Asesoramiento genitico y pruebas de genética síndrome, son servicios cruciales para los pacientes con enfermedades raras.

Sin embargo, los obstáculos para acceder a estos servicios a menudo significan que los pacientes se ven privados de asesoramiento y cuidados críticos. 

Que es asesoramiento genitico y prueba?

¿Qué es el Asesoramiento Genitico?

Genetic counseling is an important service for individuals facing a rare disease diagnosis. Asesoramiento genético is a must before anyone begins a genetic testing journey, and it provides key information, education, and support for patients and their families.

Pruebas genéticas involves any number of different tests to identify specific gene mutations or chromosomal changes, that might make a person a carrier for a genetic syndrome, or someone who is at high risk for developing a syndrome. 

Asesoramiento genitico y las pruebas, en su mayor parte, siempre se han realizado a través de citas y visitas en persona.

Asesoramiento Genitico y probando cerca de mí

Asesoramiento genitico y pruebas cerca de mí: los desafíos

Cuando se trata de buscar opciones genéticas y de asesoramiento cerca de casa, puede encontrarse con cualquiera de los siguientes desafíos:

There are no genetic counseling and testing services in your area. This is an issue specifically in rural, and remote areas, but even in smaller cities or urban centres, genetic counselors can be difficult to find.

There are no specialized genetic counseling and testing services in your area. Sometimes, depending on the rare disease diagnosis faced, you may need a specific type of genetic counseling and testing- perhaps for pediatric genetics, or genetics related to a cancer diagnosis, or a counselor who has experience with a specific rare disease. With just 12% of genetic counselors, in the US, specializing in pediatric genetics for example, these specialists can be hard to find at all, let alone close to you. 

Genetic counseling services in your area have long wait lists, and wait times for an appointment. This is a very real problem, as genetic testing options and awareness around rare diseases grows, placing pressure on crucial counseling services, and making them even more difficult to access.

Asesoramiento genitico y pruebas cerca de mí: ¿qué podrían significar estos desafíos para usted, como posible paciente con una enfermedad rara o como padre de un posible paciente con una enfermedad rara?

You will have to travel long distances to access genetic counseling and testing services. This can be time consuming, and expensive, and involve juggling multiple family schedules to make it work. This creates a large amount of stress for everyone involved. 

You may have a long wait to access genetic counseling and testing services. This wait can be very frustrating, especially if you are also having to manage the symptoms of a rare disease, without a confirmed diagnosis. Unfortunately long diagnostic times are still much too common when it comes to receiving a genetic diagnosis, and this can have a very detrimental impact on the lives of those with a possible rare disease, and their families too.

You may be faced with the possibility of yet another misdiagnosis. When access to key genetic services is limited, the chances of receiving an accurate diagnosis rise exponentially. Even just a delayed diagnosis can have a tremendous impact on the daily lives of a rare disease individual and their caregivers. An accurate, fast diagnosis is crucial in improving the lives of those with a genetic syndrome, in order to ensure they receive the right support, and possible treatment options as quickly as possible. We know that early intervention is key to improving the lives of individuals affected by a rare disease, and delivering this means quick access to genetic counseling and testing services.

Asesoramiento genitico y probando cerca de mí: la solución

Si tiene problemas para acceder asesoramiento genitico y servicios de pruebas cerca de usted, o en absoluto, puede ser el momento de considerar en línea asesoramiento genitico opciones. 

In recent years, online genetic counseling services are becoming increasingly available for those struggling to access these services near them. 

Online genetic counseling what to expect

Facilidad de uso: all you need is an internet connection, and a device with video capabilities. This means you can access online genetic counseling from your phone, tablet, or computer. 

Comfort: genetic counseling can be a difficult, albeit important, process for patients and their families. Being able to access this support from the comfort of your home, or other comfortable space, is very important and for many patients, it helps make the whole process less stressful. It also eliminates long journey times, and scheduling conflicts. 

Availability: many virtual genetic counseling services have a network of global counselors, allowing you to connect with a counselor from anywhere in the world, fast. This network of experienced experts means you can secure an appointment within hours, if necessary. It also means you can access specialist counselors, depending on the diagnosis you or your child may be facing. 

Para muchos padres, encontrar asesoramiento genitico y probar los servicios cerca de ellos, puede parecer una tarea casi imposible. Parece aún más difícil, cuando se tiene que tener en cuenta los largos viajes que se emplean para ir a las citas y los largos tiempos de espera para asegurar una cita. Esto solo sirve para complicar lo que ya es un viaje y un proceso muy difícil para muchas familias. 

En línea asesoramiento genitico y los servicios de prueba tienen como objetivo hacer que todo el proceso sea mucho menos desafiante, haciéndolo más rápido, más fácil de acceder y más preciso. Transformando, mientras lo hace, la forma en que buscamos y encontramos asesoramiento genitico y servicios de prueba. La ayuda y el soporte ahora están disponibles para todos los que lo necesiten. 

 

 

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