Jones, who has type 1 diabetes, celiac disease and spinal developmental problems, talks about her dealings with the world-weary health care system of being in and out of waiting rooms her entire life. “I’ve got the whole wazoo. So, part of me said, “What are the chances of me getting something else?” It will be fine. There’s no reason to.” But Jones’ mother persisted. After all, she had been diagnosed with breast cancer at the age of 40. “Mom 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 seek better treatment methods for ourselves in the future.” Eventually, Jones agreed to take the saliva test. “And then I forgot about it. So when I got 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 sees and plans for her future. Photo: Tony McDonough Jones’ results have the potential to save her life, but they have also irrevocably informed the way she sees and plans for her future, regardless of whether she ever receives an eventual diagnosis. As technological advances and reduced costs make testing accessible to wider segments of the population, what does it mean to know the risk embedded in our DNA?
The test case: 10,000 young people
Last month, Monash University launched DNA Screen, offering 10,000 18- to 40-year-olds “safe, free DNA testing to identify the risk of preventable or treatable cancer and heart disease”. The study is an opportunity to gauge 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 DNA screening through a public healthcare system’. The appetite from people in this age group was overwhelming. The DNA Screen team initially aimed to reach out to young people on social media to spread the word. Instead, without any social media promotion, the site achieved its goal of signing up 10,000 people to take the home saliva tests… in 24 hours. “The interest is huge,” says Jane Tiller, project co-leader and ethical, legal and social advisor for public health genomics at Monash. DNA Screen, which is partially funded by the federal government, is trying to pilot and demonstrate the value of population-level screening in an effort to provide greater access to genomics for all, similar to mass screening for bowel cancer and the breast that the government already funds for older Australians. Historically, the cost of genetic testing has been prohibitive, which meant it was only available to people with a family or personal history of the disease, but up to 90% of high-risk people are not identified by current family history testing. Although there are many genes that could be studied, the researchers chose 10 gene variants because the conditions they can lead to are medically applicable and there are already preventive measures for them – hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases the chance of developing coronary heart disease at an earlier age); Those found to be at high risk after a DNA test – expected to be around one in 75 – will have their situation explained by experts and offered genetic counseling and preventative measures such as regular scans and check-ups. Given the statistics, about 130 people from the study are likely to be found to be at high risk. But what does scaling up genetic testing and introducing mass screening mean to any health system? DNA Screen hopes to demonstrate the value of population-level screening in an effort to provide greater access to genomics Photo: Animaflora PicsStock/Alamy
The promise of prevention
“The introduction of genetic screening into public health holds enormous promise if used wisely,” says Professor Ainsley Newson, professor of bioethics at the University of Sydney. But there are questions that need to be considered. “For health problems where there is no good way to find and diagnose people, can genetics help? If there is a gene test, is it reliable in different populations? Does it detect only what we want to know and nothing else? Is the health system ready to support those identified as at higher risk? Is there something that people can do with the information it generates, and is there evidence that they will take that action?’ Tiller and her colleagues have looked at the same questions. “If we were testing the whole of Australia tomorrow – that would probably identify a number of people who might start to put pressure on a service which might not have the resources to deal with that many people,” he says. “But we can’t pretend that non-screening alone is the answer to protecting health system resources, because people who are at risk and develop cancer and need care will eventually need that system. And it’s much better to front-load your preventive care and keep people healthy and well.” The response to the DNA Screen study shows that there is widespread demand for this information, beyond people like Jones with a family history. It is powerful and heavy knowledge. Who is looking for this information? “It’s a combination of people who are very into preventive health — who see this connection between learning information now and being able to do something about it, and then people who are just curious,” Tiller says. “We’ve seen a huge increase in ancestry testing in recent years, and people are interested in seeing what’s in their genes.” “There will always be people who say, ‘I don’t care about that. I would be very worried. I wouldn’t like to know.” And that’s a completely personal choice.” Subscribe to Guardian Australia’s Morning Mail Our Australian morning news email breaks down the key national and international stories of the day and why they matter Privacy Notice: Newsletters may contain information about charities, online advertising and content sponsored by external parties. For more information, see our Privacy Policy. We use Google reCaptcha to protect our website and Google’s Privacy Policy and Terms of Service apply. Communicating what the results might mean is a vital first step. Tiller says they want to make sure people understand that finding a gene isn’t a diagnosis of a condition — and that finding a gene doesn’t mean they’ll never get cancer or heart disease. “It’s not about fearmongering – we really want to say to people, ‘if you want to know about this, it might enable you to take preventative measures for your own health.’
Play your genes
So what does it mean for a young person to take this information, to shape their hypothetical future with knowledge that was not available to any of us just a few years ago? “For the one in 75 people who are found to be at high risk, it can of course be worrisome,” says Tiller. “There’s a lot of support that’s needed in the early stages of giving people that information, giving them space to maybe feel some anxiety, to grieve what this might mean for them, and to support them in the next decision-making steps.” Each person reacts differently to what their results may mean for them and their family. For Jones, her results mean 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 so far resisted. She was also told that she should consider having her ovaries removed as soon as possible. “So that changed my perspective on my timeline for starting a family.” Jones is also well aware that she could pass the gene on to future children. She is single and studying design, which she likes. She would like to travel after graduation, maybe do an internship, meet someone good. Perry Jones. “The test gave me a sense of control.” Photo: Tony McDonough But at the same time, at age 28 she’s already weighed scenarios like freezing her eggs (so far she’s chosen not to). she thought about what she would do if an embryo tested positive for the variant (she would miscarry), she considered the financial implications of IVF (she would prefer to conceive naturally, especially since she needs to save a deposit for a house). she weighed how she would tell a future partner about her genetic risk (it would be upfront). and worried about menopause and what having her ovaries removed would mean (“I’m actually more worried about that than the cancer right now to be honest”). These possibilities are many to contend with, he says. She relies on her future self, the “future and more mature Peri”, to be able to handle them. The knowledge she carries with her “doesn’t keep me up every night, but it’s definitely something that sticks in the back of my mind.” Even though I can’t control whether or not I will develop cancer, I can control learning about it. Perry Jones 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 I will develop cancer or not. I have the control to know it. I know the risks and I know what steps I can take to catch it as soon as possible if it develops.” Two years after receiving her results, Jones is philosophical about living with what she knows. She is much more careful and…
