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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.
1

Counseling following direct to consumer genetic testing for Alzheimer's disease

Thomas, Melissa 09 November 2019 (has links)
Direct to consumer (DTC) personal genetic testing (PGT) is a popular choice for individuals in the United States who are interested in learning more about their genetic health risks without formally seeing a medical professional. The company 23andMe offers FDA-approved genetic risk tests for conditions including late-onset Alzheimer’s Disease (AD), Parkinson Disease, Celiac Disease, and the BRCA1/2 mutations. Although this company’s genetic risk testing results are accompanied by a generic information sheet regarding what each individual’s result means for each condition, formal genetic counseling is not included in the service. However, when a condition such as late-onset AD has both known genetic and behavioral risk factors, counseling becomes essential in preventing or delaying disease onset. Following a Mediterranean-style diet, regularly exercising, and regularly participating in cognitive activities (e.g. reading the newspaper or playing a musical instrument) are each thought to be protective against developing late-onset AD. Previous studies have shown that customers do not usually make significant lifestyle modifications after completing DTC PGT, though the majority of this literature may not be relevant to late-onset AD as it included customers of DTC PGT companies that no longer exist today and the genetic risk test for late-onset AD at that time was not yet approved by the Food and Drug Administration. The proposed study is an interventional study that will compare DTC PGT customer exercise, diet, and cognitive activity habits before and after a personalized genetics counseling session. Exercise will be measured using the Godin-Leisure Time Exercise Questionnaire. Diet will be evaluated by a validated food frequency questionnaire evaluating daily servings of fruits, vegetables, and unprocessed nuts. Cognitive activity at the time of survey will be evaluated by a questionnaire asking for the frequency of various cognitive activities, such as reading newspapers, reading books, artistic activities, and social activities.
2

Consumer interactions with online genetic testing results : a lesson in health literacy / Lesson in health literacy

Floyd, Alix Elizabeth 21 February 2012 (has links)
This article reports on consumer interactions with and impressions of self-administered online genetic testing results through a direct-to-consumer (DTC) genetic testing service, 23 and Me. Participants in this study point out a clear need for greater education about genetic testing services, increased considerations of health literacy barriers in results communication, and point to larger marketing, advertising, and public health industry implications as they relate to DTC genetic testing. / text
3

The utilization and outcome of diagnostic, predictive and prenatal genetic testing for Huntington disease in Johannesburg from 1998 to 2006

Sizer, Elaine Bernadene 11 May 2009 (has links)
ABSTRACT Huntington Disease (HD) is a neurodegenerative disorder that is inherited in an autosomal dominant manner, and for which testing is available. The aim of this retrospective file-based study was to analyse the numbers and demographics of individuals who had diagnostic, predictive or prenatal genetic counselling and/or testing for HD between January 1998 and December 2006 through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg. Files for 287 individuals who had genetic counselling and/or testing for HD were included in this study, with 77% being diagnostic cases, 20% predictive and 3% prenatal. When the results obtained in this study were compared to a study by Kromberg et al. (1999) done previously in the same Division, it was found that there has been an increase in the number of diagnostic and predictive tests done per year during this study, with diagnostic tests making up a greater percentage of the total number of tests performed. One of the objectives of this study was to characterise the individuals who requested HD testing and to compare the characteristics of those in the diagnostic testing group to those in the predictive testing group. The median age of the individuals in the predictive testing group was 30 years, which was significantly different from the median age of 49 years for individuals in the diagnostic testing group (p<0.001). It was found that there were significantly more women than men requesting predictive testing (p=0.02), while the number of males and females in the diagnostic testing group was similar (p=1.00). There was also a greater percentage of employed (76.4%) versus unemployed (23.6%) individuals in the predictive testing group, while the percentages of employed and unemployed individuals in the diagnostic testing group were similar (45.5% and 54.5% respectively). Significantly more individuals in the diagnostic testing group had children (74.5%) compared to those in the predictive testing group, where 44.6% of individuals had one or more children. There was a greater percentage of white individuals in the predictive testing group (91% white; 3.5% black) compared to the diagnostic testing group (48% white, 42% black). The completion rate of the predictive testing process was 66.7%. In the predictive testing group, 39.5% of individuals tested positive for HD, and in the diagnostic testing group 53% of individuals tested positive for HD. Nine prenatal tests were requested by five different couples, and 7 tests were performed. Three of these fetuses tested positive for HD (including a set of twins) and these two pregnancies were terminated. Overall, there seems to be a lack of awareness of and/or access to the genetic services offered for HD through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, particularly among black individuals and the professionals treating them. Information generated from this study can be used to understand the individuals seeking genetic counselling and/or testing for HD better, and can direct efforts to improve awareness and access amongst groups noted to be under-represented. It also serves as a starting point for further research.
4

Precision health and deafness–optimizing genetic diagnosis

Sloan-Heggen, Christina Marie 01 May 2018 (has links)
Deafness is the most common sensory deficit in humans. In the United States 1-2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the ultimate form of precision health and medicine; it can provide education, impact medical testing and treatment, provide peace of mind, and someday will be the key to providing gene specific therapies. Historically, providing this diagnosis was difficult, expensive, and time consuming due to the extreme clinical and genetic heterogeneity of non-syndromic hearing loss (NSHL). Targeted genomic enrichment and massively parallel sequencing (TGE+MPS) have revolutionized the field of precision health and medicine, allowing for comprehensive genetic diagnosis of many complicated conditions, including NSHL. To take advantage of this advance in technology, the OtoSCOPE® platform was created, targeting all known deafness-causing genes and creating the first comprehensive genetic test for this condition. With the implementation of OtoSCOPE® we aspire to accomplish two aims: providing comprehensive genetic diagnosis for patients all over the world and characterizing the full spectrum of hereditary hearing loss. The goal of my thesis work has been to use OtoSCOPE® to better understand the landscape of NSHL in multiple populations and to use this knowledge to further optimize it to be the most effective and tailored diagnostic tool possible for individuals with deafness. In order to achieve these goals, we investigated a few unique populations. We first evaluated the effectiveness of diagnosis of OtoSCOPE® on two preselected cohorts of 302 Iranian and 9 Cameroonian probands with autosomal recessive NSHL (ARNSHL). We can now better define the frequent causes of NSHL in Iranians with a high degree of inbreeding, and begin to understand the spectrum of deafness in Sub-Saharan Africa that has previously been underutilized. Next we sought to determine the spectrum of hearing loss within a clinical cohort in the United States by evaluating 1119 sequentially accrued probands for whom the OtoSCOPE® panel was ordered as a diagnostic test. This analysis allowed us to determine the overall diagnostic success of OtoSCOPE® (39%), the most common genes responsible for NSHL, the overall breadth of genes that can be identified within a cohort like this (49 genes), and patient characteristics which impact the likelihood of providing a positive diagnosis. This study permitted us to recommend use of OtoSCOPE® or other TGE+MPS diagnostic tools early in the diagnostic process of a patient with NSHL. Finally, we interrogated the contribution of syndromic forms of deafness which may actually manifest as NSHL (NSHL mimics) within two deafness cohorts. We performed a retrospective chart review of 14 families with syndromic deafness seen by the Genetic-Eye-Ear Clinics to determine which methods are the most efficient and effective at providing an accurate diagnosis through the combination of collaborative clinical and molecular genetic diagnostic tools. We also performed a secondary analysis of 2384 sequentially accrued probands clinically evaluated with OtoSCOPE®, specifically evaluating the impact of panel versioning and inclusion of additional NSHL mimics. We recommend use of OtoSCOPE® as a diagnostic tool to most patients with apparent NSHL, and utilize an automatic positive feedback loop to ensure the most comprehensive and accurate diagnosis possible. All of these studies have lead to the better understanding of the genes and variants that cause NSHL and its mimics, providing a more accurate genetic diagnosis, which is prerequisite to a future of targeted genetic therapies.
5

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.
6

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.
7

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.
8

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).
9

Complex management of a patient with refractory primary erythromelalgia lacking a SCN9A mutation

Low, Sarah, Robbins, Wendye, Tawfik, Vivianne 04 1900 (has links)
A 41-year-old woman presented with burning and erythema in her extremities triggered by warmth and activity, which was relieved by applying ice. Extensive workup was consistent with adult-onset primary erythromelalgia (EM). Several pharmacological treatments were tried including local anesthetics, capsaicin, ziconotide, and dantrolene, all providing 24-48 hours of relief followed by symptom flare. Interventional therapies, including peripheral and sympathetic ganglion blocks, also failed. Thus far, clonidine and ketamine have been the only effective agents for our patient. Genetic testing was negative for an EM-associated mutation in the SCN9A gene, encoding the Na(V)1.7 sodium channel, suggesting a mutation in an alternate gene.
10

How gene tests travel : bi-national comparison of the institutional pathways taken by diagnostic genetic testing for Maturity Onset Diabetes of the Young (MODY) through the British and the German health care system

Petkova, Hristina January 2008 (has links)
Scientific developments in genetics receive great public and political attention. However, genetic tests as medical innovations need to travel from the laboratory to the individual patient in order to fulfil the goal that makes the science so attractive. A medical innovation has to pass through the institutions of diverse health care systems. This thesis compares how the structures of two very different health care systems in Europe (Germany and the UK) foster or hinder the diffusion of genetic technologies. It presents a detailed analysis of the institutional pathways involved in order to discuss whether and in which way the kind of medical innovation that genetic testing represents is accommodated. The case study used for analysing the passage of a genetic test in both countries is diagnostic testing for Maturity Onset Diabetes of the Young (MODY). This example has the idiosyncratic dimension that it had strong support by scientists and government when the UK Government prioritized genetics in health policy. However, MODY testing was chosen for this study because MODY is a ‘simple’ monogenetic test, and it is one of the few at present that are both reliable and lead to altered treatment with a better quality of life for the patient. MODY represents, according to the current state of genomic knowledge, a prime example of what genetics is likely to deliver at best over the coming decades. In brief, the comparison of the pathways MODY travelled and the degree to which it reached patients successfully shows that both systems are not optimally set up to exploit what MODY genetic testing has to offer, but that the vertical structure and centralization in the UK system fit the needs of genetic medical innovations better than the horizontal, diversified and market oriented structures dominating the German health care system.

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