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Articles 1 - 9 of 9
Full-Text Articles in Medicine and Health Sciences
The Need For Racial And Ethnic Health Disparity Curriculum In Genetic Counseling Programs, Yusra Aziz
The Need For Racial And Ethnic Health Disparity Curriculum In Genetic Counseling Programs, Yusra Aziz
Dissertations & Theses (Open Access)
Racial and ethnic health disparities (REHD) exist across all organized medicine, including the spectrum of genetic counseling, particularly in genomic testing and access to care. While cultural competency and health disparities have been included as a part of the Standards of Accreditation for Genetic Counseling, there have not been previous efforts to define what topics related to REHD are most important to include in graduate program curriculum. Therefore, this study aimed to determine what topics related to REHD should be taught in genetic counseling program curriculum by assessing what topics genetic counselors (GCs) learned about and in what settings, …
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 …
Examining The Relationship Between Genetic Counselors’ Implicit Attitudes Toward Disability And Their Practice Methods, Helen W. Gould
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
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 …
Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities, Lauren Fleddermann
Current Genetic Counseling Practice Following Positive Non-Invasive Prenatal Testing For Sex Chromosome Abnormalities, Lauren Fleddermann
Dissertations & Theses (Open Access)
The purpose of this study was to describe current prenatal and pediatric genetic counseling practice following a non-invasive prenatal testing (NIPT) result positive for a sex chromosome abnormality (SCA). The positive predictive value for SCA with NIPT is lower than seen for Trisomy 21 due to natural loss of the X chromosome from maternal cells during aging, confined placental mosaicism, and undiagnosed maternal sex chromosome abnormality. Except for 45,X, individuals with SCA usually have no ultrasound or postnatal findings. This makes follow-up for unresolved positive NIPT necessary; however, there are currently no clinical guidelines. This study used a prospective anonymous …
Patient Attitudes Toward Genetic Testing For Inherited Predispositions To Hematologic Malignancies, Taylor Beecroft
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
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 …
Spiritual Exploration In The Prenatal Genetic Counseling Session, Katelynn G. Sagaser
Spiritual Exploration In The Prenatal Genetic Counseling Session, Katelynn G. Sagaser
Dissertations & Theses (Open Access)
Religion and spirituality are important components of many individuals’ lives, and spiritual needs may present among persons receiving medical care. Spirituality has been demonstrated to be significant in the coping of women experiencing pregnancy complications (Breen et al. 2006; Price et al. 2007). To characterize the manner in which prenatal genetic counselors might address spiritual issues with their patients, we surveyed 283 patients receiving prenatal genetic counseling using the Brief RCope and a series of questions that examined interest in spiritual exploration. Counselors were concurrently surveyed to identify the spiritual language used within the session and the counselor’s perceived importance …
Latinas And The Traditional Genetic Counseling Model: A Qualitative Study, Stephanie Thompson
Latinas And The Traditional Genetic Counseling Model: A Qualitative Study, Stephanie Thompson
Dissertations & Theses (Open Access)
The traditional genetic counseling model reflects an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance providing educational information with discussion of implications of this information in an allotted amount of time. The aim of this study was to explore the perceptions of pregnant Latinas on the benefits and limitations of the traditional prenatal genetic counseling model and to determine the specific preferences for receiving prenatal genetic counseling. Data were collected through focus groups and one-on-one, semi-structured interviews of twenty-five Spanish speaking Latinas …