Author ORCID Identifier

https://orcid.org/0000-0002-8557-5756

Date of Graduation

5-2020

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Krista J. Qualmann, MS, CGC

Committee Member

Alana C. Cecchi, MS, CGC

Committee Member

Dianna M. Milewicz, MD, PhD

Committee Member

L. Maximilian Buja, MD

Committee Member

Syed S. Hashmi, MD, MPH, PhD

Abstract

Acute thoracic aortic dissection (TAD) is a life-threatening event with a hereditary component. Currently, pathogenic variants in 11 genes associated with aortic aneurysm and dissection predispose to a heritable form of disease thereby conferring an increased risk for TAD. Genetic testing plays a pivotal role not only in diagnosis, but also in risk stratification for relatives and medical management to prevent premature death from dissection. Due to its high fatality rate, medical examiners and coroners (ME/Cs) may be the first to identify TAD cases and initiate genetic testing for the decedent and at-risk relatives. ME/Cs were surveyed using three clinical vignettes detailing two cases of early-onset TAD, one with features of Marfan syndrome and another without, and a later onset TAD case. Sixty respondents reported their likelihood to complete various actions related to their level of suspicion for a genetic cause and recommendations for relatives (e.g. collect sample for testing, recommend imaging for relatives). Additionally, respondents were queried about current practices and perceived barriers regarding genetics evaluations for TAD. Reported practices were compared to recommendations established by the National Association of Medical Examiners (NAME). Respondents were significantly more likely to perform all proposed actions in the two early-onset cases versus the late-onset, non-syndromic case. ME/C’s were significantly more likely to speak with the decedent’s next-of-kin (NOK) about increased TAD risk and refer for genetic counseling in the early-onset syndromic vignette compared to early-onset non-syndromic case. Experience, approximated by the number of TAD cases seen at practicing institution, did not impact respondents’ choices, but access to a genetic counselor did. Cost of genetic testing was the most frequently reported barrier, followed by contacting NOK. Alignment with NAME guidelines varied, converging around sample collection, but diverging when communicating with NOK. Our results suggest that ME/Cs recognize the utility of postmortem genetic testing and the clinical risk factors for hereditary TAD. However, ordering genetic testing and recommending aortic imaging for at-risk relatives is inhibited by concerns regarding cost of genetic testing or access to NOK. Increasing ME/C’s access to genetic counseling services will be important for postmortem genetics evaluations in this population.

Keywords

Genetic Counseling, Aortopathy, Forensic Pathology, Genetics, Cardiovascular Disease

Available for download on Saturday, May 01, 2021

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