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Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population

Newman, Randa E
http://orcid.org/0000-0001-6826-1969
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459529335

Abstract Details

2016, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: The Toronto Hypertrophic Cardiomyopathy (HCM) Genotype Score and Mayo HCM Genotype Predictor are risk assessment models recently developed to estimate a patient’s likelihood of testing positive for a pathogenic variant causative of HCM. These models were developed from adult populations with HCM based on factors that have been associated with a positive genotype and have not been validated in external populations. The purpose of this study was to evaluate the overall predictive abilities of these models in a clinical pediatric HCM setting. Methods and Results: A retrospective medical record review of 77 pediatric patients with gene panel testing for HCM between September 2005 and June 2015 was performed. Clinical and echocardiographic variables used in the developed models were collected and used to calculate scores for each patient. To evaluate model performance, the ability to discriminate between a carrier and non-carrier was assessed by area under the ROC curve (AUC) and overall calibration was evaluated by the Hosmer-Lemeshow goodness-of-fit statistic. The Toronto model and the Mayo model showed p values of 0.41 and 0.88, respectively, for model calibration. Discrimination assessed by AUC was 0.72 (P < 0.001) for the Toronto model and 0.65 (P = 0.009) for the Mayo model. Conclusions: Our findings suggest that these models are useful in predicting a positive genetic test result in a pediatric HCM setting. They may be used to aid healthcare providers in communicating risk and enhance patient decision-making regarding pursuit of genetic testing.
Melanie Myers, Ph.D. (Committee Chair)
Clifford Chin, M.D. (Committee Member)
Hua He, M.S. (Committee Member)
John Lynn Jefferies, M.D. M.P.H. (Committee Member)
Erin Miller, M.S. L.C.G.C. (Committee Member)
Ashley Parrott, M.S. L.C.G.C. (Committee Member)
Amy R. (Garrison) Shikany, MS LCGC (Committee Member)
35 p.
Genetics
hypertrophic cardiomyopathy; pediatric HCM; genetic counseling; risk assessment

Recommended Citations

Citations

  • Newman, R. E. (2016). Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459529335

    APA Style (7th edition)

  • Newman, Randa. Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population. 2016. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459529335.

    MLA Style (8th edition)

  • Newman, Randa. "Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population." Master's thesis, University of Cincinnati, 2016. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1459529335

    Chicago Manual of Style (17th edition)

ucin1459529335
649
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This open access ETD is published by University of Cincinnati and OhioLINK.