Why genetic counselling is sometimes necessary, not just nice

It seems every day there is a new headline appearing about the latest genetic test. Testing our DNA can apparently now tell us everything from our risk of getting certain cancers to our ancestral background and whether we like coffee or tea.

Although the claims made by some direct to consumer tests have been called into question at times, genetic testing for medical reasons is an invaluable tool that helps health professionals make diagnoses, assess certain health risks and guide treatment of some conditions.

Pathology services test around 12 million Australians every year and for patients these interactions can seem routine and straightforward – blood is drawn and then the doctor gives the all clear, writes a prescription or provides some advice about lifestyle changes or when to have the next check-up.

Some genetic tests are also routine and straightforward, either confirming a known diagnosis or providing a clue as to the best treatment. But for other genetic tests, the experience is anything but routine. This is especially true if the test result carries significant implications for your future or the health of your relatives.

What is genetic counselling?

When faced with complex information that has implications both for the future and for other people, it is helpful to have an expert guide. A genetic counsellor is an accredited health professional who understands both the science and personal significance of genetics. In the same way that a doctor or lawyer uses her expertise to help you make your own decisions, a genetic counsellor uses his expertise in genetics and communication to help individuals and families understand, use, and share genetic information.

For example, consider the situation in which a couple has genetic carrier screening prior to pregnancy to determine if they are likely to have a child with a genetic disorder. Such testing may show that both parents have genes that can cause genetic disorders such as fragile X syndrome, spinal muscular atrophy and cystic fibrosis in their child. The expert guidance of a genetic counsellor can help the couple to understand the test result and use the information in a way that is best for them.

Another example would be testing of the BRCA genes in a woman with familial breast cancer.

The result of her test could have major implications for her relatives (both male and female) regarding their health and cancer risks to their children. The concerns for the woman with cancer and for her well-but-worried relatives could be very different.

A genetic test for familial disorders such as these can be thought of as looking backwards, potentially explaining a disease that has already happened in the family. The same test can be seen as looking forwards, providing information about the possibility of future disease in the person tested. And, in a sense, the test can be thought of as looking sideways, potentially providing information that will be relevant to other family members. These perspectives can get complex!

Sharing this information wisely within the family is not necessarily easy. That’s where a genetic counsellor can help, providing information, guidance, and expertise about what the test result means and how it can be used, now and in the future, by different members of the family.

Why should I talk to a genetic counsellor? Can’t I just ask my doctor?

A genetic test for a familial disorder can raise a host of questions about the science of the test, medical consequences of a result, and social, psychological, financial, and legal issues associated with the test result. Some doctors know about such matters for the tests they order, and your doctor is always the best and first place to ask your questions. However, the doctor may not have the expertise or the time (or both) to answer your questions to your satisfaction. Alternatively, the doctor may be able to answer your questions before the test is done, but you require more detailed and specific answers once the test has been reported to you. These would be situations in which referral to a genetic counsellor could be very helpful.

Genetic counsellors are available in public hospitals across Australia, and in private practices in most states and territories.

Some provide both face-to-face appointments and telephone or telemedicine appointments. They may recommend that you have a referral from your doctor or they may accept a self-referral without a letter from your doctor.

Health matters and family history may be taboo for some people but genetic counsellors have the skills to ask difficult questions and overcome these barriers. They are also required to tease out preconceptions and make sure people are armed with the facts in order to understand their options and what results may (or may not) tell them.

If tests results have implications for the extended family, relationships can create extra difficulties such as speaking to estranged family members. A genetic counsellor can help guide the timing and content of that communication with relatives.

The right NOT to know

One of the issues with a genetic test is that your DNA does not change and once you know something about your genes, you can’t ‘un-know’ it. This can be an important consideration for people in deciding whether they want to get tested, if they would prefer not to know or if they would prefer to delay testing. Talking to a genetic counsellor may reveal that someone feels pressured by their family, health professionals or even themselves – feeling that they SHOULD get tested, even though they might not want to. These decisions are very personal and a person always has the right not to know.

Genetic pathologist Dr Graeme Suthers said, “As genetics is an area where we are seeing a lot of growth, ensuring informed consent for tests is increasingly important. The skills and experience of genetic counsellors are highly valuable as a link between patients, pathology and clinicians.

It is also essential that we continue to upskill general practitioners and specialists ordering these tests for their role in supporting patients to navigate through decision making and understanding results, as well as referring to genetic counselling. We want to provide appropriate and informed access to genetics service for all Australians.”

More information about genetic counselling is available from the Human Genetics Society of Australasia (HGSA)