Improving Genetic Diagnosis

A greater focus on improving genetic diagnosis benefits all rare disease patients. 

Genetic diagnosis a definition

Improving genetic diagnosis means ensuring rare disease patients receive a timely, and accurate diagnosis for a rare disease

On average, rare disease patients can spend between 6-7 years before they receive an accurate diagnosis. This delayed process can have a detrimental toll on a patient’s emotional and mental health. It invariably leads to the worsening of symptoms related to a condition, and it can be both an incredibly frustrating and traumatic experience.

Up to 40% of rare disease patients, it has been found, receive a wrong diagnosis at some point in their diagnostic journey. This means a high percentage of patients not receiving the right support, the right care, and the right treatment. 

As our understanding about rare disease, including causes and symptoms, increases, it must be accompanied by a subsequent increase in the accuracy of genetic diagnosis. Collectively rare diseases are not that rare, affecting around 6-10% of the global population. Our precise understanding of many of them, including many orphan diseases, is hampering the accuracy of genetic diagnosis, and this must change if we are to ensure all rare disease patients receive the support they need. 

improving genetic diagnosis

Improving genetic diagnosis: the challenges


Access to genetic counselors, and genetic testing options is not even amongst rare disease patients. Not all areas, due to their location, have many options for genetic counseling, and often patients face long journey times and long waits for appointments. This in turn contributes to a delayed diagnostic journey. 


Improving the entire process of genetic diagnosis rests on improving accuracy rates. This means reducing the rate of misdiagnosis. It means making more accessible, to parents and clinicians, tools for genetic analysis that rely on advanced technological capabilities to compare markers or symptoms of a rare disease, to a database of thousands of these features. 


Reducing diagnosis times is crucial to improving rates of diagnosis, the world over. 6-7 years for a diagnosis is an unacceptable amount of time, and solutions are needed to reduce the wait times patients experience when trying to access genetic counseling services too. 


Currently rare disease patients are spread across the globe. If there are ten patients around the world with the same set of symptoms, ensuring they receive an accurate diagnosis, rests on coordination and cooperation between genetic experts on a global scale. We live in a digital, ever connected world, bringing the power of this technology to the rare disease field is essential, in order to connect networks of patients, medical professionals, genetic experts, researchers, and support groups, in a move to improve diagnosis. 

Improving genetic diagnosis: the solutions

Improving access to genetic counselors and experts

In an increasingly connected world, the development of health solutions are allowing potential rare disease patients to connect with genetic counselors online. No genetic counselor in your area? No worries- online genetic counseling platforms are able to connect you, from the comfort of your own home, to a network of genetic experts. No more travelling, reduced wait times, and greater access to expert counseling and care. This is essential in improving genetic diagnosis for more patients. 

Direct to patient analysis and care

Online genetic counseling and genetic analysis platforms are allowing rare disease patients to directly access the tools they need, to take control of their own diagnostic journey. Whether it is an initial consultation with a genetic counselor, online, or uploading an image for facial image screening to identify markers of genetic syndromes, patients have direct access to advanced genetic tools for diagnosis, saving them time, and years of frustration and delayed care. 

Improving genetic diagnosis: what does it mean for rare disease patients?

  • A quicker and more accurate genetic diagnosis means early intervention, and support for the management of a rare disease. 
  • It means quicker and more timely access to possible treatments, and therapies. 
  • It means a short diagnostic journey, and less time wasted seeking a second, third, or fourth opinion. 
  • It means greater focus on managing and living with a rare disease, rather than time spent in diagnosing it.
  • Ultimately it means improved life outcomes, and a better quality of life for rare disease patients and their families. 

Improving genetic diagnosis when it comes to rare diseases and genetic syndromes, is a challenge. There is still much to do to increase awareness, and research, into the causes and symptoms of over 7,000 rare diseases currently identified. 

But advanced, connected genetic counseling via health and analysis solutions are contributing to this improvement, with the potential to improve outcomes significantly for rare disease patients all over the world. 


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