrate the value of genetics counselors by comparing parental knowledge of the genetics and heritability of a BAV, parental empowerment, and familial uptake of cardiac screening between a cohort who met with a genetic counselor (GC group) and a cohort who did not meet with a genetic counselor (non-GC group). A retrospective chart review from May 2016-June 2019 identified 133 pediatric patients with an isolated BAV. Cross-sectional surveys were emailed to the parents of the identified pediatric probands. Surveys were completed by 38/97 (39%) parents in the non-GC group and 20/36 (56%) parents in the GC group. A composite knowledge score was generated by summarizing the number of correct answers to 11 knowledge questions. A median knowledge score in the GC group was 8 (range 3-11) compared to a median of 7 (range 2-11) in the non-GC group (p=0.081). The Genomics Outcome Scale (GOS) questionnaire was used to measure empowerment. The mean GOS score for the GC group was higher (24.6±2.2) compared to a mean score in the non-GC group (23.2±3.5), (p=0.0292). The total number of first-degree relatives was calculated for GC group (n=59) and non-GC group (n=94). The uptake of cardiac screening was higher in the GC group with 39/59 (66%) total first-degree relatives screened compared to 37/94 (39%) total first-degree relatives in the non-GC group (p=0.0013). Patient reported outcomes in our study demonstrate that inclusion of genetic counselors significantly increases empowerment and uptake of familial cardiac screening for parents of patients with a BAV. This demonstrates the added value of genetic counselors and suggests that the addition of genetic counselors should be considered for all patients with a BAV.
Nicole Weaver, M.D. (Committee Chair)
Erin Miller (Committee Member)
Valentina Pilipenko, Ph.D. (Committee Member)
Amy Shikany, MS (Committee Member)
Justin Tretter (Committee Member)
33 p.
Genetics

Recommended Citations

Citations

  • Hancock, B. (2020). Genetic counseling for bicuspid aortic valve: Predictor of knowledge, empowerment, and uptake of familial cardiac screening [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592133922324636

    APA Style (7th edition)

  • Hancock, Bailey. Genetic counseling for bicuspid aortic valve: Predictor of knowledge, empowerment, and uptake of familial cardiac screening. 2020. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592133922324636.

    MLA Style (8th edition)

  • Hancock, Bailey. "Genetic counseling for bicuspid aortic valve: Predictor of knowledge, empowerment, and uptake of familial cardiac screening." Master's thesis, University of Cincinnati, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1592133922324636

    Chicago Manual of Style (17th edition)

ucin1592133922324636
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This open access ETD is published by University of Cincinnati and OhioLINK.