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