RESUMO
Genetic research, techniques, and knowledge have rapidly expanded in the last two decades with the completion of the Human Genome Project and other major advances in discovery research and diagnostic technologies. Although these developments have obvious potential, they also raise significant challenges related to programs for the actual delivery of useful genetic testing and services. This challenge is particularly acute in rural and remote areas, where lack of access to genetic services is pervasive resulting in significant inequities in access and availability of services. Huntington disease, the classic example of an adult-onset hereditary disorder, is used to illustrate this concern and highlight the imperative of exploring novel mechanisms to improve access to effective genetic services. The components of an effective and practical solution strategy are outlined, including the development of innovative delivery systems such as telemedicine, web-based education tools, and cost-reduction mechanisms. A proactive approach is essential to ensure the potential benefits, and availability of clinical genetics is realized by those in need rather than just those in reach.
Assuntos
Genética Médica/normas , Necessidades e Demandas de Serviços de Saúde , Testes Genéticos/ética , Testes Genéticos/provisão & distribuição , Genética Médica/ética , Necessidades e Demandas de Serviços de Saúde/normas , Humanos , Pobreza , População RuralRESUMO
We probably did not anticipate all the consequences of the direct to consumer genetic tests on Internet, resulting from the combined skills of communication and genomic advances. What are the commercial strategies used by the companies offering direct-to-consumer genetic tests on Internet and what are the different social expectations on which they focus? Through a quantitative and qualitative analysis of the web sites offering such tests, it seems that these companies target a triple market based on: the "healthism" which raises health and hygiene to the top of the social values; the contemporary demands of the users to become actual actors of health decisions; and finally on the need for bio-social relationships. These three commercial strategies underlie various ethical and societal issues justifying a general analysis.
Assuntos
Acesso à Informação , Testes Genéticos , Internet , Autocuidado , Acesso à Informação/ética , Acesso à Informação/legislação & jurisprudência , Acesso à Informação/psicologia , Atitude Frente a Saúde , União Europeia , França , Aconselhamento Genético , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/psicologia , Privacidade Genética , Testes Genéticos/ética , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/provisão & distribuição , Humanos , Internet/ética , Internet/legislação & jurisprudência , Marketing/ética , Marketing/legislação & jurisprudência , Marketing/métodos , Educação de Pacientes como Assunto , Participação do Paciente , Autonomia Pessoal , Medicina de Precisão , Risco , Autocuidado/ética , Autocuidado/psicologia , Autocuidado/tendências , Valores SociaisRESUMO
Statins are widely used in clinical practice for lowering of levels of atherogenic blood plasma lipids and treatment of atherosclerosis. Variability of response of the body to these drugs might be determined by genetic factors (gene polymorphisms) related to metabolism of drugs. Among them central place belongs to enzymes of subfamily 3A of cytochrome P450 (CYP). In this review we present results of studies assessing effect of various allele variants of CYP3A4 and CYP3A5 on efficacy and tolerability of atorvastatin, lovastatin,, and simvastatin in different populations of patients. We also present data on populational frequency of genetic polymorphisms under study. In addition we cover the problem of possible influence of apoE genotype on efficacy of statins. The available data do not allow yet to recommend pharmacogenetic testing for wide clinical practice.
Assuntos
Apolipoproteínas E/genética , Citocromo P-450 CYP3A/genética , Resistência a Medicamentos/genética , Inibidores de Hidroximetilglutaril-CoA Redutases/farmacocinética , Hiperlipidemias , Aterosclerose/genética , Aterosclerose/terapia , Disponibilidade Biológica , Biotransformação/genética , Testes Genéticos/provisão & distribuição , Genética Populacional , Hiperlipidemias/genética , Hiperlipidemias/terapia , Farmacogenética , Polimorfismo GenéticoAssuntos
Regulação Neoplásica da Expressão Gênica , Testes Genéticos , Oncologia , Neoplasias/diagnóstico , Neoplasias/genética , Kit de Reagentes para Diagnóstico , Sociedades Médicas , Competência Clínica , Aconselhamento Genético , Predisposição Genética para Doença , Privacidade Genética , Testes Genéticos/legislação & jurisprudência , Testes Genéticos/normas , Testes Genéticos/provisão & distribuição , Regulamentação Governamental , Política de Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Consentimento Livre e Esclarecido , Marketing de Serviços de Saúde , Oncologia/educação , Oncologia/legislação & jurisprudência , Oncologia/normas , Valor Preditivo dos Testes , Preconceito , Kit de Reagentes para Diagnóstico/normas , Kit de Reagentes para Diagnóstico/provisão & distribuição , Fatores de Risco , Sociedades Médicas/normas , Estados UnidosAssuntos
Aconselhamento Genético , Testes Genéticos , Genética Médica , Educação Médica Continuada/legislação & jurisprudência , Previsões , Aconselhamento Genético/provisão & distribuição , Aconselhamento Genético/tendências , Testes Genéticos/provisão & distribuição , Testes Genéticos/tendências , Genética Médica/tendências , Humanos , Estados Unidos , Recursos HumanosAssuntos
Informação de Saúde ao Consumidor/economia , Testes Genéticos/provisão & distribuição , Pesquisa Biomédica , Comércio , Informação de Saúde ao Consumidor/legislação & jurisprudência , Informação de Saúde ao Consumidor/métodos , Testes Genéticos/economia , Testes Genéticos/legislação & jurisprudência , Genoma Humano , Genômica , Humanos , Internet , Medição de RiscoRESUMO
The aim of this study was to assess public attitudes toward the availability and use of genetic tests to explore support for genomics developments and to help improve public discussion. Questionnaires to assess the assumed advantages and disadvantages of genetic testing were sent to a representative sample of the Dutch population (n = 1,308; age > or =25 years). The response was 63% (817/1,308). Two groups with extreme scores on a four-item scale were distinguished, representing opponents (n = 248) and supporters (n = 264) of the availability and use of genetic tests. Multiple logistic regression analyses showed that those who were familiar with a genetic disease (odds ratio [OR] 0.54; 95% confidence interval [CI] 0.32-0.89; p = 0.015), those who scored higher on a four-item scale on belief in personal benefits of testing (OR 0.29; 95% CI 0.21-0.40; p < 0.0001), and those who believe that knowledge of the genetic background of disease will help people to live more healthy lives (OR 0.48; 95% CI 0.37-0.62; p < 0.0001), were less likely to be opponents. Those who agreed that genetic testing is tampering with nature (OR 1.63; 95% CI 1.32-2.00; p < 0.0001) were more likely to be opponents. Other variables such as belief in genetic determinism, genetic knowledge, level of education, age, and gender were not significantly associated. These results suggest that in addition to moral acceptability, perceived usefulness is a precondition for supporting genetic testing. It is not expected that more information will necessarily result in more positive attitudes.
Assuntos
Atitude Frente a Saúde , Testes Genéticos/psicologia , Opinião Pública , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Testes Genéticos/provisão & distribuição , Acessibilidade aos Serviços de Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Psicologia , Medição de RiscoRESUMO
One example of the recent advances of scientific research on the human genome is the identification of two susceptibility genes to breast/ovarian cancer, BRCA1 and BRCA2, making possible the introduction in medical practices of genetic testing to detect patients with an increased risk of developing such cancers. In this context of diffusion, two surveys were carried out to appraise the activity profiles in 1998 and in 2001 of all the different participants in those new medical practices in France, physicians in charge of genetic counselling, medical centres where consultations take place and laboratories. Results show that over the period 1998-2001, few changes occurred, mainly the reduction of the average waiting time to get the result of a genetic test, the increase in the annual number of BRCA2 families identified to a level similar to the one of BRCA1 and the automation of the biological analyses without noting a considerable increase in the annual output of laboratories till 2001 however. This surprising moderate evolution must be connected to the existence of some particular external factors making the framework of the development of these new medical and biological practices and their future really uncertain. The diffusion of BRCA1/2 genetic testing has been carried out facing the traditional difficulties of any innovating activities, but also the uncertainties related to intellectual property rights on genes and the reimbursement of genetic counselling and biological testing. These uncertainties have certainly restrained the pace of change as many actors in this field have opted for a wait and see strategy bearing in mind the possible future constraints imposed to their future activity, especially if European patents on the BRCA1/2 genes are finally granted by the European patent office (EPO).
Assuntos
Neoplasias da Mama/diagnóstico , Testes Genéticos/provisão & distribuição , Neoplasias Ovarianas/diagnóstico , Neoplasias da Mama/genética , Feminino , França , Humanos , Neoplasias Ovarianas/genéticaAssuntos
Testes Genéticos , Prática Privada , Canadá , Testes Genéticos/provisão & distribuição , Humanos , PaternidadeRESUMO
Genetic research in human beings poses deep ethical problems, one being the problem of distributive justice. If we suppose that genetic technologies are able to produce visible benefits for the well being of people, and that these benefits are affordable to only a favored portion of society, then the consequence is obvious. We are introducing a new source of inequality. In the first section of this paper, I attempt to justify some concern for the distributive consequences of applying genetics to human beings. This concern transcends a mere preoccupation for material equality. I argue that genetic inequality can undermine the very basis of social cooperation, at least regarding health care. The second section is more practical. My aim is to defend how, at least in some legal and cultural frameworks (such as those clearly apparent in some Latin American countries), the undesired distributive consequences of genetics are more likely to arise and more difficult to avoid.