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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
11

Exploring the implications of genetic testing in mental health care

Elphick, Christopher January 2013 (has links)
Now is a time of dramatic change in mental health care as the world is witnessing a proliferation of research into the genetics of mental disorders. Despite several genetic test developments there is a paucity of qualitative research exploring the issues concerning its potential future introduction. This inspired my primary research question: What are the main implications regarding the developments being made in genetic testing for mental disorders in terms of their proposed introduction in a clinical setting? This was investigated through 33 semi-structured interviews with a range of psychiatric professionals from a single NHS trust location in the South West of England. As research has demonstrated that different medical professionals consider issues in mental health care in different ways (Colombo, et al. 2003 ; Fulford and Colombo, 2004) participants’ personal constructs of mental disorder were examined to see if their accounts of the tests differed on the basis of their unique conceptualisations of mental distress. An additional component feature in this research relates to what these developments may ultimately represent or provide psychiatry and mental health care as a result of being able to consider mental disorders in terms of underlying biology. Historically there has been a persistent attempt to determine the underlying genetic components of mental distress, however, this always seems to fail or the next big development is always ‘just around the corner’ - this observation is considered when the major developments in psychiatric genetics are examined in light of the sociological field of the ‘promissory nature of science’ (Borup, et al. 2006) - I suggest that the developments in genetic testing for mental distress represent an iconic continuation of this process. Interview transcripts were subjected to thematic analysis and five themes were developed that cover aspects such as how the tests’ introduction will alter perceptions in mental health care, issues concerning the tests’ practical impact, their possible shortcomings, and how they may alter clinical practice. My findings indicate that, in the majority of themes, personal approaches to mental disorder do appear to influence participants’ accounts of the tests. The overall trend is that if an interviewee personally endorsed a biological approach to understanding mental disorder they would be willing to see the tests used in clinical practice. There were two areas of thematic agreement between all psychiatric professionals regardless of their conceptualisations of mental disorder. These concerned the impacts genetic testing could have on different aspects of the legitimacy of mental disorders and the significance of using the tests to aid in treatment rather than diagnosis. Implications of my thematic findings for patient groups, mental health services, and policy makers are discussed.
12

On the Clinical Applicability and Translation of Genetic Discoveries in Schizophrenia

Costain, Gregory 07 January 2014 (has links)
Schizophrenia is a genetically complex neuropsychiatric disease. Myths and uncertainty about aetiology, and concerns about familial recurrence, may contribute to the significant stigma and burden on families. There has recently been concrete progress in understanding individual genetic causes of schizophrenia, which are now known to extend beyond 22q11.2 microdeletions to include other large rare copy number variations. However, there are limited data on issues germane to the translation of these genetic discoveries into clinical practice. The aim of this thesis was to evaluate the contemporary clinical applicability of genetic testing and genetic counselling in schizophrenia. First, general genetic counselling was provided to both adults with schizophrenia without individually relevant genetic test results and their family members. Pre-counselling, there was evidence of widespread misconceptions about schizophrenia aetiology and familial recurrence risks, which were associated with considerable psychological distress. Post-counselling, the myriad significant lasting benefits of genetic counselling included reductions in stigma. The results provided initial evidence of need for, and efficacy of, genetic counselling for schizophrenia. A first ever study was then conducted of the impact of providing a specific aetiological explanation for schizophrenia. Affected individuals and family members were found to value a molecular genetic diagnosis of a 22q11.2 microdeletion for its ability to explain the presence of stigmatized neuropsychiatric conditions. An investigation of transmission patterns and reproductive fitness associated with 22q11.2 microdeletions provided novel insights into the evolutionary biology and clinical correlates of this structural rearrangement. The results demonstrated the scientific and clinical benefits of identifying a genetic subtype of schizophrenia. Last, high resolution genome-wide microarrays were used to investigate rare copy number variations in a prospectively recruited community-based schizophrenia cohort. Clinically significant variants were greatly enriched in schizophrenia, even with 22q11.2 microdeletions a priori excluded. The collective prevalence of these genetic variants in a single community catchment area was high, approaching that seen in autism, where clinical microarray testing is now a first-tier diagnostic test. Collectively, the findings of these pioneering studies suggest a role for genetic testing and genetic counselling in the contemporary management of schizophrenia.
13

On the Clinical Applicability and Translation of Genetic Discoveries in Schizophrenia

Costain, Gregory 07 January 2014 (has links)
Schizophrenia is a genetically complex neuropsychiatric disease. Myths and uncertainty about aetiology, and concerns about familial recurrence, may contribute to the significant stigma and burden on families. There has recently been concrete progress in understanding individual genetic causes of schizophrenia, which are now known to extend beyond 22q11.2 microdeletions to include other large rare copy number variations. However, there are limited data on issues germane to the translation of these genetic discoveries into clinical practice. The aim of this thesis was to evaluate the contemporary clinical applicability of genetic testing and genetic counselling in schizophrenia. First, general genetic counselling was provided to both adults with schizophrenia without individually relevant genetic test results and their family members. Pre-counselling, there was evidence of widespread misconceptions about schizophrenia aetiology and familial recurrence risks, which were associated with considerable psychological distress. Post-counselling, the myriad significant lasting benefits of genetic counselling included reductions in stigma. The results provided initial evidence of need for, and efficacy of, genetic counselling for schizophrenia. A first ever study was then conducted of the impact of providing a specific aetiological explanation for schizophrenia. Affected individuals and family members were found to value a molecular genetic diagnosis of a 22q11.2 microdeletion for its ability to explain the presence of stigmatized neuropsychiatric conditions. An investigation of transmission patterns and reproductive fitness associated with 22q11.2 microdeletions provided novel insights into the evolutionary biology and clinical correlates of this structural rearrangement. The results demonstrated the scientific and clinical benefits of identifying a genetic subtype of schizophrenia. Last, high resolution genome-wide microarrays were used to investigate rare copy number variations in a prospectively recruited community-based schizophrenia cohort. Clinically significant variants were greatly enriched in schizophrenia, even with 22q11.2 microdeletions a priori excluded. The collective prevalence of these genetic variants in a single community catchment area was high, approaching that seen in autism, where clinical microarray testing is now a first-tier diagnostic test. Collectively, the findings of these pioneering studies suggest a role for genetic testing and genetic counselling in the contemporary management of schizophrenia.
14

Holding your breath: predictive genetic testing in young people

Duncan, Rony Emily Unknown Date (has links) (PDF)
A clash in perception is taking place. Some perceive predictive genetic testing in young people to be too potentially harmful to allow. Others perceive it to be an opportunity for benefit, even an opportunity for the prevention of harm. In this thesis I consider the issue of potential harm to mature young people who seek predictive genetic tests. / There are two parts to this thesis. In part one (chapters 1-4) I provide a background to the current debate. I describe the prohibitive stance purported within current guidelines, the arguments used to justify this stance and the opposition that has arisen in response. I discuss the psychological and social ways in which young people differ from adults, arguing that it is likely young people will react differently from adults in response to predictive genetic tests. However, I conclude that the lack of empirical evidence means we are unable to determine if these differences will confer a greater potential for harm or benefit when young people are tested. Finally, I present a discussion of two fundamental gaps in our knowledge about testing in young people: a lack of knowledge about current practice and a lack of first-hand evidence about the effects of testing. I argue that empirical research is required. / In part two of this thesis (chapters 5-7) I present the findings of my own empirical research. Firstly, I describe the findings of an international survey of clinical geneticists. Secondly, I describe the outcomes of 18 in-depth interviews performed with young people who have experienced predictive genetic testing for either Familial Adenomatous Polyposis or Huntington Disease. These young people ranged in age from 14 to 25 years. / The international survey uncovered 49 cases where predictive genetic tests had been provided to young people for non-medical reasons. When such tests are provided, the impacts are rarely followed-up as part of a formal research protocol. Clinicians’ reasons for providing and refusing tests are highly varied and are driven more by the nuances of individual cases than by any one ethical principle or set of guidelines. / When young people talk about the predictive genetic tests they have experienced, they refer to the entire experience of being at risk of a genetic condition, not simply the time after receipt of their test result. Young people speak about a far more extensive range of harms and benefits associated with the testing process than have been previously researched. / I argue that some young people growing up at risk of a genetic condition suffer several harms prior to their request for predictive genetic testing, because of their risk status. I argue that when we understand this, it becomes clear that for these mature young people who seek such testing, the provision of a test may not only serve to alleviate some of these harms, but may in fact create benefits for them, irrespective of their test result. In these cases, the provision of a predictive genetic test is appropriate, logical and ethical.
15

Public health genetics of Alzheimer's disease : from the identification of genetic risk factors to the public policies surrounding long-term care insurance /

Ramos, Erin Michele. January 2006 (has links)
Thesis (Ph. D.)--University of Washington, 2006. / Vita. Includes bibliographical references (leaves 93-102).
16

Visualization and Simulation of Variants in Personal Genomes With an Application to Premarital Testing (VSIM)

Althagafi, Azza Th. 28 November 2018 (has links)
Interpretation and simulation of the large-scale genomics data are very challenging, and currently, many web tools have been developed to analyze genomic variation which supports automated visualization of a variety of high throughput genomics data. We have developed VSIM an automated and easy to use web application for interpretation and visualization of a variety of genomics data, it identifies the candidate diseases variants by referencing to four databases Clinvar, GWAS, DIDA, and PharmGKB, and predicted the pathogenic variants. Moreover, it investigates the attitude towards premarital genetic screening by simulating a population of children and analyze the diseases they might be carrying, based on the genetic factors of their parents taking into consideration the recombination hotspots. VSIM supports output formats based on Ideograms that are easy to interpret and understand, which makes it a biologist-friendly powerful tool for data visualization, and interpretation of personal genomic data. Our results show that VSIM can efficiently identify the causative variants by referencing well-known databases for variants in whole genomes associated with different kind of diseases. Moreover, it can be used for premarital genetic screening by simulating a population of offspring and analyze the disorders they might be carrying. The output format provides a better understanding of such large genomics data. VSIM thus helps biologists and marriage counsellor to visualize a variety of genomic variants associated with diseases seamlessly.
17

GENOTYPIC SPERM SORTING: A less invasive “ART” to prevent Genetic Disorders in Newborns

Unknown Date (has links)
Genetic disorders like Cystic Fibrosis (CF) and X-linked Diseases (XLD) are inherited by offspring from parents who are healthy carriers of the autosomal recessive or allosomal genes. About 10-million Americans are healthy carriers of a mutant cysticfibrosis gene (predominantly F508del) and about 4% of newborns are at risk of being born with an X-linked disease. The current clinically approved mitigation plan for preventing genetic disorders in newborns from “at-risk couples” is to consider Preimplantation Genetic Testing for Monogenetic diseases (PGT-M). PGT-M involves an invasive microsurgical procedure that requires the removal of cells from 3-5day old embryos. To minimize this invasiveness, we proposed a less invasive approach to prevent genetic disorders in newborns by genotypically sorting sperm cells which may be used for fertilization events (IUI/IVF/ICSI) with specially characterized antigens on the sperm surface membrane. For the disease models being adopted in our study – CF and XLD; we utilized certain monoclonal antibodies (mab) to target the H-Y male antigen and the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein which are both selectively expressed on the sperm surface. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2021. / FAU Electronic Theses and Dissertations Collection
18

Experiences of Adolescents and their Parents after Receiving Genomic Screening Results for the Adolescent

Lillie, Natasha 29 September 2021 (has links)
No description available.
19

How Much We Tell Our Patients: Counseling Differences between Genetic Counselors and Other Providers.

Feldman, Jessica S. 16 June 2020 (has links)
No description available.
20

Laying the Foundation in Genetic Medicine: Understanding Why African Americans and Hispanic/Latinos are Underrepresented in Genetic Testing and in Genetic Research

Sutton, Karey Michelle 15 December 2010 (has links)
Genetic medicine is a field progressing at a rapid rate. Even with all the new advancements, there are still minority groups who are less visible when it comes to the uptake of some forms of genetic medicine. African Americans and Hispanic/Latinos have been shown to experience certain conditions more than Caucasians. In the 2008 African American profile for North Carolina, African Americans had higher age-adjusted mortality rates for heart disease, cancer, stroke, diabetes, kidney disease, and chronic liver disease (North Carolina State Center for Health Statistics, 2010). Hispanics/Latinos in North Carolina had higher incidence levels of cancer, HIV and kidney disease as opposed to other races (North Carolina State Center for Health Statistics (b), 2010). Despite these poor health outcomes, African Americans and Hispanic/Latinos are less visible when it comes to participating in medical genetics research opportunities and also in genetic testing (Shavers, Lynch, & Burmeister, 2002). Lack of participation among African-American individuals can attributed to mistrust, due to past misuse in clinical research settings such as the Tuskegee Syphilis Study and a variety of other factors (i.e. access to care, socioeconomic level) (Smith, Thomas, Williams, & Ayers, 1999). Among Hispanic/Latinos, concerns exist about immigration and governmental bias, as well as language barriers and cultural differences between the researcher and participant (Gelman, 2010). These cultural histories have become particularly salient as the field of genomics becomes increasingly reliant on initiatives to increase minority participation in research efforts. In order to explore beyond what previous quantitative studies have found, ethnographic research methods such as focus groups and semi-structured interviews were utilized to understand why members of these two heritage groups are underrepresented. The initial phase of my study was completing two separate focus groups, one with only African Americans and one with only Hispanic/Latinos. The information shared in the focus groups sessions revealed potential areas of exploration for the individual semi-structured interviews. Thus, I conducted 65 semi-structured interviews with African American individuals and 25 semi-structured interviews the other with only Hispanic/Latino individuals. The analysis of the interviews revealed that factors such as age, religion, education level, and finances play key roles in decisions about participating in genetic testing or genetic research. Understanding the views and concerns of African Americans and Hispanic/Latinos could not only help identify potential barriers to genomics research and testing, but could also provide effective means of overcoming them. As an outcome of my study I argued for the need for community input in setting the research agendas. Engaging the community in the design and implementation of genetics research can be a useful method of bridging the trust between minority communities and the research institution. Additionally, community-academic partnerships can be beneficial in addressing the barriers of genomics research and testing by providing useful collaborations in defining perspectives on race and genetics. Moreover, the information gained from community collaborations can be used to develop policy recommendations relating to genomics research (Jones & Wells, 2007). This study was not intended as advocacy for genetic testing, but to lay the foundation for understanding the health care decisions of African Americans and Hispanic/Latinos in this new era of genetic medicine. / Ph. D.

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