RESUMEN
The multidiscipinary care of patients with intellectual disability requires a structured and systematic etiological process. Today, advances in technology make it possible to perform diagnostic genetic analyzes that are highly contributive in this process. The CGH-array (Comparative Genomic Hybridization array) makes it possible to search for chromosomal anomalies with a very high level of resolution; high throughput sequencing can detect gene abnormalities on the whole exome or on a panel of genes. For the patient the detection of genetic anomalies aims to improve the quality of care; for related parties, genetic counseling is systematically offered.
La prise en charge multidisciplinaire des patients présentant un handicap intellectuel impose la mise en Åuvre d'une démarche étiologique structurée et systématique. Les avancées technologiques permettent aujourd'hui la réalisation d'analyses génétiques diagnostiques très contributives. Le CGH-array (puce d'hybridation génomique comparative) permet de rechercher des anomalies chromosomiques avec un très haut niveau de résolution; le séquençage à haut débit permet de détecter des anomalies géniques sur l'exome entier ou sur un panel de gènes. Pour le patient, la détection d'anomalies génétiques a pour objectif d'améliorer la qualité de la prise en charge; pour les apparentés, un conseil génétique est systématiquement proposé.
Asunto(s)
Aberraciones Cromosómicas , Hibridación Genómica Comparativa , Discapacidad Intelectual , Asesoramiento Genético , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Discapacidad Intelectual/genéticaRESUMEN
Decree No. 2012-1116 of 2 October 2012 on medico-economic assignments of the French National Authority for Health (Haute autorité de santé, HAS) significantly alters the conditions for accessing the health products market in France. This paper presents a theoretical framework for interpreting the results of the economic evaluation of health technologies and summarises the facts available in France for developing benchmarks that will be used to interpret incremental cost-effectiveness ratios. This literature review shows that it is difficult to determine a threshold value but it is also difficult to interpret then incremental cost effectiveness ratio (ICER) results without a threshold value. In this context, round table participants favour a pragmatic approach based on "benchmarks" as opposed to a threshold value, based on an interpretative and normative perspective, i.e. benchmarks that can change over time based on feedback.
Asunto(s)
Benchmarking/normas , Análisis Costo-Beneficio , Atención a la Salud/economía , Equipos y Suministros/economía , Agencias Gubernamentales/legislación & jurisprudencia , Programas Nacionales de Salud/economía , Preparaciones Farmacéuticas/economía , Tecnología Biomédica/economía , Francia , Invenciones/economía , Años de Vida Ajustados por Calidad de VidaAsunto(s)
Estudios de Cohortes , Asociación entre el Sector Público-Privado/estadística & datos numéricos , Enfermedades Raras/terapia , Sistema de Registros , Conducta de Elección/fisiología , Ensayos Clínicos como Asunto/economía , Comercio , Descubrimiento de Drogas/economía , Descubrimiento de Drogas/métodos , Descubrimiento de Drogas/organización & administración , Industria Farmacéutica/economía , Industria Farmacéutica/métodos , Industria Farmacéutica/organización & administración , Europa (Continente) , Degeneración Hepatolenticular/etiología , Degeneración Hepatolenticular/terapia , Humanos , Producción de Medicamentos sin Interés Comercial/economía , Producción de Medicamentos sin Interés Comercial/métodos , Enfermedades Raras/economíaRESUMEN
Studies conducted in real clinical practice on drug prescription, drug use and consequences on patients and on the organizational scheme of treatments establish the basis of the evaluation of commercialized drugs when seeking renewal of their insurance coverage, anticipated reevaluation or safety issues. Time has come now for pharmaceutical companies to write a critical report on the operating procedures identifying the issues of the various operation phases (i.e.: conception, study conduct, use and interpretation of results). The report put forth various optimization axes through 17 concrete measures. Those measures concern several domains including the communication with Health Authorities, the necessity of specific methodological recommendations, a better involvement of partners, the improvement of the access to health databases, a better understanding of budget constraints, and more transparency in the evaluation process as well as in the interpretation of results.
Asunto(s)
Vigilancia de Productos Comercializados/métodos , Aprobación de Drogas , Industria Farmacéutica , Europa (Continente) , Vigilancia de Productos Comercializados/economía , Proyectos de InvestigaciónRESUMEN
Leem (French Pharmaceutical Companies) realized an inventory of unmet medical needs in 2006 in France for 12 pathologies. All of them are considered as national public health priorities by the law of August 9th, 2004. Allied to the epidemiological projections, analyses concerned various stages and/or pathology forms, impact of guidelines in clinical practice, therapeutic strategies, marketed therapeutics and pharmacological products in an advanced phase of clinical development. With more than 100 products listed in clinical phase III or pre-registration/marketed for those pathologies, French Pharmaceutical Companies contribute, quasi exclusively, to the development of innovative pharmaceutical products to answer unmet medical needs. This study illustrates the necessity of French Government to support therapeutic innovation led by Pharmaceutical Companies in France.
Asunto(s)
Quimioterapia/tendencias , Evaluación de Necesidades/tendencias , Investigación/tendencias , Industria Farmacéutica , Quimioterapia/economía , Quimioterapia/normas , Francia/epidemiología , Humanos , Obesidad/epidemiología , Obesidad/rehabilitación , Salud Pública/tendenciasRESUMEN
Multiplicity of inferences is present in a large majority of clinical trials and conducts to false analyses or interpretation issues. The main risk consists in false positive conclusions. A large number of statistical methods is available for controlling the rate of false positive conclusions. But formal adjustment is not necessary in all cases and depends on the aims of the study.