Expert Opinion – Genetic Counsellor

We asked a genetic counsellor, working in the public health system in New South Wales, to tell us about genetic counselling: how it works, who should receive the counselling and why it is important to people diagnosed with Lynch syndrome and their families.

What is genetic counselling?

Genetic counselling is the way that you and your family members are given the right information and support about health concerns that run in your family. Genetic counselling can help diagnose a genetic condition and give you the right help and advice.

Counselling is provided by a team of health professionals but usually, your genetic counsellor is the first person you deal with and sees you the whole way through what can sometimes be a lengthy and often emotional process of looking into your health history and that of your family.

Your counsellor should also provide support once you have received your diagnosis and review your information and answer new questions as they arise.

Why is in necessary to receive counselling? Why can't I just get tested?

Although some private companies now offer lots of different kinds of genetic tests, no-one should undertake a genetic test of any sort until the implications of such a test have been fully explained to, discussed with and considered by that person and, where appropriate, their close family members.

Genetic testing can have emotional, spiritual, financial and long-term health consequences. Genetic testing without counselling is not advised.

Under what circumstances might I be referred to a genetic counsellor and why?

You will need to be referred to a genetic counselling clinic by a medical professional.

Sometimes, this is your GP who is concerned about your family health history. Sometimes, this is a physician, oncologist or a surgeon who has treated you and sometimes it is another practitioner concerned about your health or the history of cancer in your family.

If you feel that your concerns about patterns of cancer in your family are being ignored, then piece together as much of your family cancer history as you can, find out about the criteria for deciding who is at risk and take the information and discuss it with your doctor. You may also be able to contact your local genetic counselling service directly and ask for guidance.

There are two groups of people usually referred to the genetics services across Australia.

If you are in the first group, you are offered genetic counselling as there seem to be more cancers than you would expect in your family or you have recently had cancer, your tumour was tested and showed that you might have a mistake or fault in one of your repair genes. In this situation, the genetic counsellor works with you to document your full family history of cancer (this may include asking other relatives to give permission for us to access their medical records). The genetic counsellor then appraises the family history for any signs of an inherited tendency. Your family background may also be considered, such as Ashkenazi Jewish heritage.

At this stage, an appointment with a genetics doctor may be needed. If genetic testing (via a blood test) is advised, this will be fully explained to you. The results may take between 3 and 10 weeks, depending on which genes need to be looked at. When the results are available, your counsellor will invite you in for another appointment.

At this appointment, your results will be discussed fully with you and an action plan will be drawn up. Should your results indicate an inherited gene fault (in the case of Lynch syndrome, one of the four identified gene mutations) then your genetic counsellor will help you understand your next steps and make a plan. For example, this might involve highlighting those family members at risk and working out the best way to tell them about the inherited gene fault in the family.

If you are in the second group, you will be a family member who has been notified that there is a genetic fault in the family. You will be invited to meet with the counsellor to find out about the genetic fault. Your counsellor will then help you make a plan that may well include genetic testing. The counsellor will meet you again with the results and help you plan your next steps.

If I decide not to get genetic testing, what's the point of seeing a counsellor?

If your pattern of family cancer, a diagnosis of Lynch syndrome in a blood relative and/or your family background indicate that you are at risk of Lynch syndrome, you will be considered ‘clinically’ diagnosed with Lynch syndrome and you should see your counsellor to set up the same program of surveillance and screening as you would need if you had received a positive genetic diagnosis of Lynch syndrome.

If, on the other hand, you are tested and test is negative for Lynch syndrome, you will only need to follow the same precautions as other members of public because your risk is no higher than the majority of people. Also, your children will not need to be tested. Lynch syndrome does not skip a generation so if you are tested and find out that you do not have the gene fault, your children cannot inherit it.

Once I have been tested and have had my result, is there any reason to visit my counsellor again?

If you test positive for a gene fault or indeed are told that you have a “Variant of Unknown Significance’ you should stay in touch with your genetic counselling clinic. That way, you can keep up to date with the latest recommendations for surveillance and management and to help you get access to these services, where this is needed. New gene faults are being discovered regularly, so if your fault is described as a Variant of Unknown Significance it is important to stay in touch with your clinic and find out about latest discoveries maybe with a view to re-testing in the future.

How much does this cost?

Currently, genetic testing for most conditions (including Lynch syndrome) is not rebateable through Medicare or private health insurance. The good news is that if your family history indicates that Lynch syndrome is a possibility, and if ordered through a genetic counselling service, the cost of genetic testing will be covered by your local health district.

There is also no cost to your appointment if you see the genetics health professionals through the public health system. In some parts of Australia, some geneticists have set up private practices where clients may elect to pay for services themselves so that they can have appointments and genetic testing much more quickly than may occur through their local public service.

I have heard the term 'previvor'. What does this mean?

A previvor is term sometimes used to describe someone who is at risk of cancer as a result of an inherited predisposition such as Lynch syndrome but who has not had a cancer or pre-cancer. By having genetic testing and appropriate risk management, your genetic counsellor’s aim is to reduce markedly your risk of developing cancer in the future by helping you plan your surveillance and manage your susceptibility to various cancers.

Where can I find out more about genetic counselling and testing?

1. If you would like to know more about the process of genetic testing, the Centre for Genetic

Education has a list of publications about genetic counselling:

http://www.genetics.edu.au/Genetic-conditions-support-groups/What-is-Genetic-Counselling

2. A full list of Australasian genetic counselling services is available through the following link:

http://www.genetics.edu.au/Genetics-Services/genetic-counselling-services

3. If you want to understand more about genetic tests and Lynch syndrome, please follow this link:

http://www.genetics.edu.au/Publications-and-Resources/PublicationsBrochuresandPamphlets/Understanding%20Genetic%20Tests%20for%20Lynch%20Syndrome/view