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Articles 1 - 6 of 6
Full-Text Articles in Medical Genetics
Genetic Counselors' Approaches To Direct-To-Consumer Genetic Testing For Hereditary Breast Cancer, Sarah Burke
Genetic Counselors' Approaches To Direct-To-Consumer Genetic Testing For Hereditary Breast Cancer, Sarah Burke
Dissertations & Theses (Open Access)
Given the increasing availability of health-related direct-to-consumer genetic testing (DTC-GT) and third-party interpretation (TPI) services, it is likely that genetic counselors (GCs) will continue to encounter consumers that require follow-up counseling for their results. The National Comprehensive Cancer Network recommends clinical-grade genetic testing to confirm commercial results; however, the type of testing that GCs select remains uncharacterized. Therefore, we aimed to describe the specific recommendations that cancer GCs make for confirmatory genetic testing in probands who have already obtained DTC-GT results or TPI data that reported a BRCA1/2 pathogenic variant. We recruited 80 GCs specializing in hereditary cancer and administered …
Investigating Medical Examiners' Practices: Genetic Evaluation For Fatal Acute Aortic Dissection, Bradley Power
Investigating Medical Examiners' Practices: Genetic Evaluation For Fatal Acute Aortic Dissection, Bradley Power
Dissertations & Theses (Open Access)
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 …
Understanding Medical Mistrust In Black Women At Risk Of Brca 1/2 Mutations, Arnethea L. Sutton, Jun He, Erin Tanner, Megan C. Edmonds, Alesha Henderson, Alejandra Hurtado De Mendoza, Vanessa B. Sheppard
Understanding Medical Mistrust In Black Women At Risk Of Brca 1/2 Mutations, Arnethea L. Sutton, Jun He, Erin Tanner, Megan C. Edmonds, Alesha Henderson, Alejandra Hurtado De Mendoza, Vanessa B. Sheppard
Journal of Health Disparities Research and Practice
The benefits of genetic counseling and testing for hereditary breast and/or ovarian cancer (HBOC) are well documented; however, Black women are less likely to use these services compared to White women. Mistrust of the medical system has been associated with Black women’s use of genetic counseling and testing (GCT). However, relatively little is known about the correlates of medical mistrust in Black women at increased risk of HBOC. In this study, we examined the prevalence and predictors of medical mistrust in 94 Black women at-risk of HBOC. Most women were married (48.7%) and had at least some collegiate education (57.1%). …
Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem
Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem
Manuscripts, Articles, Book Chapters and Other Papers
Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of …
The Impact Of Family History On Medullary Thyroid Cancer In Men2a Patients, Nicole D. Mohrbacher
The Impact Of Family History On Medullary Thyroid Cancer In Men2a Patients, Nicole D. Mohrbacher
Dissertations & Theses (Open Access)
The American Thyroid Association recently classified all MEN2A-associated codons into increasing risk levels A-C and stated that some patients may delay prophylactic thyroidectomy if certain criteria are met. One criterion is a less aggressive family history of MTC but whether families with the same mutated codon have variable MTC aggressiveness is not well described. We developed several novel measures of MTC aggressiveness and compared families with the same mutated codon to determine if there is significant inter-familial variability. Pedigrees of families with MEN2A were reviewed for codon mutated and proportion of RET mutation carriers with MTC. Individuals with MTC were …
Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles
Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles
Research outputs 2013
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland …