Date of Award

5-2020

Document Type

Thesis - Open Access

Abstract

This study aims to provide current insights into practice variation among genetic counselors (GC’s) and medical examiners (ME’s) with regards to post-mortem genetic testing in the context of Sudden Cardiac Death (SCD). Ninety total respondents (37 GC’s, 47 ME’s, 3 cardiologists, and 3 forensic pathologists) were surveyed, with questions addressing: who initiates testing and for what indications; what types of tests are ordered and how are they paid for; and what areas of the post-mortem genetic testing process need to be addressed in future studies for potential improvement. Significantly more GC’s ordered post-mortem genetic testing for SCDs than ME’s, with financial constraints being the main obstacle for ME’s and sample type/amount being the main determining factor for GC’s. The majority of respondents who ordered testing used arrhythmia panels with both cardiomyopathies and channelopathies. Most GC’s (64.9%) reported families paying out-of-pocket, whereas many ME’s (48.9%) reported their ME Office covering testing costs. Experience with insurance coverage was highly varied across GC’s, while ME’s were generally unsure about coverage. Seventeen ME’s (36.2%) reported no provision of pre-test counseling to families affected by SCD; 14 (29.8%) reported referring families to other providers or research organizations for determination of testing. When cost was not a barrier, grief was reported to be the greatest obstacle to testing. Overall, there were notable differences in practice, knowledge, and opinions between GC’s and ME’s with regards to pre-test counseling, financial responsibility, and key determining factors for testing, respectively. Future research is needed to help establish a uniform and enforceable protocol that healthcare professionals (including ME’s) and insurance companies can adhere to for post- mortem genetic testing in SCD cases, so that all affected families may receive the same standard of care during one of their most difficult times.

Under author imposed embargo.
Available for download on Sunday, May 01, 2022

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