Guía de diagnóstico erróneo y segunda opinión

Diagnóstico erróneo en enfermedades raras

On their way to a confirmed diagnosis of a rare disease, many patients face a misdiagnosis. For example, it is believed that up to 56% of Ehlers Danlos patients receive a misdiagnosis at some point. This high rate of misdiagnosis causes untold issues and problems for patients and their families. It limits their access to the right medical care and the necessary support needed for living with a specific rare disease. It can lead to many years of frustration, doctor's visits, and an overwhelming lack of answers. For this reason, a second opinion is critical for patients seeking a diagnosis of a genetic syndrome. Fortunately, FDNA Health provides an online health platform that provides more information to patients and their families.

The platform also allows rare disease patients the ability to be able to seek a second opinion directly. It provides them with a fast, accurate genetic analysis which can put them on the road to a more accurate diagnosis. A second opinion should be about reaching a confirmed diagnosis, not providing a more vague analysis about which rare disease it might be. It needs to provide the genetic analysis that can help refer a patient to the specific genetic testing that will bring a definitive diagnosis.

Segunda opinión más precisa

Reducir la tasa de diagnósticos erróneos en el campo de las enfermedades raras no es una tarea fácil. Aún se desconoce mucho sobre las causas y los síntomas de muchos síndromes genéticos. Esto hace que llegar a un diagnóstico genético preciso sea un proceso largo y complicado. Sin embargo, el avance de la tecnología de inteligencia artificial, y específicamente la tecnología de análisis facial, está mejorando la velocidad y la precisión de Diagnóstico Genético, incluso cuando aún se están realizando investigaciones sobre las enfermedades raras en su conjunto. También les brinda a los pacientes con enfermedades raras y a sus familias la opción de una segunda opinión cuando más la necesitan.