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Genetics

Theses and Dissertations

Theses/Dissertations

Cancer

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Cancer Screening For Patients With Intellectual Disability: Exploring Parent And Caregiver Perspectives, Jennifer Ryan Aug 2024

Cancer Screening For Patients With Intellectual Disability: Exploring Parent And Caregiver Perspectives, Jennifer Ryan

Theses and Dissertations

Intellectual disability (ID) is defined as a combination of deficits in cognitive and adaptive function, both of which must be present early in life. Adults with ID frequently have unique healthcare needs; however, they also require care that is routine for all adults. This includes cancer screening. The goal of this study was to evaluate whether or not adults with ID are undergoing cancer screening, understand the barriers they have faced in obtaining screening, and collect recommendations from parents and caregivers on ways to improve access to and facilitate screening for this population. We surveyed parents and caregivers of adults …


Assessing The Anticipated Needs Of Transgender Patients In Cancer Genetic Counseling, Jacqueline Baquet Apr 2021

Assessing The Anticipated Needs Of Transgender Patients In Cancer Genetic Counseling, Jacqueline Baquet

Theses and Dissertations

Most cancers are sporadic, but 5-10% of all cancer is hereditary, or caused by a heritable genetic mutation. A patient’s medical history, family history, genetic test results, intact organs (e.g., ovaries) at an increased risk for developing cancer, and the availability and accessibility of interventions are used to make recommendations for cancer-risk management. In addition to basic medical care, transgender patients have healthcare needs that differ from those of cisgender patients such as expert care related to using hormones or having gender-affirming surgery, as well as unique mental health concerns. Transgender individuals may also experience a greater number of barriers …


Exploration Of Patient Communication Preference Regarding Reclassified Genetic Test Results, Cooper Nicole Hall Apr 2021

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 …


Exploring Patient Perceptions And Misconceptions: Beliefs Regarding Hereditary Cancer, Margaret Flach Apr 2019

Exploring Patient Perceptions And Misconceptions: Beliefs Regarding Hereditary Cancer, Margaret Flach

Theses and Dissertations

Many patients who enter a genetic counseling session have preconceived notions about why they or their family members developed a genetic condition. Often these perceptions are deeply rooted in personal, familial, and/ or cultural beliefs; individuals typically have a personal framework, or schema, into which they incorporate new information. There is limited research on what information patients are retaining during a genetic counseling session and how they are assimilating that knowledge into their existing views. We attempted to characterize these patient perceptions with respect to hereditary cancer, in order to assess how patients are adopting the information presented in a …


Re-Contacting Cancer Genetic Counseling Patients: Expectations Of Patients And Physicians, Zoe Elizabeth Siegel Jun 2016

Re-Contacting Cancer Genetic Counseling Patients: Expectations Of Patients And Physicians, Zoe Elizabeth Siegel

Theses and Dissertations

The landscape of cancer genetic counseling and testing is rapidly evolving. Genetic testing technology is improving, management guidelines are evolving, and genetic testing options are expanding. These frequent updates to the components of cancer genetics have increased the complexity of managing patient care over time. In particular, this raises questions on the duty to re-contact patients as new information becomes available. This study explored healthcare providers’ duty to re-contact through the interests and expectations of patients, including which circumstances warrant re-contacting, which healthcare provider is responsible for re-contacting the patient, and the preferred method of re-contacting. Physicians’ opinions on whether …