Genetic Counselling and HD

Genetic counselling is a key step in predictive testing for Huntington’s Disease (HD), but there can be some confusion about what it’s actually all about. Thursday 10th November is Genetic Counselling Awareness Day, and we partnered with Genetic Counsellors from Genetic Health Service New Zealand to bring you insight into what genetic counselling is, and what it isn’t.

Genetic Health Service NZ is a nationwide service based across Northern (Auckland), Central (Wellington), and South Island (Christchurch) hubs, with regional clinics across the country to reduce barriers to access. Those with family members known to their service are able to self-refer; otherwise, a referral can be made through one’s General Practitioner.

Whereas diagnostic testing is the domain of Neurologists, genetic counselling is a pre-requisite for predictive testing to find out if “at-risk” individuals have the genetic mutation for HD. People seeking predictive testing are typically aged 18+, asymptomatic, and present following a new diagnosis in the family, or having known about their family history for years.

The reasons for seeking a test are numerous, and include:

· An inherent feeling of wanting to know their HD risk status

- “I just feel like I need to know… now feels like the right time”

- “The uncertainty feels worse than either a positive or negative result”

· To assist with reproductive decision-making

- Whether to start a family or not

- Whether to consider reproductive technologies (such as pre-implantation genetic testing, or prenatal testing)

· Practical decision-making

- “Knowing my result will help me prepare for the future financially and practically”

- “If I test positive, I’ll take the chance to tick things off my bucket list”

· Providing information for “at-risk” children

· Knowing their genetic status to partake in research and clinical trials

There is some confusion about the role of genetic counselling for getting a test, and misconceptions can put some people off and act as barriers to access. Before delving deeper into what genetic counselling is, it’s therefore worth clarifying what it isn’t:

· Going for “just” a blood test

- The process is so much more than that, and involves an in-depth discussion to explore one’s options

· Going for therapy

- “I don’t need/want counselling”

- Genetic counsellors do not provide psychotherapy; whilst the conversation may lean into personal topics, it’s possible to have a purely practical discussion

· Genetic Counsellors aren’t there to put people off having a genetic test, but rather to guide them in making a decision about testing and the right timing for them

Now that we’ve debunked some common misconceptions, we can explore what Genetic Counselling really is. Genetic Counselling is defined as a communication process, which aims to help individuals, couples and families understand and adapt to medical, psychological, familial and reproductive implications of the genetic contribution to health conditions (Resta et al, 2006) – in this case, HD. People generally have at least 2 pre-test appointments before being offered a blood test for predictive testing, and 1 post-test appointment to receive results, with further sessions or referral back to the Regional HD Service for ongoing follow-up as required.

Genetic Counselling is a pre-requisite for obtaining predictive testing to find out one’s genetic status, and as such, is often a key part of one’s journey with HD. We hope this has given you a better understanding of what role it plays in the process, and helped you feel more confident in accessing it should it be the right next step for you.

Acknowledgements

This post was based on a presentation delivered by Genetic Counsellor Harry Fraser at the New Zealand National Huntington’s Disease Association Conference 2022, with his consent.

NB for confidentiality reasons, any quotes included aren’t from real patients, but rather exemplify common reasons for testing.