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A Few Key Terms

Additional terminology explained
Before we start this week, it is worth highlighting a few key terms and how we use them in this course

Genetic/Genomic testing

Genetic testing refers to any test that looks at a gene or genes. So, for example, someone might have genetic testing for cystic fibrosis (CF). This would involve looking at the gene that causes CF (called CFTR).

Increasingly people are talking about genomic testing or whole genome testing. This means a genetic test that looks at your whole genome. In other words, at all 20,000 genes as well as the genetic code that does not contain genes called ‘non coding DNA’.


Some genetic counsellors talk about clients not patients. This reflects the connection genetic counselling has to psychotherapy. It also suggests a more even relationship and the fact that not everyone having genetic counselling is ‘affected’ or ‘unwell’. We use ‘patient’ in this course to refer to someone having genetic counselling. We have nothing against ‘client’. However, we have used patient throughout for consistency. As we go through the course we would be keen to know which term you think is best.

Mutation/Pathogenic variant/Gene faults/Alteration

What do you call a gene change that causes disease? When talking to patients there is a balance between terms that are clear but not stigmatizing.

The correct scientific name is pathogenic variant. It used to be mutation. Often genetic counsellors don’t like ‘mutation’ and find ‘pathogenic variant’ is too scientific. In this course we use genetic alteration to refer to a pathogenic variant that causes disease. Again, let us know as we go through the course what terms you think are best.

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What is Genetic Counselling?

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