‘Running in the back of my mind’: What does it mean to know the danger in your DNA? | Genetics

MCorruption has always been on Perry Jones’ mind, much more than the average 20 thing. She’s dealt with a number of challenging health conditions since she was a teenager, so when her mother urged her to get tested for the BRCA1 variant and the BRCA2 variant gene two years ago (both indicating a higher risk of breast and ovarian cancer) she didn’t exactly jump at the chance.

Jones, who has type 1 diabetes, celiac disease and a growing spine, talks about her approach to the health system in the globally stressful way someone has been in and out of waiting rooms all his life.

“I have a whole wazoo. So a part of me was like, ‘What are the chances that I have something else?’ Things will get better. There is no need.”

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

Eventually, Jones agreed to take a saliva test. “Then I forgot about it. So when I got that phone call, to tell me I had a gene (BRCA1), I was like, ‘Oh, you gotta be kidding me.'”

Perry Jones' findings have informed irrevocably the way she views and plans for her future.
Perry Jones’ findings have informed irrevocably the way she views and plans for her future. Photography: Tony McDonough

Jones’ findings have the potential to save her life, but they also irrevocably inform the way she looks and plans for her future, regardless of whether she receives a definitive diagnosis. As technological advances and lower costs make testing available to broader segments of the population, what does it mean to know the risks lurking in our DNA?

Test case: 10,000 young people

Last month, Monash University launched DNA screen10,000 people between the ages of 18 and 40 offered a “free, safe DNA test to identify early, preventable or treatable risks of cancer and heart disease.”

The study is an opportunity to gauge the public’s appetite for preventive genetic testing (as opposed to the status quo of standards-based clinical testing) and “could help Australia become the first country to introduce preventive DNA screening through a public health care system”.

The appetites of people in this age group were overwhelming. The DNA Screen team initially aims to connect with young people via social media to spread the word. Instead, without social media promotion, the site reached its goal of registering 10,000 people for home saliva tests…within 24 hours.

Jane Teller, Project Co-Leader and Public Ethical, Legal and Social Adviser says: health Genomics at Monash.

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

Although there are many genes to study, the researchers chose 10 genetic variants because the conditions that can lead to them are medically actionable and there are already preventative measures for them – hereditary ovarian and breast cancer, Lynch syndrome, and familial hypercholesterolemia (which increases the rate of cholesterol in the blood). risk of coronary heart disease at a younger 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 genetic counseling and prevention measures, such as regular check-ups and checks, will be given. Looking at the statistics, it is likely that approximately 130 people from the study were at high risk. But what does expanding genetic screening and introducing mass preventive testing into a health system mean?

The DNA Screen hopes to demonstrate the value of population-wide screening in an effort to provide greater access to genomics
The DNA Screen hopes to demonstrate the value of population-wide screening in an effort to provide greater access to genomics Photo: Animaflora PicsStock / Alamy

Prevention Promise

“The introduction of genetic screening into public health holds great promise if we use it wisely,” says Professor Ainsley Newson, Professor of Bioethics at the University of Sydney. But there are questions to consider. “For health problems where there is no good way to find and diagnose people, can genes help? If genetic testing exists, can it be reliable in diverse populations? Does it only detect what we want to know and nothing else? Is the health system ready? To support those identified as most at risk? Is there something people can do with the information it generates, and is there evidence that they will take this action?”

Teller and her companions have thought about the same questions. “If we’re going to test the whole of Australia tomorrow – that probably identifies a number of people who may start to create pressure on a service that may not have the resources to deal with that many people,” she says.

But we can’t pretend that no screening is the answer to protecting health system resources, because people who are at risk, who get cancer and need care will eventually need that system. And it is much better to load preventive care up front and keep people healthy and well.”

The DNA Screen study response indicates that there is a widespread demand for this information beyond people like Jones with a family history. It is powerful and heavy knowledge. Who is seeking this information?

“It’s a combination of people who are very big on preventative health — who see the connection between finding out information now and being able to do something about it, and then people who are just curious,” Teller says. We have seen a huge increase in breed testing in recent years and people have been curious to know what is in their genes.

“There will always be people who say, ‘I don’t care about that. I would be very worried. I do not want to know. This is an entirely personal choice.”

Communicating what the results can mean is a vital first step. Teller says they want to make sure people understand that finding the gene isn’t a diagnosis of a condition — and that not finding the gene doesn’t mean they’ll never get cancer or heart disease.

“This isn’t about fear-mongering — we really want to tell people, ‘If you want to know this, this can empower you to take preventative steps for your health. “

tampering with your genes

So what does it mean for a young man to take that information, to shape his own hypothetical future with knowledge that was not available to any of us just a few years ago?

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

Each person reacts differently to what their results could mean for them and their families. For Jones, her results meant a cascade of choices and future consequences, all hypothetical at this point.

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

Jones is also fully aware that she can pass the gene on to future children. She is single and studying Bachelor of Design which she loves. She wants to travel after graduation, maybe get an internship, and meet a nice person.

Perry Jones at his home in Western Australia
Perry Jones. “The test gave me a sense of control.” Photography: Tony McDonough

But at the same time, at the age of 28, she has already evaluated scenarios such as freezing her eggs (she chose not to do so yet); you thought about what you would do if the fetal test result was positive for the variant (she would have miscarried), and considered the financial implications of IVF (prefer to conceive naturally, especially if she needs to provide a deposit for a home); assessed how she would tell her future partner about her genetic risk (it would be explicit); and concerned about menopause and what it means to have my ovaries removed (“I’m actually more concerned about that than cancer right now to be honest”). She says there are many possibilities to deal with. She is self-reliant on the future, the “future and most mature berry”, so she can handle it.

The knowledge she carries with her “doesn’t get me up every night, but it’s definitely something on my mind.”

But despite all of these considerations, Jones is grateful for the opportunity to audition.

“The test gave me a sense of control, even if I couldn’t control whether or not I had cancer. I am in control of knowing that. I know the risks and know the steps I can take to get it under control as soon as possible if it does develop.”

Two years after receiving her results, Jones has become philosophical in living with what she knows. She is more vigilant and has come to terms with having to endure additional tests.

She also reminds herself that there is a chance she will never be diagnosed. “I guess I just accepted that it’s such an inseparable part of the body that allows me to live. So whatever it is, I’ll have to deal with it. 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 am still grateful for this meat cage containing my consciousness.”

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