Date of Award

5-2020

Document Type

Thesis - Open Access

Open Access

1

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.

Submission Agreement

1

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

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