Diagnostic Odyssey for Rare Disease

What is a diagnostic odyssey for rare disease

We explore the challenges facing rare disease patients in reaching an accurate diagnosis, and the solutions to these problems.

A diagnostic odyssey refers to a diagnostic journey that is delayed, paused or has reached an impasse. It means that a patient is struggling to reach or receive a confirmed and accurate diagnosis. This can have a devastating impact on the lives of those living with potential rare disease symptoms as it delays access to the right support and possible treatment options.  

Often this diagnostic odyssey also includes a wrong diagnosis, up to two or three times in some instances, before a patient reaches an accurate diagnosis. This creates a diagnostic journey that is long, frustrating and stressful.

misdiagnosis for rare disease

Diagnostic odyssey for rare disease: the challenges

Because of the rarity of many genetic syndromes, and their low prevalence, research into many of them is lacking. There is not always the interest, or the money, to research a genetic syndrome, of which only a handful of people in the world so far, have been diagnosed as having. This means there is often a lack of knowledge and understanding about how rare diseases are inherited, caused, and their symptoms, even amongst medical professionals. This is one of the main challenges behind preventing a diagnostic odyssey. 

In turn, this lack of knowledge and understanding, increases the risk of misdiagnosis for rare disease. 56% of Ehlers Danlos patients, for example, are misdiagnosed at some point in their diagnostic journey. Some rare disease patients receive up to 8 wrong diagnoses before reaching the right one. This is what then creates a long and difficult diagnostic odyssey. 

Complicating this process is a lack of access to the services, which can help individuals understand their options for genetic testing, what their specific symptoms might mean within the context of a rare disease, and how they can go about improving their chances of receiving an accurate diagnosis. A lack of access to genetic counseling services, whether due to geographical, time, or financial constraints, also lengthens and complicates diagnosis journey’s. 

A diagnostic odyssey means misdiagnosis, or delayed diagnosis. For a rare disease patient, beyond all of the stress and frustration that this entails in not having a concrete answer, it also means delayed treatment, intervention and crucial support. Without a confirmed diagnosis, it can be difficult for rare disease patients to access the help they need, both in terms of physically and mentally managing their condition. This can mean, in more serious cases, reduced life outcomes. 

Diagnostic odyssey for rare disease: the solutions

The solution to ending diagnostic odyssey for rare disease involves a number of different approaches, and many of these can be tackled by improving access to quality genetic counseling services.

Access to genetic counseling means pre-empting and preventing many of the obstacles in the way of an accurate rare disease diagnosis, which currently create a diagnostic odyssey. 

How does access to genetic counseling prevent a diagnostic odyssey?

Genetic counseling increases awareness about rare diseases, both amongst the individuals undergoing testing for genetic syndromes, and in the wider community as well. This awareness helps to spread information and knowledge about rare diseases, enabling both the medical and non-medical communities to understand more about the presentation of rare diseases. This awareness is crucial in raising the profile of rare diseases, and in preventing misdiagnosis. 

Genetic counseling provides information on the causes and symptoms of rare diseases. It also recommends genetic testing options, based on a patient’s family medical history, and/or their own specific symptoms. This creates more targeted testing, and ultimately more accurate testing too. 

How do we improve access to genetic counseling?

We improve access by moving it online. Virtual genetic counseling ends many of the obstacles to access that currently exist. Online genetic counseling is not bound by geographic and location constraints, and it allows patients to access genetic counselors from anywhere in the world. This also means reduced waiting times, and eliminates the need to travel long distances, or scheduling conflicts. 

Online genetic counseling, means genetic counseling from the comfort of a patient’s home. It is easy to use, easy to access, and it reaches more people at the same time.

Reducing the number of rare disease patients stranded in a diagnostic odyssey is an issue that needs to be fixed. Online genetic counseling might be just the solution to fix it. 





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