Rare Diseases & the Role of a Clinical Geneticist

What is a rare disease? Officially speaking, a rare disease (RD) is one that affects fewer than five people out of every 10,000. When a rare disease is diagnosed, it can have a major impact on the individual and their extended family, and the majority of rare neurological diseases have an underlying genetic cause.

Clinical Geneticists meet a vital need in medicine, providing personalised support and important answers to people concerned about the risk of developing an undiagnosed or rare disorder. Helping the patient, as well as their extended family, these experts provide crucial insight. 

What Does a Clinical Geneticist Do?

Clinical Geneticists are doctors with specialist expertise in the diagnosis and treatment of genetic disorders and conditions. Assisting people at risk of or affected by rare diseases with a genetic cause, they allow patients to make informed decisions about their health and that of their families. 

When a rare disease is diagnosed or suspected, Clinical Geneticists meet with patients to provide counselling about the implications and nature of their disease. This extends to the risks of inheriting the disease for the wider family and others at risk.

How Do Clinical Geneticists Help With Rare Diseases?

When a rare disease occurs, it can take many years for a diagnosis to be reached. By the point a patient approaches a Clinical Geneticist, there's a very good chance that person has been living with the symptoms for a long time. With a lack of knowledge and a delay in diagnosis, anxiety and uncertainty can ensue.  Sometimes other affected individuals are born with the same condition, while the first case remains undiagnosed.

Rather than seeing it as bad news, many patients and families express feelings of relief once their diagnosis has been made. However, they then often have many questions about what it might mean for close relatives and what to expect in the future. 

Expert Clinical Geneticists offer accurate, personalised insight into the disease, as well as experience in optimising medical management. The support they provide is essential to the process, as informed patients are generally happier and more relaxed when they're aware of what's to come. 

Here to Provide You With Life’s Important Answers

At Genetics.ie, we offer a wide range of genetic testing services from our Blackrock clinic under the supervision of our founder - the highly experienced geneticist Dr Willie Reardon. Providing important answers relating to infertility, birth defects, chromosome disorders, cardiac genetics and rare diseases. 
If you'd like to know more about us and what we do, visit us today at www.genetics.ie Alternatively, if you’d like to speak to us about your requirements, call 087 4037149, and our team will be glad to assist.