Genetic Counselling, Further Considerations

Following what Patel has told you there would be a lot to explore in her clinical consultation

First, as a genetic counsellor you might want to pick up on her feelings about not having children if she has the gene alteration. You might wish to clarify a couple of things here. Is Patel worried as she doesn’t feel she could cope with having HD and also raising children? Or is it that she doesn’t want to pass on HD to her children? It might be worth talking to Patel about some of the different reproductive options, such as prenatal testing or PGD and how she feels about these. As a genetic counsellor you may wish to be mindful about what issues might be raised by coming for testing. Examples could include childhood traumas, difficult relationships, bereavement etc.

However, a more pressing issue might be the potential impact of a positive test on Patel. Remember, ‘positive’ in terms of genetic testing means having the gene alteration that causes disease. Patel is talking about ending a long-term relationship. She also has told you that a positive result would mean she would choose not to have children. As a genetic counsellor you might want to explore if Patel wanted to come with her partner to discuss the testing. Additionally it would be important to talk about her feelings and whether she might need any extra support if she got a bad news result.

Genetic counselling can be seen as a short-term form of psychotherapy. However, there are many times when genetic counsellors are limited by our professional boundaries and also our time. It might be worth, in some circumstances, involving other healthcare professionals such as clinical psychologists and psychiatrists to support patients who are severely struggling with the emotional impact of genetic testing.

What do you think would be the important things to discuss with Patel at this point in her journey?