Rare disease symptoms – Genetic testing and the role of a genetic counselor

Rare diseases effect more than 300 million people worldwide. Children typically wait six to eight years before being diagnosed

Genetic conditions, where often the precise cause or the mutation causing the condition is unknown!! Such is the scenario of a rare disease diagnosis. In such complex jigsaw puzzle where you do not have set designed rules and defined explanation, it is understanding the symptoms of each individual person affected that helps make the genetic diagnosis accurate.

There are around 7,000 identified or perhaps even more of unidentified rare diseases; each with its own unique set of symptoms or features. These features can range from developmental delay, to facial features and to medical and health conditions. Symptom have often been observed to affect multiple parts of the body or body systems. Also, whats really complicating the already complicated situation is that the symptoms can range from a scale of mild to severe and often siblings or related affected individuals might display slightly different symptoms or levels of moderation in the symptoms.

For most of you may know by now, most of the rare diseases are not treatable at least in general, however if the symptoms are identified and their level of severity is known it can be controlled or treated. In other words, early diagnosis may help in controlling the elevation of symptoms and its impact on an individuals health and development.

Most commonly identified symptoms:

  1. Facial features (common example: Down Syndrome: Flattened face, specifically across the nose bridge, almond shaped eyes, short neck and other unique features)
  2. Some may be congenital symptoms and some may develop with age.
  3. While, some may be identified at infancy or early childhood.

Genetic screening and diagnosis by a Genetic counselor:

Genetic counselors use a combination of skills such as identifying a set of symptoms along with considering and analysing the family medical history in form of a pedigree chart to further understand the kind of genetic condition of these unique features.

This above step is highly important and basis of an accurate diagnosis, reason being that genetic testing is highly target specific and only doing the above step right will help a genetic counselor decide which genetic test is appropriate in which case. Genetic counselors here play a crucial role in doing an in-depth study and analysis of physical examination of symptoms displayed and family medical history collection by using a variety of skills in their counseling session with the patient and their families which you can imagine is all generally done in a timeframe of 40 mins to 1 hour sessions.

A dependence on a subjective assessment can lead to errors in diagnosis. This is shown with Ehlers-Danlos again, where up to 56% of patients with the syndrome receive a misdiagnosis at some point during their diagnostic journey. 

Rare disease diagnosis and future:

In recent years there has been an increased awareness of the importance of improving the accuracy and rate of diagnosis for rare disease, even for those with an as yet unknown precise genetic cause. There are upcoming AI supported technologies which help in performing the facial feature analysis and comparison of identified features with existing data of rare disease symptoms to accurately diagnose the genetic syndrome. This then also helps in generating a report of analysis which further is studied by a genetic counselor for better understanding.

Genetic counseling is now a widely recognised profession around the globe and is still picking up but at a rocket pace and one can only understand why there is more and more demand for genetic counselors and the extensive trained medical knowledge plus the communication skills they bring along to this field of genetic testing and genetic diagnosis.

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