Genetic Counselling for HD

What a genetic counsellor may wish to discuss with Patel

In this first appointment with Patel some issues a genetic counsellor might wish to discuss with Patel are:

• Managing expectations: This is an important part of many genetic counselling sessions. In this case Patel has come to clinic clearly wanting to have genetic testing today. It can be important to ask patients what they are expecting/hoping to get from a genetic counselling session. If what they want from as session is not possible, then this is important to address.

• Previous experience: What were her experiences of HD? How has it been living with HD in the family? How was Patel’s father affected? How did this impact on the family? Often this provides insight into why someone might want testing and perhaps what result they are expecting.

• How would she feel if she is positive (she has the HD alteration) or negative (she has inherited an unaffected copy of the gene)? This is not always as simple a question as it may seem. At first you might think someone would be relieved if they were ‘negative’ and distressed if they are ‘positive’ – and this is often the case. However, in families where there are many family members with HD sometimes a negative result means that that person who is unaffected will be expected to take on a caring role for other affected family members. There may also be issues of ‘survivor guilt’ with negative results, especially if a close family member has a positive result. As such it is important to have a good understanding of a patient’s story about HD and what a result will mean for them in the context of their own life.

• Timing: Why now? A useful question to ask might be regarding the timing of the test. Is there a reason that Patel has chosen now to have genetic testing?

• Accuracy of the test: Is Patel really at risk of inheriting HD? Her father’s diagnosis needs to be confirmed to check he had genetic testing for HD, not just a clinical diagnosis. Without a genetic test it is possible that he may have had a different neurological condition. This situation should be discussed.