Tesis sobre el tema "Human Genome Project"
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Kozman, Helen. "The development of the genetic map of human chromosome 16 by linkage analysis /". Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phk884.pdf.
Texto completoIncludes publications and manuscripts by the author. Includes bibliographical references (leaves 196-215).
Tutton, Richard. "Representation and participation in the European Human Genome Diversity Project". Thesis, Lancaster University, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.289047.
Texto completoGill, Josephine Ceri. "Race, genetics and British fiction since the Human Genome Project". Thesis, University of Cambridge, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.610822.
Texto completoPaudel, Rajan. "An Investigation into the Evolution of Nucleotide Composition in the Human Genome". University of Toledo Health Science Campus / OhioLINK, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=mco1564404055416097.
Texto completoMcKeveney, Paul J. "Characterisation of novel erythropoietin-responsive genes". Thesis, Queen's University Belfast, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.301746.
Texto completoAllender-Hagedorn, Susan. "Arguing the Genome: A Topology of the Argumentation Behind the Construction of the Human Genome Project". Diss., Virginia Tech, 2001. http://hdl.handle.net/10919/28834.
Texto completoPh. D.
Hallam, Adrienne Louise. "Globalisation, Human Genomic Research and the Shaping of Health: An Australian Perspective". Thesis, Griffith University, 2003. http://hdl.handle.net/10072/367541.
Texto completoThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Science
Faculty of Science
Full Text
Tobin, Allison Claire Simmons. "Patenting human genetic sequences : a comparative analysis of intellectual property protection policies". Thesis, Georgia Institute of Technology, 1994. http://hdl.handle.net/1853/31043.
Texto completoBalmer, Brian L. "Mutations in the research system? The Human Genome Mapping Project as science policy". Thesis, University of Sussex, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.358200.
Texto completoPagani, Luca. "Through the layers of the Ethiopian genome : a survey of human genetic variation based on genome-wide genotyping and re-sequencing data". Thesis, University of Cambridge, 2013. https://www.repository.cam.ac.uk/handle/1810/251330.
Texto completoSouza, Miriam Karine de. "Termo de consentimento livre e esclarecido (TCLE): fatores que interferem na adesão". Universidade de São Paulo, 2005. http://www.teses.usp.br/teses/disponiveis/5/5154/tde-19032010-122410/.
Texto completoResearches engaging human beings pose ethical concerns since volunteers take on risks and inconveniences aiming to contribute to advanced scientific knowledge and to benefit others. The moment patients sign the term of voluntary and informed consent TCLE (Termo de Consentimento Livre e Esclarecido) they show they are willing to participate in clinical trials and that they understand the term and commit to complying with all rules in the document, aware that they can, at any moment, withdraw acceptance. The TCLE addresses all issues in the research process and are therefore important to the study participants. The information given at the TCLE must be clearly stated and easily understood, highlighting risks, possible benefits and procedures in addition to guaranteeing volunteer participation and consent withdrawal at any time during the trial. Lately, it has been speculated that the study participants do not totally understand the TCLEs text content and their participants rights before accepting the TCLE and joining the trial. This study analyzes the data from 793 patients, invited to take part in different protocols of clinical trials, as follows: 380 patients, invited to join the Clinic Cancer Genome Project Control Group; 365 patients, invited to join the Genome Clinic Cancer Genome of the Digestive System since they had one of the four tumors: colorectal cancer, cancer of the esophagus, cardia adenocarcinoma and gastric cancer; 48 patients were invited to join the International Multicenter double-blind, randomized, parallel-group, placebocontrolled study, with undisclosed sponsor, to determine the outcome of a 156-week treatment with MK-966(anti-inflammatory Anti-COX 2) in recurrent adenomatous polyp of the large bowel, in patients with a history of colorectal resection for adenoma at colonoscopy. Data were collected from previous scientific studies to assess study participants acceptance, correlating it to demographic factors (ethnic group, gender and age), social (birthplace, home place, health institution), cost/benefit and schooling. The level of difficulty in the TCLE texts was assessed with Flesch Reading Ease and Flesch-Kincaid readability measures. Interviewers answered a questionnaire a posteriori, to evaluate the study participants attitude toward the TCLE acceptance at the moment they signed it or did not accept it. The study participants acceptance of the suggested protocols was not influenced by demographic and social factors. However, patients from public health institutions (99,7%) outnumbered those from private health institutions (93,7%). Acceptance was higher among patients taking part in low-risk protocols (99,73%) than in high-risk protocols (81,3%). Although schooling did not influence acceptance, it was 8 years or less in 462 patients (58,26%), among who 444 (96,1%) were patients from public health institutions. The indices of legibility had varied of 9.9 - 12 for the test of Flesch-Kincaid and 33.1 - 51,3 for the test of Flesch Reading Ease. The results found in the application of the legibility tests had classified all the texts evaluated in level of difficult understanding, demanding higher school level for its agreement. Interviewers reported in questionnaires that 90% of the patients from public hospitals would rather listen to an explanation of the TCLE than read the text whereas in patients from private institution the percentage dropped to 40%. Only eleven study participants did not join the TCLE. Acceptance was not influenced by social and demographic factors, but the protocols risk levels influenced the study participants decisions. The evaluated texts proved to be difficult to understand, demanding over 9 years of schooling to be understood. This study suggests that, in spite of being highly accepted, the TCLE requires new application methods so that less educated people can properly understand its text contents.
Mandage, Rajendra 1984. "Understanding interactions between EBV and human genomic variation". Doctoral thesis, Universitat Pompeu Fabra, 2018. http://hdl.handle.net/10803/586328.
Texto completoWasserloos, Arnd. "Wessen Gene, wessen Ethik? die genetische Diversität des Menschen als Herausforderung für Bioethik und Humanwissenschaften". Berlin Weissensee-Verl, 2003. http://deposit.ddb.de/cgi-bin/dokserv?id=2689779&prov=M&dok_var=1&dok_ext=htm.
Texto completoDutta, Prabin. "A framework for integrating DNA sequenced data /". Online version of thesis, 2008. http://hdl.handle.net/1850/7931.
Texto completoCross, Kathleen Anne. "Traces of 'race' in science : a study of Whiteness in popular representations of the Human Genome (Diversity) Project". Thesis, Lancaster University, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.414942.
Texto completoCorrêa, Ricardo Garcia. "Geração de \"Etiquetas de sequências expressas\" dirigidas para porções codificadoras dos genes (Orestes): identificação de novos genes humanos expressos em câncer de mama". Universidade de São Paulo, 2001. http://www.teses.usp.br/teses/disponiveis/46/46131/tde-22112018-163046/.
Texto completoExpressed sequence tags (ESTs) are of fundamental importance for the identification of genes within the human genome and defining gene expression characteristics. In this work, we describe a new approach for generating cDNA libraries using essentially arbitrary primers to construct PCR-based minilibraries from breast tumor mRNA. Clones from these libraries were sequenced to generate 6,029 ESTs. Using this approach, we were able to observe a significant normalization of the different mRNA subpopulations and a preferential amplification of the central portions of the genes. Bioinformatic analysis of these sequences shows that 3,350 ESTs (56%) have significant similarity to known DNA and/or cDNA sequences (annotated sequences) from different organisms and 1,509 ESTs (25%) show no similarity to any sequences on different databases. From the annotated sequences, we have identified some sequences with high similarity to known genes from different organisms, indicating the discovery of some homologous genes possibly correlated with carcinogenic processes. For instance, we have isolated and partially characterized (i) a new NABC1 (novel amplified sequence in breast carcinoma 1) isoform which is downregulated in colorectal tumors, (ii) a novel semaphorin member of axon guidance molecules that is down-regulated in glioblastoma cell lines treated with all-trans-retinoic acid, an anti-tumor agent and (iii) the ortolog Notch 2 human gene, apparenty overexpressed in breast tumors with higher malignancy.
Batalha, Ana Rita Coelho. "O papel do farmacêutico na implementação de estudos de farmacogenómica: interação com a medicina familiar". Master's thesis, [s.n.], 2013. http://hdl.handle.net/10284/3957.
Texto completoNos dias de hoje existe uma preocupação acrescida de aumentar a segurança, efetividade e racionalização dos fármacos, pretendendo com isto otimizar as terapêuticas. Muitas vezes utiliza-se erradamente a Farmacogenómica como sinónimo de Farmacogenética. A Farmacogenómica é uma ciência promissora e em expansão, tendo como objetivo a terapêutica individualizada, diminuindo o risco das RAMs e da ineficácia do tratamento. Devido à sua formação, o papel do farmacêutico poderá ser uma mais-valia para esta área da terapia personalizada, prestando o seu conhecimento em fármacos. Esta dissertação divide-se em parte teórica e parte prática. Esta última consiste num estudo realizado através de um inquérito via-online, cujo objetivo é apurar o conhecimento de estudantes universitários sobre a Farmacogenómica. Nowadays there is a heightened concern of increasing safety, effectiveness and rationalization of drugs, intending to optimize this therapeutic. Often it is used incorrectly as a synonym for the Pharmacogenomics Pharmacogenetics. The Pharmacogenomics is a science promising and expanding, aiming to individualized therapy, reducing the risk of ADRs and treatment failure. Because of their training, the role of the pharmacist can be an asset to this area of personalized therapy, paying their knowledge in pharmaceuticals. This thesis is divided into theoretical and practical part. The latter consists of a study conducted through a survey via online-whose goal is to determine the knowledge of university students on Pharmacogenomics.
Cox, Hannah Claxton. "Genomic Analysis of Complex Disease in the Norfolk Island Bounty Mutineer Descendents". Thesis, Griffith University, 2011. http://hdl.handle.net/10072/365525.
Texto completoThesis (PhD Doctorate)
Doctor of Philosophy (PhD)
School of Medical Science
Griffith Health
Full Text
Martinez, Antonio. "Information management and the biological warfare threat". Thesis, Monterey, Calif. : Springfield, Va. : Naval Postgraduate School ; Available from National Technical Information Service, 2002. http://sirsi.nps.navy.mil/uhtbin/hyperion-image/02Mar%5FMartinez.pdf.
Texto completoMercier, Jean-Francois. "New modelling tools for the human genome project: 1 A study of the Ogston regime for small analytes and 2 Models for solid phase DNA amplification". Thesis, University of Ottawa (Canada), 2004. http://hdl.handle.net/10393/29141.
Texto completoHallam, Adrienne Louise y n/a. "Globalisation, Human Genomic Research and the Shaping of Health: An Australian Perspective". Griffith University. School of Science, 2003. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040812.114745.
Texto completoLeite, Marcelo. "Biologia total : hegemonia e informação no genoma humano". [s.n.], 2005. http://repositorio.unicamp.br/jspui/handle/REPOSIP/280489.
Texto completoTese (doutorado) - Universidade Estadual de Campinas, Instituto de Filosofia e Ciencias Humanas
Made available in DSpace on 2018-08-05T01:28:26Z (GMT). No. of bitstreams: 1 Leite_Marcelo_D.pdf: 18137235 bytes, checksum: d2ccf296709649c706ae95e568a4a4e8 (MD5) Previous issue date: 2005
Resumo: A tese central deste trabalho é que a aceitação pública despertada pelo Projeto Genoma Humano só se explica pelo uso político e retórico de um determinismo genético crescentemente irreconciliável com os resultados empíricos da pesquisa genômica atual. A complexidade verificada no genoma humano e em suas interações com o meio desautoriza a manutenção de uma noção simples e unidirecional de causalidade, contrariamente ao pressuposto na idéia de gene como único portador de informação, esteio da doutrina do determinismo genético. Um complexo de metáforas informacionais e/ou lingüísticas continuo vivo nos textos publicados por biólogos moleculares na literatura científica, notadamente nos artigos veiculados nos periódicos de alto impacto Nature e Science de 15 e 16 fevereiro de 2001, respectivamente. Tais metáforas inspiram um tipo de discurso ambíguo que modula nuances variadas de retórica determinista, conforme se dirija aos próprios pares ou ao público leigo" O campo da genômica ainda está longe de rejeitar a conjunção problemática das noções de gene pré-formacionista e de gene como recurso desenvo/vimenta/ na base da metáfora do gene como informação. Essa fusão inspirada pela terminologia cibernética propicia uma versão asséptica de gene, distanciada da natureza, puramente sintática, móvel e virtual o bastante para circular desimpedida nos circuitos de produção de valor como recurso genético passível de garimpagem e de patenteamento. Críticos dã tecnociência devem desafiar o campo da genômica a reformular drasticamente as metáforas que dão suporte a seu programa hegemônico de pesquisa
Abstract: The central thesis of this work is that the public support generated for the Human Genome Project and the hype surrounding it can be explained only by the political and rhetorical uses of genetic determinism, a notion which increasingly cannot be reconciled with the empirical results of on-going genomic research. The complexity that has been uncovered in the human genome and in its interactions with the environment implies that a simple and unidirectional notion of causality cannot be maintained, contrary to a presupposition of the idea of the gene as the sole carrier of iliformation, an idea that contributes to sustain the doctrine of genetic determinism. A complex of informational and/or linguistic metaphors lives on in the texts published by molecular biologists in the scientific press, most notably in the issues published February 15thand 16thof 2001 ofthe high impact journals Nature and Science, respectively. These metaphors generate an ambiguous type of discourse that modulates various nuances of deterministic rhetoric, depending on whether it addresses peers or the lay publico The field of genomics is still a long way ITom rejecting the questionable conflation of the notions of gene as preformation and gene as developmental resource which underpins the metaphor of gene as information. This conflation inspired by cybernetics terminology enables an aseptic version of the gene, separated ITom nature, portable and virtual enough to flow unimpeded through the channels ofvalue production as genetic resource suitable for mining and patenting. Critics of technoscience should challenge the field of genomics to drastically reshape the metaphors which have supported its hegemonic research agenda
Doutorado
Doutor em Ciências Sociais
Kusina, Jeanne Marie. "Seduction, Coercion, and an Exploration of Embodied Freedom". Bowling Green State University / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=bgsu1403637510.
Texto completoSauvage, Ulrich. "Assemblage de séquences ; séquençage des génomes". Montpellier 1, 1996. http://www.theses.fr/1996MON1T005.
Texto completoEchterhoff, Gisele. "O direito à privacidade dos dados genéticos / Gisele Echterhoff ; orientadora, Jussara Maria Leal de Meirelles". reponame:Biblioteca Digital de Teses e Dissertações da PUC_PR, 2007. http://www.biblioteca.pucpr.br/tede/tde_busca/arquivo.php?codArquivo=1061.
Texto completoInclui bibliografia
O presente trabalho tem como escopo analisar algumas transformações da sociedade no campo das ciências biomédicas, demonstrando que o Direito deve agir como uma ferramenta eficaz para regulamentar as inovações biotecnológicas relacionadas à Genética e ao
Il presente lavoro ha per scopo analizzare alcune trasformazioni della società nel campo delle scienze biomediche, dimostrando che il Diritto deve operare come uno strumento efficace a regolare le innovazioni biotecnologiche riguardanti la Genetica ed il
Zhivagui, Maria. "Genome-wide modeling of mutation spectra of human cancer-risk agents using experimental systems". Thesis, Lyon, 2017. http://www.theses.fr/2017LYSE1278/document.
Texto completoCancer genomes harbour a mosaic of mutation patterns from which thirty mutational signatures have been identified, each attributable to a particular known or yet undetermined causal process. Deciphering the origins of these global mutational signatures in full could help identify the causes of human cancer, especially for about 40% of those signatures identified thus far that remain without a known etiological factor. Thus, well-controlled experimental exposure models can be used to assign particular mutational signatures to various mutagenic factors.During the time frame of my PhD work, I characterized and employed innovative in vitro and in vivo models of carcinogen exposure, namely, primary Hupki MEF cells, HepaRG and lymphoblastoid cell lines as well as rodent tumors. The cytotoxic and genotoxic conditions for each tested exposure compound were established and DNA adduct formation was assessed in select cases. Following a pre-screen by TP53 gene sequencing, genome-wide sequencing of immortalized Hupki MEF clones derived from exposure to acrylamide, glycidamide and ochratoxin A was performed, alongside whole genome sequencing of ochratoxin A induced rat renal tumors. The results reveal a novel mutational signature of acrylamide mediated by its active metabolite, glycidamide, a pattern that can be explained by the parallel analysis of individual glycidamide-DNA adducts. In addition, an integrative mutation analysis using in vitro and in vivo models suggests a lack of direct mutagenicity for OTA and possible indirect effects due to the ROS-mediated mode-of-action in MEF cells. The presented robust experimental strategy can facilitate the interpretation of mutation fingerprints identified in human tumors, thereby elucidating cancer etiology, elucidating the relationship between mutagenesis and carcinogenesis and ultimately providing mechanistic evidence for IARC’s carcinogen classification
Cândido, Nathalie Carvalho. "O papel dos direitos de personalidade no combate à discriminação por motivos genéticos". Universidade de Fortaleza, 2012. http://dspace.unifor.br/handle/tede/89632.
Texto completoAdvances in biological research, especially in genetics, have a direct influence on medicine. The development of these surveys, especially those under the Human Genome Project, allows man can not only cure or prevent diseases through curative and preventive medicines, but also predict the disease, creating a predictive medicine, which generates information that may be used positively or negatively, with important repercussions in the legal universe. This study, entitled "Discrimination on grounds genetic" examines the consequences of using the so-called predictive medicine, having been developed through a literature review, aiming to identify the rights that may be effected by applying positive knowledge of human genetic data and rights that may be injured due to poor enforcement, seeking legal alternatives within the current legal system. Keywords: Genetic Discrimination, the Human Genome Project; Predictive Medicine; Biological determinism; Privacy genetics; Eugenia.
Os avanços das pesquisas biológicas, em especial da genética, têm influência direta na medicina. O desenvolvimento dessas pesquisas, principalmente as desenvolvidas no âmbito do Projeto Genoma Humano, permite que o homem possa não apenas curar ou prevenir doenças através das medicinas curativa e preventiva, mas também prever as doenças, criando a medicina preditiva, que gera informações que podem ser utilizadas de forma positiva ou negativa, com importantes repercussões no campo jurídico. O presente trabalho, intitulado O Papel dos Direitos de Personalidade no combate à Discriminação por Motivos Genéticos analisa as consequências da utilização da chamada medicina preditiva, tendo sido desenvolvido através de pesquisa bibliográfica, tendo como objetivos identificar os direitos que possam ser efetivados através da aplicação positiva do conhecimento dos dados genéticos humanos e os direitos que possam ser feridos em decorrência de sua má aplicação, buscando alternativas jurídicas dentro do ordenamento jurídico vigente. Palavras - chave: Discriminação genética; Projeto Genoma Humano; Medicina preditiva; Determinismo biológico; Privacidade genética; Eugenia.
Marin, Frédéric. "Diversification du répertoire génomique immun chez le mouton : analyse moléculaire du segment Vl et étude de sa possible implication sur le mécanisme de diversification somatique du répertoire B, première exploration du "locus" H et du processus dediversificatiom qui y opère". Paris 5, 1993. http://www.theses.fr/1993PA05P230.
Texto completoTran, Mau-Them Frédéric. "Séquençage de génomes entiers chez des patients avec anomalies du développement et négatifs en ACPA et séquencage d'exome : vers une médecine génomique?" Thesis, Bourgogne Franche-Comté, 2019. http://www.theses.fr/2019UBFCK093.
Texto completoA disease is considered rare when affecting less than 1/2,000 individuals. Currently, there are more than 8,000 rare disseases of which approximately 80% are of genetic origin. Among them, 3,000 are developmental anomalies (DA). Deployment of exome sequencing (ES) led to identify many different genes associated to rare or ultra-rare diseases. However, some patients remain without any explanation about the genetic cause of their pathology. Several reasons contribute to the limitation of ES but genome sequencing (GS) is expected to overcome them. We have performed various strategies for ES before undertaking GS in patients remaining undiagnosed at the molecular level.In a series of 70 patients without diagnosis after solo-ES, trio analysis allowed to identify candidate variants in 18/70 patients (26%), including 11 genes newly involved in human disorders (including IRF2BPL). We then evaluated the interest of a parental pool approach. In 57 patients with negative solo ES, retrospective parental pool analysis allowed to identify causal variants in 12 patients (21%). In 122 patients with prospective analysis, first-step parental pool ES allowed to identify causal variants in 40 patients (33%). Then, 36 patients with no molecular diagnosis after array-CGH and trio-ES benefited from trio-GS. In 11/36 patients (31%), 7 SNVs and 4 SVs were considered pathogenic.Therefore, a first approach with trio-ES is effective but expansive because of the additional costs of parental sequencing. Deployment of parental pool sequencing seems to represent an interesting alternative since it obtained a retrospective and prospective diagnostic rate of 21% and 33% respectively. GS identified pathogenic events in 11/36 patients (31%) including 4 SVs. In patients with AD, analysis of GS data focused on exonic variants and SVs is interesting for identifying new molecular causes and appears suitable for diagnostic purposes
Frisk, Maria. "Sju miljarder för sju minuter? : Planering, politik och hybrida geografier i tunnelbygget genom Hallandsås". Doctoral thesis, Karlstads universitet, Avdelningen för geografi och turism, 2008. http://urn.kb.se/resolve?urn=urn:nbn:se:kau:diva-1648.
Texto completoAyed, Nahlah. "Canadian newspaper coverage of the Human Genome Project". 2002. http://hdl.handle.net/1993/19570.
Texto completoLeal, Belita (Maria Isabel). "A map of life: An epistemological study of the Human Genome Project". Thesis, 1999. http://hdl.handle.net/1911/19399.
Texto completoGUPTA, ABHISHEK. "INDENTIFICATION OF DIFFERENTIALLY REGULATED GENES BETWEEN NORMAL AND TNF INDUCED IN HUMAN TRANSCRIPTOME". Thesis, 2021. http://dspace.dtu.ac.in:8080/jspui/handle/repository/19588.
Texto completoKozman, H. M. "The development of the genetic map of human chromosome 16 by linkage analysis / by Helen Kozman". 1994. http://hdl.handle.net/2440/18499.
Texto completoBibliography: leaves 196-215.
1 v. : ill. (some col.) ; 30 cm.
Title page, contents and abstract only. The complete thesis in print form is available from the University Library.
The goal of the human genome project addressed in this thesis, was the construction of a genetric linkage map with a resolution of between 2-5 cM by the year 1995.
Thesis (Ph.D.)--University of Adelaide, Dept. of Paediatrics, Women's and Children's Hospital, 1995
"The Human Genome Project and ELSI: The Imperative of Technology and the Reduction of the Public Ethics Debate". Master's thesis, 2012. http://hdl.handle.net/2286/R.I.14974.
Texto completoDissertation/Thesis
M.S. Biology 2012
Anyanwu, Chukwuma Eustace. "Bioinformatics and Pharmacogenomics in Drug Discovery and Development- a Socio-economic Perspective". Thesis, 2006. http://hdl.handle.net/1805/618.
Texto completoA plethora of genomic and proteomic information was uncovered by the U.S Human Genome Project (HGP) – mostly by means of bioinformatics tools and techniques. Despite the impact that bioinformatics and pharmacogenomics were projected to have in the drug discovery and development process, the challenges facing the pharmaceutical industry, such as the high cost and the slow pace of drug development, appear to persist. Socio-economic barriers exist that mitigate the full integration of bioinformatics and pharmacogenomics into the drug discovery and development process, hence limiting the desired and expected effects.
"Underwriting guidelines for genetic testing with special reference to the relevant ethical aspects". Thesis, 2012. http://hdl.handle.net/10210/5701.
Texto completoA revolution in genetic research, known as the Human Genome Project (HGP), is taking place. This project, initiated in 1984, is a twenty-year, six billion-dollar science project designed to map the entire genetic structure (Genome) of the human species (Brockett and Tankersley, 1995). In 1998, the HGP leaders expected to complete the project by 2003 (Lowden, J. A., 1999:33). The Human Genome Project is designed to sequence the human genome (the blue print of genetic information) and to identify the estimated 100000 genesherein. This has added a new dimension to the technology available to underwriters in the life and health insurance industry for the selection of medical risks. Genetic testing can identify inherited diseases and predict illnesses that might not manifest for decades (Brackenridge & Elder, 1998:89). Genome research has opened up new opportunities for diagnosis and in some cases, early treatment of medical conditions. This new basis of knowledge is referred to as the advent of the molecular age in medicine. Medical journals, the mass media and genetic interest groups are treating human genetics and the opportunities it presents as a high-profile issue, with great attention being paid to the complex and emotive topics of life insurance and genetic testing (Regenauer & Schmidtke, 1998:5). The Insurance Industry can use genetic testing to identify high-risk applicants more accurately and price products accordingly, thereby improving risk assessment and profitability. These potential advantages, however, are counter-balanced by ethical considerations that are much more difficult to address (Lowden, J. A., 1999:33). Many consumers, ethicists and geneticists fear that insurers will use this data for unfair discriminatory purposes, identifying a genetic underclass of people who, although clinically well, will be uninsurable. Genetic testing could invade the privacy of applicants and their families. There are concerns about the confidential handling of genetic information as well as the accurate interpretation of genetic tests. The uncertainty about the predictive value of genetic tests, the shortage of trained geneticists and counsellors and the psychological impact of that knowledge of a predictable serious disease might have, have lead to much opposition to the use of genetic information by third parties. In the United States most Americans receive health insurance through their place of employment. There are fears that genetic testing will be used to discriminate against prospective employees and render many people unemployable and uninsurable (Council for responsible Genetics, 1997: http://www.gene-watch.org/genclisc htuil Consumer groups have lobbied effectively for the prohibition of testing or the use of testing by insurers in the United States and Europe and legislators aim to ban the use of genetic information on a broad basis. Insurers, on the other hand, are assuming that the new laws will cause untold damage to the fiscal stability of their companies (Lowden, J. A., 1999:33). However, it seems inevitable that genetic testing will affect risk classification sooner rather than later and to a greater extent than most believe (Chambers, 1997: http://www.Inrc.com/epirr/issues/143/143-4.htm).
Marques, Vanessa. "Farmacogenética". Master's thesis, 2018. http://hdl.handle.net/10284/6651.
Texto completoCurrently, there is an enormous concern regarding the rational use of the medication with the consequent optimization of therapeutics. To achieve this, it is necessary to focus on two essential points: safety and effectiveness. Human beings can present different therapeutic responses when administered the same drug. This happens due to differences in age, weight, gender, health state, diet and also to genetics. Pharmacogenetics is currently facing a rapid expansion, being a discipline which studies the heritable variations that condition the individual response to drugs, particularly through pharmacokinetic and pharmacodynamic processes. This discipline contemplates not only the molecular mechanisms in the origin of the adverse reactions to medications, but also the biomarkers that allow the identification of people at risk. Accordingly, it is considered that pharmacogenetics has the tools that enable the construction of therapeutic responses directed towards the genetic profile of the individuals, taking the inter-individual variability. It is the main goal of personalized medicine to maximize the efficiency and minimize the risks of toxicity of the therapeutics for each individual. One of the great catalysts for the advancement of pharmacogenetics was the sequencing of the human genome, facilitating the study of the effect of genetic variations. This literature review aims at exhibiting a general vision of pharmacogenetics, introducing the basic concepts and show the applications already being executed in this area. To elaborate this review, a bibliographic research was conducted on databases such as Pubmed and ScienceDirect.