Test genéticos por aplicación y nivel de validez.

El departamento de genómica y salud pública del Centro para el Control y Prevención de Enfermedades (CDC) de los Estados Unidos ha publicado una base de datos, disponible en internet, que ofrece una lista de test genómicos, asociados con enfermedades particulares, así como la aplicación y el nivel de validación científica de estos tests. El sitio tiene como objetivo promover el intercambio entre científicos, médicos, el sector político y el público en general a fin de establecer un dialogo productivo que permita el uso de nuevas tecnologías en para mejorar la salud de las poblaciones. Dicha base de datos,puede ser de interés a las aseguradores que se enfrenten a la valoración de un riesgo genético. José Miguel Rodríguez-Pardo ..................................................................................... Se puede consultar en: http://www.cdc.gov/genomics/ Genetic tests have been developed for more than 2,200 diseases, of which about 2,000 are currently available for use in clinical settings. Most tests look at single genes and are used to diagnose rare genetic disorders, such as Fragile X Syndrome and Duchenne Muscular Dystrophy. In addition, some genetic tests look at rare inherited mutations of otherwise protective genes, such as BRCA1 and BRCA2, which are responsible for some hereditary breast and ovarian cancers. However, a growing number of tests are being developed to look at multiple genes that may increase or decrease a person’s risk of common diseases, such as cancer or diabetes. Such tests and other applications of genomic technologies have the potential to help prevent common disease and improve the health of individuals and populations. For example, predictive gene tests may be used to help determine the risk of developing common diseases, and pharmacogenetic tests may be used to help identify genetic variations that can influence a person’s response to medicines. There is much we still need to learn about how effective these new tests are, and the best way to use them to improve health.