Rare disease specialists near me: the challenges
There are many potential challenges when it comes to finding a rare disease specialist in a specific area or location. However new developments in virtual and online genetic counseling look set to address and remove most of these barriers head-on.
What is a rare disease specialist?
A rare disease specialist may refer to one of any number of genetic experts, including a genetic counselor and geneticist. This term may also refer to rare disease researchers and those involved in treatment development for genetic disorders.
For most people, the rare disease specialist they need access to in terms of navigating the genetic diagnosis and testing process will be a genetic counselor.
What is a genetic counselor?
A genetic counselor is a rare disease specialist who has many roles when it comes to helping individuals and families navigate the genetic testing and diagnosis process.
These roles include:
- Educating about rare diseases – including their causes and symptoms
- Raising awareness about rare diseases – including their causes and symptoms
- Placing an individual’s symptoms within the context of a rare disease diagnosis
- Understanding more about an individual’s family medical history and how this may increase their risk of developing a rare disease
- Recommending specific genetic tests
- Making sense of genetic screening, analysis, and testing results in the context of a rare disease
- Translating medical jargon for patients and their families
- Providing emotional support for rare disease patients and their families
- Helping families understand the inheritance of rare diseases, and what a diagnosis may mean for current and future family members
- Coordinating between the different medical teams and professionals responsible for the care of rare disease patients
The role of a genetic counselor is a large one, and it requires an extensive and detailed understanding of genetics, rare diseases, and genetic testing.
The challenges
Access to rare disease specialists, including genetic counselors, can be limited according to where someone lives. Even in areas with a network of genetic counselors, access can be limited by a demand for services and a lack of availability of appointments, leading to a long wait for genetic services.
Limited access to genetic specialists, especially genetic counselors, can negatively impact the accuracy of the genetic diagnosis process, and lead to higher rates of misdiagnosis. It can also lead to extended diagnostic journeys, delaying a diagnosis, and access to crucial care.
The solution
There is one way in which we can remove almost all of the challenges currently hindering access to genetic counselors and other rare disease specialists. This way involves moving genetic counseling online, in a development that removes challenges around location, almost immediately.
Online genetic counseling can be accessed from any connected device, with video. This means it can be accessed from anywhere, even somewhere with no rare disease specialists. It removes the potential need to travel long distances to access what are very important services for rare disease patients, and it makes genetic counseling that much more accessible to so many more people.
It also can connect anyone, including rare disease patients, who need to access rare disease specialists and their services to a global network of rare disease and genetic experts. This removes waiting times and also opens up a world of specialists to the people who need their services the most.
Creating greater access to rare disease specialists is important to improve the accuracy of genetic diagnosis, awareness about rare diseases, including the causes of rare diseases, and better support and care for rare disease patients.
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