The carrier frequency for sickle cell anemia among Nigerians, who account for a high percentage of African immigrants in the United States, is high, according to the World Health Organization. Even though sickle cell disease contributes $2.4 billion annually to U.S. health care expenditures, ascertaining the number of affected individuals in the U.S. is difficult because sickle cell is not a reportable genetic disease. However, according to the Census Bureau, the number of African immigrants continues to grow at a steady pace among the foreign-born immigrant population in the U.S. There is a lack of research on the contribution of the immigrant population to the sickle cell incidence and mortality rates in the U.S. The purpose of this study was to examine the level of awareness and attitude of young Nigerian immigrants in the United States to sickle cell screening and premarital genetic testing. The health belief model constituted the study's theoretical foundation. It was assumed that the level of awareness of sickle cell disease and the romantic choices among young Nigerian college and graduate students in the United States would have a direct relationship. A sample of undergraduate and graduate students of Nigerian origin completed an online survey developed for the study. The results from SPSS analyses indicated that even though this population sample has a high knowledge and awareness of sickle cell disease, they are non-committal about adapting and implementing such knowledge when making romantic choices. In order to continue to reduce the burden of sickle cell disease on healthcare delivery in the United States, public health education programs that address the adaptation and implementation of knowledge about sickle cell disease are needed.

In vitro fertilization (IVF) is used to help infertile couples achieve a live birth. Clinical studies have suggested that multiple, consecutive cycles of IVF can increase live birth rate significantly. Others have documented improved live birth rates from the use of new laboratory techniques for preimplantation genetic screening (PGS). This genetic screening technique seeks to determine the ploidy of the embryo prior to implantation into the woman. To date, no study has examined the cost-effectiveness of using IVF in conjunction with PGS compared to that of IVF alone for 3 consecutive cycles in achieving a live birth. This study compared the incremental cost-effectiveness ratios (ICER) from each intervention arm based on the clinical probabilities for each outcome and this study was grounded in the protection motivation theory. Costs were obtained from secondary sources, such as the literature and government databases. The model was constructed using a decision-analytical approach that allowed for z test statistical analysis of the outcomes, where the ICER is the dependent variable and the independent variables are the 2 interventions. The robustness of the model was tested through univariate and probabilistic sensitivity analysis and stratified by age groups. The results showed that PGS with IVF was cost-effective for women aged under 40 and women aged 40-42, but not for women over 42. Based on a willingness-to-pay threshold of $100,000, IVF with PGS was the most cost-effective strategy in all age groups. The positive social change implication of this study is such that understanding the costs associated with a new technology to achieve a live birth is significant for society to help guide clinical treatment of these patients.

Hela det mänskliga genomet var sekvenserat i april 2003 och sedan dess har utvecklingen av genetisk testning avancerat snabbt. Sjuksköterskor kan komma att ha en central roll gällande att informera personer kring den genetiska testningen, rådgiva personer som genomgår genetisk testning och hjälpa dem att tolka resultaten. Genom att beskriva personers känslor kring att genomföra genetisk testning kan sjuksköterskor få hjälp till en ökad förståelse. Syftet var därför att beskriva personers känslor kring att genomföra en genetisk testning för genetiskt betingade sjukdomar med en möjlig dödlig utgång. För att få en överblick av det aktuella forskningsläget genomfördes en systematisk sökordsbaserad litteraturöversikt. Totalt tolv artiklar granskades och kodades. Resultatet presenteras i fyra teman: Rädsla och lättnad, som handlar om rädsla för sjukdomen, oro och ångest men också lättnaden när resultatet var negativt; Ovisshet kring hanterandet, där känslor av frustration, chock och orättvisa framkom men även förväntningar inför resultatet; Hopp och hopplöshet, vilket syntes som hopp inför framtiden och personlig kontroll samt en känsla av att vara besegrad, maktlös och förrådd; samt Gemenskap och utanförskap inom familjen, som uppstod i relation till andra där känslan av att vilja dölja samt behov av stöd var framstående. Då hälsa är vårdandets mål diskuteras resultatet utifrån Katie Erikssons hälsokors samt i förhållande till hälsa som rörelse. Ytterligare forskning och utbildning krävs för att sjuksköterskor ska erhålla kunskap om personcentrerat vårdande genom processen av genetisk testning. / The human genome was sequenced in April 2003 and since then genetic testing has developed rapidly. Nurses may come to have a central and significant role regarding informing people about all the potential outcomes of genetic testing, advising people undergoing genetic testing and helping them interpret the results. By describing people's feelings about implementing genetic testing, nurses be helped to a better understanding and ability to perform a person-centered care. The aim was therefore to describe people's feelings about implementing a genetic testing for genetic diseases with possible fatal outcome. To get an overview of the current state of research, a systematic search-terms-based literature review was performed. A total of twelve articles were reviewed and coded, resulted in four themes: Fear and relief, which is about fear of the disease, worry and anxiety but also relief when the result was negative; Uncertainty surrounding the handling, where feelings of frustration, shock and injustice emerged but also expectations for the outcome; Hope and hopelessness, which appeared as a hope for the future and personal control but also a sense of being defeated, powerless and betrayed; and Community and exclusion within the family, which arose in relation to others where feeling of wanting to hide and needs of support were prominent. The goal of caring is health. The result of this study is therefore discussed with reference to Katie Eriksson's health cross and in relation to health as a movement. Further research and education is required for nurses to obtain knowledge about person-centered care through the process of genetic testing.

Diss. (sammanfattning) Linköping : Linköpings universitet, 2005. / Härtill 4 uppsatser.

Thesis (M.S.)--Brandeis University, 2009. / Title from PDF title page (viewed on May 29, 2009). Includes bibliographical references.

A detailed family health history is currently the most potentially useful tool for diagnosis and risk assessment in clinical genetics. We developed and evaluated the usability and analytic validity of a patient-driven web-based family health history collection and analysis tool. Health Heritage © guides users through the collection of their family health history by relative, generates a pedigree, completes risk assessment, stratification, and recommendations for 89 conditions. We compared the performance of Health Heritage to that of Usual Care using a nonrandomized cohort trial of 109 volunteers. We contrasted the completeness and sensitivity of family health history collection and risk assessments derived from Health Heritage and Usual Care to those obtained by genetic counselors and genetic assessment teams. Nearly half (42%) of the Health Heritage participants reported discovery of health risks; 63% found the information easy to understand and 56% indicated it would change their health behavior. Health Heritage consistently outperformed Usual Care in the completeness and accuracy of family health history collection, identifying 60% of the elevated risk conditions specified by the genetic team versus 24% identified by Usual Care. Health Heritage also had greater sensitivity than Usual Care when comparing the identification of risks. These results suggest a strong role for automated family health history collection and risk assessment and underscore the potential of these data to serve as the foundation for comprehensive, cost-effective personalized genomic medicine.

Indiana University-Purdue University Indianapolis (IUPUI) / This thesis critically evaluates the progress of prenatal genetic testing, and how it, along with concurrent social pressures (such as the goal of having the ideal child) may have altered parental decision-making, autonomy, and attitudes toward children. Distinctive to this thesis is the analysis of prenatal genetic testing with a view of the eugenic history of genetics and public health initiatives in maternal health. This thesis will describe what current genetic screening pursuits may indicate with this historical understanding. I will discuss the dynamics of these subjects, and how they correspond with current social demands for perfection and the growing commodification of children. With this analysis I will attempt to shed greater light upon how our current prenatal screening technologies can modify the parent/child relationship, and what this may mean as medical science and technology advance. This thesis will be organized in a three-chapter format, providing a historical viewpoint and analysis of salient ethical issues.

O desenvolvimento de uma abordagem de estratificação de risco para a doença arterial coronária é certamente uma ferramenta de grande utilidade para o cardiologista clínico ou clínico geral, assim como para o planejamento de saúde pública e organização de ações de saúde pública mais eficazes. No entanto, esse conhecimento deve ser discutido dentro de um cenário de custo-efetividade e de acordo com seu potencial como objeto de valor econômico. O presente estudo tem como objetivo a identificação de fatores de risco genético de eventos cardiovasculares na população brasileira e o desenvolvimento de um algoritmo preditor que utilize essas informações para o diagnóstico. Esse trabalho encontra-se expositivamente dividido em dois módulos. No primeiro, procuramos exemplificar através de um estudo de associação genética nossa capacidade atual de encontrar e caracterizar variantes genéticas com poder de estratificação populacional com relação ao risco cardiovascular. Utilizamos dados obtidos a partir de pacientes com doença coronária multiarterial, analisando a relevância do polimorfismo C242T do gene da p22phox, subunidade protéica da NADPH oxidase, na predição de mortalidade desta população. Nossos dados permitem não apenas associar esse marcador genético a um risco aumentado de mortalidade nessa população, mas também fornecem informações a respeito do provável mecanismo molecular através do qual esse marcador genético age. No segundo módulo, procuramos detalhar as limitações da abordagem previamente exemplificada, avaliando a informação gerada para o paciente individual. Aqui propomos uma nova abordagem de estratificação de risco desta população, capaz de fornecer de maneira individualizada uma estimativa de risco com maior sensibilidade, especificidade e, conseqüentemente, acurácia. Através de uma abordagem analítica de redução de dimensionalidade obtivemos um algoritmo preditor com acurácia maior do que aquela encontrada utilizando-se apenas os fatores de risco clássicos ou fatores de risco genéticos analisados individualmente. O entendimento das bases genéticas do desenvolvimento de doenças cardiovasculares facilitará não apenas o diagnóstico precoce, possibilitando o surgimento de abordagens terapêuticas mais específicas e desenhadas a atender suscetibilidades individuais, mas também poderá levar à identificação de novas vias eficazes de intervenção. / The development of risk stratification approaches in coronary artery disease is certainly an important tool for the clinical cardiologist or internist. It also helps in the planning of public health policies and in the development of effective disease management algorithms. Nevertheless, these tools necessarily have to be developed in a cost-effective scenario and in close relationship with its intrinsic economic value. The present research project aims at the identification of genetic risk factors for cardiovascular events in the Brazilian population and the development of an algorithm with high predictive value for the diagnosis of these events. This thesis is, didactically, divided into 2 modules. Firstly, we have exemplified the used paradigm through the development of a genetic association study conducted in the Brazilian population. Here, we were able to describe and characterize genetic variants with the capacity of risk stratify populations into high and low risk groups. This section was possible with the use of data derived from patients with multi-vessel coronary artery disease and the analysis of the C242T gene variant of the p22phox gene, a subunit of the NADPH oxidase protein complex. Our data show not only a major signal of association between this genetic variant and overall mortality in this population, but also shed light on the potential molecular mechanism of this finding. Secondly, we have described the potential limitations of this approach analyzing information derived for the individual patient. Here, we propose a new risk stratification algorithm for this population with the capacity to provide individual risk with increased sensitivity and specificity. Through the use of a dimensionality reduction analytical approach we were able to find a predictive algorithm with higher accuracy than the one derived with the use of only classical cardiovascular risk factors and no genetic information. The understanding of the genetic basis for cardiovascular disease will improve not only the early diagnosis of these disorders, facilitating the rise of therapeutic approaches more specific and tailored to ones particular genetic susceptibility, but also lead to the identification of new pathways for effective intervention

Sy, Hing Yee. / Thesis (Ph.D.)--Chinese University of Hong Kong, 2011. / Includes bibliographical references (leaves lxxiv-xciv). / Electronic reproduction. Hong Kong : Chinese University of Hong Kong, [2012] System requirements: Adobe Acrobat Reader. Available via World Wide Web. / Abstract also in Chinese; appendixes I-III in Chinese.

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