The Importance of A Genetic Diagnosis


The Importance of Genetic Diagnosis for Inherited Rare Diseases (IRDs)

A genetic test can help identify if there is a faulty gene that is causing an IRD in you or your family and usually takes the form of a blood or tissue test. There are a number of reasons why a person can seek a genetic diagnosis.

  • Your eye doctor (ophthalmologist) thinks you may have an IRD and wants to confirm the diagnosis
  • There is a history of genetic vision loss in your family but the exact gene is not known
  • You have concerns that you or your partner has an IRD in your family that might be passed on to your children
  • Clinical trials are being developed that you may be eligible for


For many rare and inherited conditions, doctors may be able to diagnose a genetic condition through a clinical examination, or inform a patient about their risk by looking at a detailed family history. However, with IRDs it is critical that a genetic diagnosis is given to a patent or family as there are over 250 differing gene types and mutations that could be causing it. Also in order to access an appropriate trial or resulting treatment you must know yours and your family’s exact gene type.

In the case of IRDs we only know about 60% of the disease causing genes with 40% still not described. This does mean unfortunately that geneticists may be unable to give you a genetic diagnosis as your gene may be among that 40%. RI’s advice is not to give up hope. More and more genes are described and so it is possible that, given time, yours will too!

Taking a genetic test, waiting for the results, and then receiving them may cause a range of mixed emotions such as relief, fear, anxiety or guilt. It is important to think through the possible consequences for you and your family if you were to receive either good news or bad news. Even though a genetic test may confirm a diagnosis, there may be no intervention or treatment available right now but advancements in clinical trials leading to therepeutic development is becoming a reality.

Many members of RI in your country can talk about the options available to you locally and point you in the direction of a professional counsellor and doctor qualified to provide you with the details that will enable you to make an informed decision. Access to genetic tests are not the same in every country, unfortunately and RI is working with its members to advocate for equitable access and reimbursement for genetic tests as a matter of urgency,

There is are many websites providing excellent information on Genetic Testing. Here are some useful links:

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