We explore and understand the challenges rare disease patients and their families face when looking to connect with a genetic expert.
What is a genetic counselor?
A genetic counselor is a professional, whose role it is to support rare disease individuals and their families, both before, through, and after the diagnosis of a rare disease. They are healthcare professionals and while their work is primarily with patients and their families (both immediate and extended), the role of a genetic counselor also involves working closely with communities to increase awareness and education about rare diseases.
Genetic counselors, along with the genetic counseling services that they provide, are a crucial part of the diagnosis of a rare disease process. They are able, from the very start of the process, to help patients and families make sense of their initial genetic analysis reports.
They can strengthen the accuracy of these genetic analysis reports by exploring with a patient the full range and extent of their features and symptoms, and how they might reflect the features of a specific rare disease. They will also take a full medical and family history, to understand if there is a pattern of inheritance which might also help to pinpoint a specific genetic syndrome in an individual. Armed with all of this information, genetic counselors will be able to understand which specific genetic tests might be necessary for their patients, to reach a confirmed and most importantly, an accurate, diagnosis.
Once a diagnosis has been reached, genetic counselors help rare disease patients manage their syndrome, including its symptoms and any possible treatment options. They can connect individuals and their families to the support networks available for specific genetic syndromes if they exist. They are also able to educate patients, their families, and their communities on what a specific rare disease means, in terms of symptoms and possible treatments, for the patient concerned.
Genetic counselors are committed to improving outcomes for rare disease patients. Whether this is through support, information, or recommendations for genetic testing options, they understand the importance of a confirmed, correct diagnosis for every patient.
Finding a genetic counselor near me – the main challenges
There are many challenges when it comes to finding a genetic counselor locally. The main obstacles include:
Location
Remote areas do not necessarily have a large pool of counselors for patients to choose from. Some areas are likely to have very limited, or even no genetic counseling services available. In the past, this has meant patients have had to travel long distances to find a genetic counselor, and have not been able to attend as many sessions as would be most beneficial for them.
Availability
In recent years, a growing awareness about rare diseases and the potential genetic testing available, have also led to an increase in demand for genetic counseling. This has led to an issue of reduced availability, and long waiting times.
Overcoming the challenges
Online counseling is fast emerging as the best solution to finding a genetic counselor, regardless of where a rare disease patient is located in the world. Online genetic counseling removes many of the challenges patients previously faced when trying to find a genetic counselor.
How does it do this?
It takes all the stress out of trying to find a genetic counselor close, by its ability to connect patients with a genetic counselor from anywhere in the world. This widens the network of genetic counselors available, and at the same time eliminates unnecessary wait times for an appointment. Patients no longer have to focus on finding a genetic counselor within easy traveling distance, they can connect with any professional based anywhere in the world, from any connected device.
Finding a genetic counselor has become much easier with the development of online genetic consultation. This improved access makes the entire genetic diagnosis of a rare disease process less stressful and ensures patients and their families receive better support and care, from the comfort of their own home.
