Aconselhamento genitico e testes de genética síndromes, são serviços essenciais para pacientes com doenças raras.

No entanto, os obstáculos ao acesso a esses serviços muitas vezes significam que os pacientes são privados de aconselhamento e cuidados essenciais. 

O que é aconselhamento genitico e testando?

O que é Aconselhamento Genitico?

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

Teste genético 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. 

Aconselhamento genitico e os testes, em sua maior parte, sempre foram conduzidos por meio de consultas e visitas pessoais.

Aconselhamento Genitico e testes perto de mim

Aconselhamento genitico e testando perto de mim: os desafios

Quando se trata de procurar opções genéticas e de aconselhamento perto de casa, você pode se deparar com qualquer um dos seguintes desafios:

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.

Aconselhamento genitico e testes perto de mim: o que esses desafios podem significar para você, como um possível paciente com uma doença rara ou pai de um possível paciente com uma doença 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.

Aconselhamento genitico e testando perto de mim: a solução

Se você estiver enfrentando problemas para acessar aconselhamento genitico e serviços de teste perto de você, ou em todos, pode ser hora de considerar online aconselhamento genitico opções. 

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

Fácil de usar: 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 muitos pais, encontrar aconselhamento genitico e testar serviços próximos a eles pode parecer uma tarefa quase impossível. Parece ainda mais difícil quando temos que levar em consideração as longas viagens gastas em viagens para compromissos e longos tempos de espera até mesmo para garantir um compromisso. Isso só serve para complicar o que já é uma jornada e um processo muito difícil para muitas famílias. 

Conectados aconselhamento genitico e os serviços de teste visam tornar todo o processo muito menos desafiador, tornando-o mais rápido, mais fácil de acessar e mais preciso. Transformando, ao fazê-lo, como procuramos e encontramos aconselhamento genitico e serviços de teste. Ajuda e suporte agora estão disponíveis para todos que precisam. 

 

 

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