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Genetic counseling

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Evaluating Insurance Approval Rates Of Exome Sequencing And Its Effect On Minority Patients' Access To Genetic Care, Katlyn Frane May 2021

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 …


Assessing Patient Attitudes Toward Genetic Testing For Hereditary Hematologic Malignancy, Addison Johnson May 2020

Assessing Patient Attitudes Toward Genetic Testing For Hereditary Hematologic Malignancy, Addison Johnson

Dissertations & Theses (Open Access)

Since 2003, more than 15 genes have been identified to predispose to hereditary hematologic malignancy (HHM). Although the diagnostic yield of germline analysis for leukemia is similar to solid tumors, referral for genetic evaluation in adults with leukemia is underperformed. Identifying HHM is important for prognostication, treatment, and donor selection for hematopoietic stem cell transplant. No studies have examined leukemia patients’ attitudes toward genetic testing for HHM. This study aimed to assess leukemia patients’ attitudes toward genetic testing and elicit current perceived distress due to a leukemia diagnosis. Data were elicited through an electronic survey sent to 5,513 patients diagnosed …


Examining The Relationship Between Genetic Counselors’ Implicit Attitudes Toward Disability And Their Practice Methods, Helen W. Gould May 2018

Examining The Relationship Between Genetic Counselors’ Implicit Attitudes Toward Disability And Their Practice Methods, Helen W. Gould

Dissertations & Theses (Open Access)

Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child. This role requires genetic counselors to be responsible and compassionate when approaching conversations about disability. With a lack of research on how the specific attitudes of genetic counselors toward disability impact clinical practice, we aimed to understand these attitudes, what factors affect implicit attitudes toward disability, and how these attitudes affect counseling. Case scenarios involving disability were used to examine different counseling content preferences within a genetic …


Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace May 2018

Outcomes Of Genetic Testing In A Genitourinary Genetics Clinic, Annelise Pace

Dissertations & Theses (Open Access)

Several known hereditary cancer syndromes confer an increased risk for genitourinary (GU)related malignancies. Various guidelines indicate when to refer patients to genetic counseling for GU-related hereditary cancer syndromes but there is limited research on the clinical picture of these patients, including their cancerous and non-cancerous features, the genetic testing strategy for this population, and the probability of having a positive germline mutation if testing is performed. The purpose of this study is to determine the most common indications for ordering genetic testing in a GU Genetics Clinic and evaluate whether there is a relationship between the indication for genetic testing …


Patient Attitudes Toward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft May 2018

Patient Attitudes Toward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft

Dissertations & Theses (Open Access)

Although inherited predispositions to hematologic malignancies have previously been considered extremely rare, approximately 12 causative genes have been implicated in the last decade. Since individuals diagnosed with leukemia have not historically been considered for evaluation of inherited predispositions, genetic testing is underperformed in this population. This study used focus group discussions to explore the attitudes, motivations, and barriers to genetic testing for 23 patients with leukemia. Participants generally exhibited a positive regard for the utility of genetic testing, and were primarily motivated by concern for their family and a sense of altruism toward all leukemia patients. While drawbacks and barriers …


Attitudes Towards Prenatal Genetics Among Southeast And East Asian Women: A Qualitative Pilot Study, Ginger J. Tsai May 2016

Attitudes Towards Prenatal Genetics Among Southeast And East Asian Women: A Qualitative Pilot Study, Ginger J. Tsai

Dissertations & Theses (Open Access)

From 2000-2010, the Asian population in the United States grew five times faster than the overall US population. As Asians become incorporated into the US health care system, it is important to recognize cultural differences that may arise between Asian patients and their health care providers. Prior studies show that cultural values influence genetic perceptions within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the non-directive model of American genetic counseling conflicts with the historical Asian model of paternalistic health care. Previous studies also provide conflicting …