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Mason-Suares, Heather

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Mason-Suares

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Heather

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Mason-Suares, Heather

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2016 - 20172

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    Training the Future Leaders in Personalized Medicine
    (MDPI, 2016) Mason-Suares, Heather; Sweetser, David; Lindeman, Neal; Morton, Cynthia
    The era of personalized medicine has arrived, and with it a need for leaders in this discipline. This generation of trainees requires a cadre of new skill sets to lead the implementation of personalized medicine into mainstream healthcare. Traditional training programs no longer provide trainees with all the skills they will need to optimize implementation of this revolution now underway in medicine. Today’s trainees must manage clinical teams, act as clinical and molecular diagnostic consultants, train other healthcare professionals, teach future generations, and be knowledgeable about clinical trials to facilitate genomic-based therapies. To prepare trainees for the transition to junior faculty positions, contemporary genomic training programs must emphasize the development of these management, teaching, and clinical skills.
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    Electronic Health Record Phenotype in Subjects with Genetic Variants Associated with Arrhythmogenic Right Ventricular Cardiomyopathy: A Study in 30,716 Subjects with Exome Sequencing: Genotype-Phenotype Association in Incidental ARVC Genetic Findings
    (2017) Haggerty, Christopher M.; James, Cynthia A.; Calkins, Hugh; Tichnell, Crystal; Leader, Joseph B.; Hartzel, Dustin N.; Nevius, Christopher D.; Pendergrass, Sarah A.; Person, Thomas N.; Schwartz, Marci; Ritchie, Marylyn D.; Carey, David J.; Ledbetter, David H.; Williams, Marc S.; Dewey, Frederick E.; Lopez, Alexander; Penn, John; Overton, John D.; Reid, Jeffrey G.; Lebo, Matthew; Mason-Suares, Heather; Austin-Tse, Christina; Rehm, Heidi; Delisle, Brian P.; Makowski, Daniel J.; Mehra, Vishal C.; Murray, Michael F.; Fornwalt, Brandon K.
    Purpose Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained. Methods: 30,716 individuals underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely pathogenic were identified and evidence-reviewed. For subjects with putative loss-of-function (pLOF) variants or variants of uncertain significance (VUS), electronic health records (EHR) were reviewed for ARVC diagnosis, diagnostic criteria, and International Classification of Diseases (ICD-9) codes. Results: 18 subjects had pLOF variants; none had an EHR diagnosis of ARVC. Of 14 patients with an electrocardiogram (ECG), one had a minor diagnostic criterion, 13 were normal. 184 subjects had VUSs; none had an ARVC diagnosis. In subjects with VUSs, there was no difference in the proportion with major (4%) or minor (13%) ECG diagnostic criteria compared to variant-negative controls. ICD-9 codes showed no difference in defibrillator utilization, electrophysiologic abnormalities or non-ischemic cardiomyopathies in patients with pLOF or VUSs compared to controls. Conclusion: pLOF variants in an unselected cohort were not associated with ARVC phenotypes based on EHR review. The negative predictive value of EHR review remains uncertain.