Spotlight on…..Genetic Counselling

In keeping with our previous story, this edition of the ‘Spotlight on’ series will delve deeper into Genetic Counselling, a function that can play a key role across many disease areas including retina, cancer, cardiac and neurology to name a few.

What is Genetic Counselling?

As many of you are aware, one of the challenges facing someone with an inherited retinal degeneration (IRD) is the lack of a precise genetic diagnosis. However, interpretation and delivery of a genetic diagnosis to an individual requires time with trained professionals such as a genetic counsellor. These are health care professionals with specialist expertise in medical genetics and counselling. They play a vital role in providing support and guidance to patients and their families around the inheritance pattern of disease and the likelihood of it recurring in other family members. They can also explain the next steps for a patient and their family in terms of continued clinical care or treatment options, if available.

Why is a genetic diagnosis so important?

Knowing the gene responsible for a condition can mean so much to the person affected and their family and friends. Firstly, a positive genetic result can allow their ophthalmologist to confirm a diagnosis and better advise patients on how their condition is likely to progress. But most importantly, a positive genetic result allows patients and their families to have a greater understanding of their condition. It can provide greater clarity on the pattern of inheritance and also empower people with the knowledge to make informed decisions regarding their healthcare and life choices.

This information is becoming increasingly important in the context of emerging clinical trials and interventions. Recent advances in gene specific and other promising therapies hold the potential to improve the lives of people in Ireland living with IRDs. This has made the need to deliver a genetic diagnosis all the more pressing as such therapies cannot be administrated without precise knowledge of the underlying mutation to be treated.

Read about the appointment of the Fighting Blindness genetic counsellor at: