Information & Support

What is genetic counselling?

Genetic counselling involves the assessment of an individual’s personal and family history of potentially genetic disease. A genetic counsellor explores the potential risks of genetic disease within the family, ways to lower these risks and discusses whether genetic testing may be beneficial.

What are genes?

Genes are the body’s instructions and determine how the body develops and is maintained. Genes come in pairs and each gene has a code, which is like a long sentence with thousands of letters. Changes in this code are called variants, and some pathogenic variants stop the gene working properly and can increase the risk of certain types of disease.

What are genes?

How are pathogenic variants inherited?

There are several ways that pathogenic variants can be inherited: the most common ways are called autosomal recessive, autosomal dominant and X linked Inheritance.

Some conditions, and particularly cancer, can be inherited in a dominant pattern. This means that if someone has a pathogenic variant there is a 50% (1 in 2) chance that they will pass this onto their children. The risk of cancer can be inherited from either side of the family.

The diagram below illustrates this:

Many other conditions can be inherited in an autosomal recessive pattern and although less common some cancer can be inherited this way too. This means that someone must inherit a pathogenic variant from their mother AND father to be affected.

The diagram below illustrates this:

Sometimes conditions can be inherited in x linked pattern which means that the faulty gene is on the X chromosome and therefore affects boys and girls differently: typically boys are more severely affected than girls.

The diagram below illustrates this:

What are the possible results?

Depending on the test performed there are up to four possible results that could result from genetic testing:

A pathogenic variant is found that increases your risk of disease
You are shown to be a carrier of disease which increases your risk of having a child with a disease
A variant of uncertain significance is found
The test is negative (normal)

What are the possible results?

Depending on the test performed there are up to four possible results that could result from genetic testing:

A pathogenic variant is found that increases your risk of disease
You are shown to be a carrier of disease which increases your risk of having a child with a disease
A variant of uncertain significance is found
The test is negative (normal)