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Full-Text Articles in Genetics and Genomics
Efficacy Of Telegenetics: A Diagnostic Yield Comparison Between In-Person And Telemedicine Pediatric Genetic Evaluations, Allie Merrihew
Efficacy Of Telegenetics: A Diagnostic Yield Comparison Between In-Person And Telemedicine Pediatric Genetic Evaluations, Allie Merrihew
Theses and Dissertations
The purpose of this study was to investigate the efficacy of telegenetic services for pediatric genetic evaluations conducted by telemedicine by comparing it to in-person pediatric genetic evaluations. Research into the utility of telegenetics would greatly serve to identify if this is a preferred alternative service delivery model to bridge the gap in accessibility and reach a greater catchment area of the population, especially to those living in underserved and rural locations. This study was a retrospective review of electronic medical records of pediatric patients seen at Greenwood Genetic Center (GGC) for initial in-person genetic visits prior to the COVID-19 …
Exploration Of Patient Communication Preference Regarding Reclassified Genetic Test Results, Cooper Nicole Hall
Exploration Of Patient Communication Preference Regarding Reclassified Genetic Test Results, Cooper Nicole Hall
Theses and Dissertations
Genetic testing is becoming increasingly used to detect individuals who are predisposed to developing cancer. If genetic testing identifies a variant in an individual’s DNA, the testing laboratory uses available data to classify the variant as either disease-causing or benign. When limited data is available regarding a variant’s pathogenicity and the risk of cancer for an individual is not clear, the variant is classified as a “variant of uncertain significance” (VUS). If new data is discovered, the VUS may be reclassified. There is a gap in current literature regarding desired communication for a reclassified genetic test result. There are no …
Assessing Women's Attitudes Towards Genetic Testing For Hereditary Breast Cancer, Taylor Jane Apostolico
Assessing Women's Attitudes Towards Genetic Testing For Hereditary Breast Cancer, Taylor Jane Apostolico
Theses and Dissertations
OBJECTIVES: Hereditary Breast and Ovarian Cancer (HBOC) is an autosomal dominant cancer predisposition syndrome with a 46-87% lifetime risk of breast cancer. Unaffected women who have HBOC are eligible for more screening procedures and prophylactic surgeries that may reduce the risk of developing cancer by up to 95%. The objectives of this study were to assess women’s awareness of and interest in breast cancer genetic testing services, as well as women’s attitudes and beliefs regarding the clinical utilization of HBOC genetic testing across demographic categories. METHODS: Two-hundred and sixty-eight women completed a 35-item survey designed to capture perceptions of HBOC …