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How can a genetics referral help my family?

Photo: Some conditions are caused by changes in the genes or instructions carried within our cells

A genetic counselling service sees anyone who has questions about a condition that they think may have a genetic cause in themselves, their children or other family members. Some people might want to understand their own situation better whereas, for other people, knowing a specific cause may give some insight into other medical problems and might mean they can have follow up screenings or monitoring. Other people might want to know their chances of inheriting or passing on a particular condition.

Some conditions are caused by changes in the genes or instructions carried within our cells. These changes may or may not have been inherited from a previous generation. Clinical geneticists specialise in diagnosing these conditions, many of which are rare. A lot of this information is complex, but genetics clinicians can explain the details in straightforward language. They can explain how these conditions may be inherited and how likely they are to happen in your family. If it’s applicable to your family’s situation, they can also discuss medical management and what choices family members have.

The aim of genetic counselling is to help people make well-informed decisions for the future. Genetics clinicians concentrate on providing as much information as possible. They will discuss various options to help people make the best decisions for themselves and their families.

While the diagnosis and information related to genetic counselling is sometimes difficult or upsetting for families, the genetics clinicians aim to discuss this in a sensitive and supportive way. There is no pressure to discuss anything in more depth than each individual wishes. Genetic counselling is different from what is usually thought of as ‘counselling’ in that an important part is giving people factual information and relating this to their own family’s situation.

More information about the wide range of reasons why someone may be referred to a genetics clinic and what happens during an appointment can be found on the British Society for Genetic Medicine website.