How to communicate genetic information

Glen Brice, the Senior Genetic Counsellor, tells us about his experience of communicating genetic information to patients.

Increasingly, genetic tests are being undertaken outside of the speciality of clinical genetics, in mainstream medical specialities.

Evidence suggests that both medical professionals, patients and the public view genetic tests differently from other healthcare tests.

The two major types of genetic tests

Let us first consider the two major types of genetic tests:

• A diagnostic genetic test is undertaken in an individual with signs or symptoms of a condition for diagnosis and to inform patient management.
• A presymptomatic genetic test is undertaken in a well individual to give information about how likely it is that a person will develop a condition. It does not give accurate information about when a person will develop the condition.

A person undergoing presymptomatic testing will, therefore, require different genetic counselling and consent to a person undergoing diagnostic testing.

Before genetic testing

Before offering genetic testing, the following factors should be discussed with the patient:

• For diagnostic testing; how will the result change the clinical management of the patient? What is the likelihood of the patient developing other clinical features of the genetic condition?
• For presymptomatic testing; what is the likelihood of the patient developing the clinical features of the condition? What screening measures are offered? How will any clinical features of the condition be managed? What will be the psychological impact of finding a mutation?
• For both; what are the implications for other family members, including any difficulties in disseminating genetic information in the family?

It is also important to discuss whether there is a chance of identifying incidental findings – not relevant to the diagnostic question, but with a potential impact on health, and the chance of identifying genetic information that is difficult to interpret.

Talking point

A learner on the previous course commented that we used to undertake extensive pre-test counselling for HIV, and there was controversy about the amount of anxiety this caused to people when most tests returned negative.

HIV testing is now routinely undertaken without any pre-test counselling.

Do you think the same principles might apply to genetic tests, or are these different?

If you’d like to learn more about communicating genetic information, check out the full online course from St George’s University of London online course, below.