Diagnosis of a Genetic Disease


Diagnosis of a rare disease can take two main forms. 

A diagnosis can confirm that an individual is a carrier for a specific genetic mutation or chromosomal change, and at risk of developing a genetic syndrome themselves, or at risk of passing the mutation on to their future children. 

Or it can confirm that an individual has a rare disease or genetic syndrome, due to a gene or chromosome change, that may or may not be inherited from one or both parents. 

Diagnosis of a rare disease is a process fraught with complications, and often a lack of information. Rare diseases, of which there are currently around 7,000 identified, are also often referred to as orphan diseases, as so little is known about their precise causes and unique set of symptoms. 

Continued research into the causes and symptoms of rare disease, is increasing awareness and genetic analysis options, but it also means what experts know about each disease is changing rapidly, and keeping up with these advancements are crucial in ensuring an accurate diagnosis for all patients. 

Misdiagnosis is still much too common in the field of diagnosing rare disease, as is a delayed diagnosis.  

Diagnosis of a genetic disease: the process

The diagnosis of a rare disease should involve the following steps. However access to each of these important steps can have a very real impact on how accurate a diagnosis is. Full access improves accuracy, and the long term outcomes for a rare disease patient. 

The steps of the genetic diagnosis process are:

Genetic Counseling: a mixture of medical advice, and emotional support, which accompanies rare disease patients and their families throughout the entire diagnostic process. This includes understanding more about a patient’s family medical history, as well as their own symptoms, it involves recommendations for genetic testing and comprehensive information about the options for testing. It makes sense of medical knowledge and information for patients and families, and helps them understand their diagnosis once they receive one. Genetic counseling is an important support service which empowers rare disease patients, allowing them some degree of control over their own diagnosis and condition. 

Genetic analysis and testing: genetic testing can take many forms but generally involves sequencing, or understanding, an individual’s DNA and genetic makeup, in order to identify gene mutations, or chromosomal abnormalities, that might identify the presence of a rare disease, or identify someone as a carrier of such a syndrome. Genetic testing, for the most part, involves taking a blood sample for analysis. But it can also involve other new genetic analysis methods, including facial screening. 

A confirmed diagnosis: generally this will be the result of a combination of genetic counseling and genetic testing, and both stages of the process ensure a more accurate final diagnosis. This diagnosis is important in ensuring rare disease patients understand more about their own future health, but also it is important for ensuring they can access the support and care they need to manage their condition long term. 

Improving diagnosis of a genetic disease

Reaching a more accurate diagnosis, faster, is imperative to improving the diagnostic process for all rare disease patients. This involves improving and increasing access to genetic counseling and testing services. 

One approach involves the use of online genetic counseling in order to provide a more accessible approach to this important service. Online genetic counseling provides access to counseling to anyone with a connected device with video capabilities. It simplifies access to this support service, but the impact in terms of accessibility, looks set to be nothing short of revolutionary for many patients. 

Diagnosis of a genetic disease: the implications

A genetic diagnosis for rare disease can have profound implications for a patient and their family. These are, for the most part, positive- as they allow patients to access the right support and care. An accurate diagnosis provides much needed answers for many families.

However this clarity does not necessarily make receiving a diagnosis an easy process. The diagnosis of a rare disease in an infant, child or adult, may have profound implications for a family. Support, and networks of support are crucial following a diagnosis. 

Depending on the type and severity of symptoms, a rare disease patient may have complex and multiple medical conditions and healthcare needs. This can be a challenging implication of a rare disease diagnosis. These health conditions may require long term care, and long term support for the family involved. It may involve lifestyle changes as well.

A diagnosis may also have implications for an individual’s family planning. A carrier of a genetic mutation, depending on how the mutation is inherited, may need to consider different options for ensuring future healthy children. This is something that should be explored through genetic counseling. 

Improving diagnosis of rare disease is currently a priority, in terms of enhancing accuracy and accessibility for all patients. Increasing awareness is as important, due to its positive impact on reaching a more accurate diagnosis.


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