As medicine’s most complex test becomes more widely used, patients are asking questions about what it will mean for them and their families.
We asked genetic counsellor Ivan Macciocca for his perspectives on genomic testing in healthcare.
Ivan, tell us about your role.
I am the Principal Genetic Counsellor at Victorian Clinical Genetics Services. I work with families who may have a genetic condition. My role is to talk to them about what the condition is, what genetic testing options exist, and what impact that might have for the person being tested or their broader family.
It’s a great career and I’ve been doing it for about 20 years. Genetics feels like it’s changing every day – when I started out, I never thought we’d get to the point of being able to sequence a person’s whole genome. It’s been amazing to see how these developments have improved the way we can help families with genetic health issues.
Why might a doctor recommend that a patient gets a genomic test?
A lot depends on what’s happening for the patient. For example, a doctor might think it’s a good idea to get a genomic test because the patient has presented with a range of different issues, and they suspect an underlying genetic cause.
A genomic test may help identify that cause, and provide answers to the patient or family. It could also inform treatment or management strategies – to use cancer as an example, genomic testing can help focus the treatment for that cancer. Or for a child with a suspected syndrome, the information from the test could help the patient get access to services like physiotherapy or speech therapy – or even help them find a support group for their specific condition.
But if I had to summarise – it’s finding an explanation for the experience the patient is going through, trying to optimise the care they’re getting, and directing treatment in some circumstances.
What is genomics?
Learn about how genomics is changing healthcare and what’s involved in a genomic test.
Should you ever ask your doctor for a genomic test?
I mean, why not? It’s something for patients to explore with their doctor. Genomic testing is getting a lot of momentum and there’s a lot of hope pinned on it.
It’s reasonable for people to ask their doctor if they think a genomic test could help them – but it’s also good to remember that genomic testing is not the answer for all issues that a person might experience. So the dialogue with your doctor is important.
What kind of sample is needed for a genomic test?
It depends on what sort of analysis you’re doing on a patient’s genomic data. The most common sample types would be blood and saliva. For the saliva you can just swab the inside of a patient’s mouth to get the sample.
Do patients have concerns about genomic testing?
Not often at the coal face, to be honest. The majority of people I see just want an answer about their condition.
But there are people who are concerned about what happens to their genetic information. It’s important for health professionals to understand those concerns and what protections are in place – because you don’t want someone who could really benefit from a genomic test to refuse that test because of a misconception.
Insurance is one of the big concerns. Genetic and genomic tests don’t really affect health insurance policies in Australia, because these policies are community rated. But life insurance or death and disability policies can be different, and there’s a lot of discussion about that.
There’s also the chance of finding something you weren’t originally looking for in the patient’s genetic code. These are what we call incidental findings – they may or may not impact a person’s future health or their chances of having a child with a genetic condition in the future. We discuss these things with patients because we want them to be as informed as possible when embarking on this test.
How do you know if genomic testing is right for your family?
Two parents share their thoughts.
What happens if genomic test results impact a person's relatives?
Sometimes a person’s genomic test will find a genetic condition that runs in their family. It may be important for other blood relatives to know that condition exists and to get tested – so they can take steps to prevent or manage the condition.
Most genetic services can help patients communicate this information to their families. For example, I would give my patients a letter to pass on to their relatives. The letter provides information about the condition and invites them to contact us with questions or organise the test. This also allows the relative to discuss the letter with their GP.
But this may not always happen, especially if the genomic test is not done through a genetic service provider, or if family members live interstate or overseas.
I’d encourage anyone who wants to discuss their test results to make contact with a genetic service or get their doctor to refer them to one.
You said you’d seen a lot of change in 20 years. What do you think the future holds for genomic medicine?
I think the future is both exciting and daunting. Genomic testing is going to become much more mainstream, where people can get a genomic test in settings we haven’t explored yet. For example, there could be a time where you put your genomic information into a website, tell it what test you want, and get your pre-test counselling and post-test support via a bot. You’ll ask real questions and get real answers, but there may not be a human involved.
But in the short-to-medium term, we’re already seeing genomic testing being done outside of formal genetics services and across all kinds of specialties. It may even get to the point of being done in general practice in the not-too-distant future.