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Full-Text Articles in Medicine and Health Sciences
Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele
Assessing Genetic Counselors' Clinical Approach And Practices Regarding Pathogenic/Likely Pathogenic Variant Downgrades, Grant Bonesteele
Dissertations & Theses (Open Access)
Although rare, variant downgrades from a pathogenic/likely pathogenic (P/LP) variant to a variant of uncertain significance can have a significant impact on patients and their families in the clinical cancer setting. However, there is a lack of literature about how to approach these potentially challenging cases as a genetic counselor. Therefore, we aimed to characterize genetic counselors’ experiences, approach, and practices to variant downgrade cases using an online survey. The survey asked participants how they would approach variant downgrade scenarios involving the CDH1 or ATM genes with variable family histories. Genetic counselors appear to be united in whether they would …
Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier
Genetic Testing In Pregnancies With Ultrasound Anomalies: Exploration Of Factors That Influence Uptake, Lukas D. Kruidenier
Dissertations & Theses (Open Access)
Prenatal genetic diagnostic and screening tests have been rapidly evolving over the past decade with the introduction and expansion of cell free DNA screening (cfDNA) and the use of chromosomal microarray (CMA) as a first-line test for evaluation of fetal anomalies. Understanding patient motivations for or against expanded genetic testing options is paramount, therefore this study aimed to ascertain the patient perspective. Ninety-nine patients with an ultrasound anomaly participated in an anonymous, cross-sectional, research survey assessing coping strategies, factors influencing the genetic testing decision, and demographic variables. After multivariable analysis, the desire for directive counseling regarding testing was correlated with …
Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane
Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane
Dissertations & Theses (Open Access)
Exome sequencing (ES) is often a standard step in the genetic testing process for patients with rare or complex disease. Despite clinical implementation of ES, insurance companies (payers) continue to deny this test. We investigated if the payer barrier is influenced by payer type, and if other demographic or clinical information correlated to ES approval and obtainment. To do this, a retrospective chart and clinical database review was completed on patients seen at a tertiary care center and community-based clinic. Patient demographics, clinical indications, and testing recommendations and outcomes were used to assess ES approval and obtainment. We found that …