Genetic Diagnosis for Rare Disease

Reaching a confirmed genetic diagnosis is a long process. We explore why that is, and how the process can be shortened.

Understanding genetic diagnosis

A confirmed genetic diagnosis for a rare disease is not easy to come by. Many potential rare disease patients face years stranded in a sea of misdiagnosis and uncertainty. This can have a devastating impact on their mental and physical health. However, new genetic diagnosis tools bring new hope to rare disease patients, as they provide direct access to genetic analysis, consultation, and diagnosis to patients. These tools also improve the accuracy rate and reduce misdiagnosis for rare diseases, an issue that has traditionally hindered many patients in their diagnostic journey.

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Genetic diagnosis of a rare disease

Several main issues are key to understanding why a genetic diagnosis can be so difficult to come by and why it can take so long to reach an accurate one.
The whole field of rare diseases and genetic syndromes is one of continued and ongoing research. Many syndromes are rare, and it is hard to generate interest and funding into research into its causes and symptoms. Many rare diseases are orphan syndromes, meaning they are not the subject of research or investigation. This makes diagnosing them very difficult. The less we know about a rare disease, the harder it can be diagnosed. This also means that misdiagnosis is common, even when dealing with rare diseases that are not orphan diseases, simply because the field of genetics is continually changing. Not all family doctors and pediatricians are up to date with the changes.

There are many obstacles in the way of securing an accurate, timely genetic diagnosis. Traditionally in-person appointments have been the norm for genetic analysis and genetic counseling services. This has posed issues with families who live in areas without these key services and has led to many families having to travel, as and their schedules allow, long distances to access these crucial services. Long wait lists for these services have also made them inaccessible to many. In some cases, the cost is also a prohibitive issue when it comes to accessing these services.

Improving genetic diagnosis

New developments in diagnostic technology and tools have been developed to combat these traditional barriers to reaching a genetic diagnosis. Online genetic analysis and genetic counseling services are improving accessibility, and in the process, improving the rates of genetic diagnosis. This has the potential to mean drastically improved outcomes for all rare disease patients.

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