Mortality has always concerned Perry Jones, much more so than the average twenty-something. She has struggled with a number of challenging health issues since she was young, and when her mother urged her to get tested for the BRCA1 variant and the BRCA2 variant gene (both of which are at high risk for breast and kidney disease) a few years ago ovarian cancer), she didn’t exactly jump at the chance.
Jones, who has type 1 diabetes, celiac disease and spinal problems, talks about her handling of the healthcare system in the world-weary way of someone who’s been in and out of waiting rooms all her life.
“I have the whole Wazoo. So part of me thought, ‘What are the chances that I’ll have something else? it will be fine It makes no sense’.”
But Jones’ mother insisted. She was finally diagnosed with breast cancer at the age of 40. “Mom said it’s better to know than not to know. And knowing that, we can warn others in our family and look for better treatments for ourselves in the future.”
Eventually, Jones agreed to take the saliva test. “And then I forgot. So when I got this call to tell me I had the (BRCA1) gene, I was like, ‘Oh, you’re kidding’.”
Jones’ findings have the potential to save her life, but they have also irrevocably informed how she views and plans for her future, regardless of whether she ever receives a diagnosis. As technological advances and falling costs make testing more accessible to wider populations, what does it mean to know the risk embedded in our DNA?
The test case: 10,000 young people
Last month, Monash University launched the DNA Screen, which offers 10,000 people ages 18 to 40 “safe, free DNA testing to identify risk of cancer and heart disease that can be prevented or treated early.”
The study is an opportunity to gauge the public’s 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 introduce preventive DNA screening through a public health system.” offers”.
The appetites of people in this age group were overwhelming. The DNA Screen team initially wanted to reach out to young people via social media to spread the word. Instead, with no social media ads, the site achieved its goal of signing up 10,000 people to take the saliva tests at home… in 24 hours.
“The interest is tremendous,” says Jane Tiller, co-lead of the project and ethical, legal and social advisor for public health genomics at Monash.
Related: A simple DNA test could detect common neurological disorders, study says
DNA Screen, which is partially funded by the federal government, seeks to test and demonstrate the value of population-level screening to provide greater access to genomics for all, similar to the mass colon and breast cancer screening that the government is already funding for older people Australian. Historically, the cost of genetic testing has been prohibitive, meaning it was only available to those with a family or personal history of disease, but up to 90% of those at high risk are not identified by current testing based on family history .
Although there are many genes that could be studied, the researchers selected 10 gene variants because the conditions they can lead to are medically feasible and preventative measures already exist for them – hereditary ovarian and breast cancer, Lynch syndrome and familial hypercholesterolaemia (which increases cholesterol levels; chance of developing coronary artery disease at a younger age).
Those who are at high risk after a DNA test – estimated to be around one in 75 – are given expert advice on their situation, genetic counseling and preventive measures such as regular scans and check-ups. Based on the statistics, about 130 people from the study are likely to be at high risk. But what does it mean to expand genetic screening and introduce mass preventive testing into every healthcare system?
The promise of prevention
“Bringing genetic screening into public health has great promise if we use it wisely,” says Prof Ainsley Newson, Professor of Bioethics at the University of Sydney. But there are questions to consider. “Can genetics help with health problems that there is no good way for people to find and diagnose? If there is a genetic test, is it reliable in different populations? Does it only recognize what we want to know and nothing else? Is the health system ready to support those identified as being at higher risk? Is there anything people can do with the information generated and is there evidence that they will take that action?”
Tiller and her co-leads asked themselves the same questions. “If we tested all of Australia tomorrow, that would likely identify a number of people who might be a burden on a service that might not have the resources to deal with that many people,” she says.
“But we cannot pretend that doing away with screening is the answer to protect healthcare system resources because vulnerable people who get cancer and need care will eventually need that system. And it is far better to anticipate your precautions and keep people healthy and well.”
The response to the DNA Screen study shows that there is a widespread demand for this information, beyond individuals like Jones with family histories. It is powerful and heavy knowledge. Who is looking for this information?
“It’s a mix of people who care deeply about preventative health — who see this connection between finding information now and being able to do something about it, and people who are just curious,” says Tiller. “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. I would be too concerned. I wouldn’t want to know’. And that is a very personal decision.”
Communicating what the results might mean is an important first step. Tiller says they want to make sure people understand that finding a gene doesn’t diagnose a condition — and that not finding a gene doesn’t mean they’ll never get cancer or heart disease.
“This isn’t about fear mongering — we really want to say to people, ‘If you want to know about this, it may empower you to take preventive action for your own health.'”
Play your genes
So what does it mean for a young person to take on 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 stressful,” says Tiller. “A lot of support is needed in the early stages to give people that information, to give them space, maybe to feel some heartache, to grieve about what this might mean for them, and to support them in the next steps of decision-making. “
Each person reacts differently to what their results could mean for them and their family. For Jones, their findings signified a cascading series of future choices and consequences, all hypothetical at the time.
A protective surgery such as a double mastectomy was originally suggested, which Jones has so far resisted. She was also told to consider having her ovaries removed as soon as possible. “It changed my perspective on my timeline for starting a family.”
Jones is also keenly aware that she could pass the gene on to future children. She is single and studying for a Bachelor of Design, which she loves. She wants to travel after graduation, maybe land an internship, meet someone nice.
But at the same time, at the age of 28, she was already weighing scenarios like freezing her eggs (she has decided against it so far); contemplated what she would do if an embryo tested positive for the variant (she would have an abortion); contemplated the financial implications of IVF (she would prefer to conceive naturally, especially given the fact that she was on bail on a house have to save); weighed how she will tell a future partner about her genetic risk (she would be open); and concerned about menopause and what it means to have her ovaries removed (“I’m actually more worried about it than cancer right now, to be honest”). Those opportunities are a lot to deal with, she says. She relies on her future self, the “future and more mature Perry” to deal with them.
The knowledge she carries with her doesn’t “keep me up every night, but it’s definitely ticking in the back of my mind.”
While I can’t control whether or not I develop cancer, I have control over knowing about it.
But despite all of those considerations, Jones is grateful for the opportunity to get tested.
“The test gave me a sense of control, even though I can’t control whether I get cancer or not. It’s in my hands to know about it. I know the risks and I know what steps I can take to capture them as soon as possible as they develop.”
Two years after receiving her results, Jones is philosophical about living with what she knows. She is far more vigilant and has resigned herself to putting up with additional tests.
She also recalls that there is a chance she will never be diagnosed. “I think I just accept that it’s an integral part of the body that allows me to live. So whatever it entails, I’m going to have to put up with it. And as much as I don’t like carrying those genes, it’s better to be alive and have them than not at all. So I’m still grateful for this meat cage that holds my consciousness.”