Date of Award

5-2018

Document Type

Thesis - Open Access

Degree Name

MS Human Genetics

Department

Human Genetics Graduate Program

Abstract

Purpose: To determine the utility of a post-mortem 95 cardiac gene panel in the diverse NYC population through examining the positive phenotypic predictors of clinically actionable gene variants as in those with sudden death. Methods: 254 participants with sudden death underwent post-mortem testing through a 95 cardiac gene panel between Oct 2015-Feb 2018. NGS and variant interpretation was performed internally at the NYC Office of the Chief Medical Examiner (OCME) following ACMG guidelines. Medical information was collected from the OCME internal records. Chi-square tests were used to investigate categorical predictors of pathogenic genetic test results. Results: Of 319 genetic test results, 51.4% (n = 164) were VUS, 9.1% (n = 29) were clinically actionable, and 39.5% (n = 126) were negative. Clinically actionable variants were found in 51 of the 95 genes sequenced. Positive predictors of pathogenic genetic test results were significant personal medical history, significant family history, and heart findings on autopsy. Conclusion: The results support widespread testing on all sudden death cases, however, this may not be feasible everywhere due to limited resource or financial allocations. From this study we were able to determine inclusion criteria for post-mortem genetic testing for heritable cardiac conditions.

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