‘Ticking away in the back of my mind’: what does it mean to know the risk embedded in your DNA?

Mortality has always been on Perry Jones’ mind, much more so than your average 20-something. She’s dealt with a number of challenging health conditions since her teens, so when her mother urged her to be screened for the BRCA1 variant and BRCA2 variant gene a couple of years ago (both of which indicate a high risk of breast and ovarian cancer) she didn’t exactly jump at the chance.

Jones, who has type 1 diabetes, coeliac disease and spinal development issues, speaks about her dealings with the health system in the world-weary way of someone who’s been in and out of waiting rooms her whole life.

“I’ve got the whole wazoo. So a part of me was like, ‘What’s the likelihood that I’m going to have another thing? It’ll be fine. There’s no point.’”

But Jones’ mother insisted. After all, she’d been diagnosed with breast cancer at the age of 40. “Mum said it’s better to know than not to know. And if we know, then we can warn others in our family and we can look into better treatment methods for ourselves in future.”

Eventually, Jones agreed to take the saliva test. “And then I forgot about it. So when I did get that phone call, to tell me I had the (BRCA1) gene, I was like, ‘Oh, you’ve got to be kidding me.’”

Perry Jones’ results have irrevocably informed the way she views and plans for her future.
Perry Jones’ results have irrevocably informed the way she views and plans for her future. Photograph: Tony McDonough

Jones’ results have the potential to save her life, but they have also irrevocably informed the way she views and plans for her future, regardless of whether she ever receives an eventual diagnosis. As technological advancements and decreasing costs make testing accessible to broader swathes of the population, what does it mean to know the risk embedded within our DNA?

The test case: 10,000 young people

Last month, Monash University launched DNA Screen, offering 10,000 people aged 18 to 40 “secure, free DNA testing to identify risk of cancer and heart disease that can be prevented or treated early”.

The study is a chance to gauge the public appetite for preventive genetic testing (as opposed to the current status quo of clinical criteria-based testing) and “could help Australia become the first country to offer preventive DNA screening through a public healthcare system”.

The appetite from people in this age bracket was overwhelming. The DNA Screen team initially aimed to contact young people across social media to spread the word. Instead, without social media promotion, the website reached their target of registering 10,000 people to do the at-home saliva tests … in 24 hours.

“The interest is enormous,” says Jane Tiller, co-lead of the project and ethical, legal and social adviser for Public Health Genomics at Monash.

DNA Screen, which is partly funded by the federal government, is attempting to pilot and demonstrate the value of population-level screening in an effort to provide greater access to genomics for everyone, similar to the mass bowel and breast cancer screening the government already funds for older Australians. Historically, the costs of genetic testing have been prohibitive, which meant it was only available to people with a family or personal history of disease, but up to 90% of people at high risk are not identified by current family history-based testing.

Although there are many genes that could be studied, the researchers picked 10 gene variants because the conditions they can lead to are medically actionable and there are already preventive measures for them – hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases the likelihood of having coronary heart disease at a younger age).

Those found to be at high risk after DNA testing – expected to be about one in 75 – will have their situation explained by experts and be offered genetic counselling and prevention measures, such as regular scans and check-ups. Given the stats, roughly 130 people from the study are likely to be found to be high risk. But what does it mean to scale up genetic screening and introduce mass preventive testing into any health system?

DNA Screen is hoping to demonstrate the value of population-level screening in an effort to provide greater access to genomics.
DNA Screen is hoping to demonstrate the value of population-level screening in an effort to provide greater access to genomics. Photograph: Animaflora PicsStock/Alamy

The prevention promise

“Bringing genetic screening into public health has huge promise if we use it wisely,” says Prof Ainsley Newson, professor of bioethics at the University of Sydney. But there are questions to consider. “For health problems where there isn’t a good way to find and diagnose people, can genetics help? If a gene test exists, is it reliable in diverse populations? Does it only detect what we want to know, and nothing else? Is the health system ready to support those who are identified as at higher risk? Is there something people can do with the information it generates, and is there evidence that they will take that action?”

Tiller and her co-leads have considered those same questions. “If we were to test the whole of Australia tomorrow – that would likely identify a number of people that may start to create a strain on a service that may not be resourced to deal with that many people,” she says.

“But we can’t pretend that just not screening is the answer to protect the resources of the health system, because people who are at risk and develop cancer and need care will eventually need that system. And it’s far better to front-load your preventive care and keep people healthy and well.”

The response for the DNA Screen study indicates there is widespread demand for this information beyond people such as Jones with family histories. It is powerful and heavy knowledge. Who seeks this information out?

“It’s a mix of people who are very big on preventive health – who see that connection between finding out information now and being able to do something about it and then people who are just curious,” says Tiller. “We’ve seen a huge increase in ancestry testing in recent years and people being interested to see what’s in their genes.

“There’ll always be people who say, ‘I’m not interested in that. I would be too worried. I wouldn’t want to know.’ And that’s completely a personal choice.”

Communicating what the results could mean is a vital first step. Tiller says they want to ensure people understand that finding a gene is not a diagnosis of a condition – and that not finding a gene doesn’t mean they won’t ever get cancer or heart disease.

“This isn’t about fear-mongering – we really want to say to people, ‘If you would like to know about this, this can empower you to take preventive steps for your own health.’”

Gaming your genes

So what does it mean for a young person to take on that information, to shape their hypothetical future with knowledge that wasn’t available to any of us just a few years ago?

“For the one in 75 people who are found to be high risk, it can of course be distressing,” says Tiller. “There’s a lot of support that’s required in the initial stages of giving people that information, giving them space to perhaps feel some distress, to grieve over what that might mean for them and to support them through the next steps of decision-making.”

Every person reacts differently to what their results could mean for them and their family. For Jones, her results have meant a cascading series of future choices and consequences, all of which are hypothetical at this stage.

Protective surgery such as a double mastectomy was initially suggested, which Jones has thus far resisted. She was also told that she should consider having her ovaries removed as soon as possible. “So that changed my view of my timeline for starting a family.”

Jones is also acutely aware she could pass the gene on to future children. She’s single and is studying a bachelor of design that she loves. She’d like to travel after graduation, maybe land an internship, meet someone nice.

Perry Jones at home in Western Australia.
‘Having the test gave me a sense of control,’ says Perry Jones. Photograph: Tony McDonough

But concurrently, at the age of 28, she has already weighed up scenarios such as freezing her eggs (she’s opted not to thus far); considered what she’d do if an embryo tested positive for the variant (she would abort), considered the financial implications of IVF (she’d rather conceive naturally, especially given she needs to save a deposit for a house); weighed up how she’ll tell a future partner about her genetic risk (she’d be upfront); and worried about menopause and what it means for removing her ovaries (“I’m actually more worried about that than the cancer at the moment to be honest”). Those possibilities are a lot to deal with, she says. She’s banking on her future self, “future and more mature Perry”, to be able to handle them.

The knowledge she carries with her “doesn’t keep me up every night, but it’s definitely something ticking away in the back of my mind”.

But despite all these considerations, Jones is grateful for the opportunity to be tested.

“Having the test gave me a sense of control, even if I can’t control whether or not I develop cancer. I’m in control of knowing about it. I know the risks and I know what steps I can take to capture it as soon as possible if it develops.”

Two years on from receiving her results, Jones is philosophical about living with what she knows. She’s much more vigilant and she’s made peace with having to endure extra tests.

She also reminds herself that there’s a chance that she may never be diagnosed. “I guess I just accept that it’s part and parcel of the body that allows me to live. So whatever it comes with, I’m just going to have to deal with. And as much as I don’t like carrying these genes, it’s better to be alive and have them than not at all. So I’m still thankful for this meat cage that contains my consciousness.”

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