In 1993 a gene test (predictive test) became available to allow a person at risk to find out if they carry the faulty Huntington’s disease gene and therefore at some point in their life develop symptoms. Making a decision to undergo predictive testing is often the most challenging decision a person at risk will need to make.
According to international guidelines, if you are 18 years of age or older and have a blood relative who has been diagnosed with Huntington’s disease, you are eligible for the predictive test. If you are under 18 years of age and have questions about testing please see advice from your local Huntington’s disease Association. However in most cases, genetic testing is not legally permitted for minors even with parental consent.
To access a genetic test, make an appointment with your General Practitioner and request a referral to a genetics clinic. The referral should cover the reason for referral and overview of family history. Predictive testing is FREE of charge for those with a Medicare card and GP referral.
What is predictive testing?
Pre-symptomatic testing refers to genetic testing performed on a person who has a family history, but no symptoms of the condition. The test for Huntington’s disease cannot determine when symptoms will begin or how severe symptoms are likely to be.
Testing is performed by extracting your DNA from a blood sample to identify whether you are carrying the faulty Huntingtin gene. The testing usually consists of genetic and psychosocial counselling, a neurological examination and a blood test. The time between the initial blood test and receiving your results is generally 6 to 8 weeks and testing is not usually done at the first genetic counselling appointment.
It's a personal choice!
There is no right or wrong decision whether to undergo pre-symptomatic testing for Huntington’s disease, it is a personal choice and should be carefully considered.
- Genetic counselling is a supportive discussion based process to help you consider all relevant factors before making an informed decision. If you are wanting to explore IVF/PGD family planning options, you can also raise this with the genetic counsellor in your first appointment.
Other counselling support may be helpful to explore the outcomes and make sure you’re emotionally ready to make the decision.
What to expect?
The testing process usually includes the following steps but can vary in the number of appointments:
- An initial appointment with a genetic counsellor during which you may discuss the history of HD in your family, the genetics of HD, the reason that you’re seeking testing, and potential impacts of any test result
- A second appointment, which may include a neurological examination and a blood test if you decide to go ahead
- Another appointment once your test results are ready
- Follow up counselling support may also be required and is recommended by HD regardless of your test results
Receiving a diagnosis of Huntington’s disease is far more complicated than a visit to your GP. In order to receive a diagnosis, you will need to obtain a referral from your GP to see a Huntington’s disease specialist. The initial consultation may include:
- Discussion of family history
- Your current knowledge of Huntington’s disease
- Discussion of symptoms you believe to be exhibiting
- Neurological examination
- Assessment of mental and emotional state.
After the above assessments, the specialist will inform you of whether or not they believe you are showing symptoms of Huntington’s disease. The specialist will require a blood test to confirm your diagnosis. They may also request that you have a MRI scan to see any physical changes in the brain.
Please note: It is ideal if you attend these appointments with a support person (i.e. spouse, sibling or friend etc). If you wish to have our support through this process, a Huntington’s Victoria representative can attend these appointments with you.