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

M ortality is something that has always been on the mind of the man. She 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 genes a couple of years ago, she didn't jump

In the world-weary way of someone who has been in and out of waiting rooms her entire life, Jones talks about her experiences with the health system.

The whole wazoo is in my possession. I was wondering if there was a chance that I would have another item. It won't be a problem. There is no reason.

Jones' mother wanted it that way. She had been diagnosed with breast cancer at a young age. It is better to know than not to know according to the mother. If we know we can warn others in our family and look into better treatment methods for ourselves.

Jones agreed to the test. I didn't remember about it. When I got the phone call telling me I had theBRCA1 genes, I was like, "oh, you've got to be kidding me".

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 gets a diagnosis What does it mean to know the risk in our genes as technology makes testing more accessible to a larger group of people?

Ten thousand people between the ages of 18 and 40 are eligible for free genetic testing to identify their risk of cancer and heart disease.

Australia could become the first country in the world to offer preventive genetic testing through a public healthcare system if the study is correct.

People in this age group were very hungry. The team wanted to reach out to young people on social media. Without social media promotion, the website was able to register 10,000 people in a single day.

Jane Tiller, co-lead of the project and ethical, legal and social adviser for Public Health Genomics, says the interest is huge.

The federal government is funding a project called DNA Screen that is trying to demonstrate the value of population-level screening in order to provide more access togenomics for everyone. Up to 90 percent of people at high risk for disease are not identified by current family history-based testing because the costs of genetic testing have been prohibitive.

There are many genes that could be studied, but the researchers chose 10 because they can lead to conditions that are medically actionable and there are already preventative measures for them.

Those found to be at high risk will have their situation explained by experts and be offered genetic counseling and preventative measures. More than 100 people from the study are likely to be found to be high risk. What do you mean by introducing mass preventive testing into any health system?

Prof Newson says that bringing genetic screening into public health has huge promise. There are questions that need to be considered. Can genetics be used to find and diagnose health problems? Does agene test work in diverse populations? Is it only capable of detecting what we want to know? Is the health system prepared to help people who are at higher risk? Is there something that people can do with the information that's generated, and is there evidence that they'll do it?

She and her co-leads have pondered those questions as well. She says that if we were to test the whole of Australia tomorrow it 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.

People who are at risk of developing cancer and need care will eventually need a system that protects the health system. It's better to front load your preventative care.

People like Jones with family histories are not the only ones who need this information. It's a lot of knowledge. This information is sought out by someone.

There is a mix of people who are very big on preventive health and who see the connection between finding out information now and being able to do something about it. There has been a huge increase in ancestry testing in the last few years.

There will always be people who don't like that. I wouldn't be too concerned. I wouldn't want to hear that. That is a personal decision.

It's important to communicate what the results mean. They want to make people aware that finding a gene isn't a diagnosis of a condition, and that not finding a gene doesn't mean they won't get cancer or heart disease

We want people to know that this can empower them to take preventative steps for their own health.

What does it mean for a young person to learn that information and use it to shape their future with knowledge that wasn't available to them a few years ago?

It can be distressing for the person who is found to be high risk. There is a lot of support needed in the initial stages of giving people that information, giving them space to grieve over what that might mean for them and to support them through the next steps of decision making.

Every person has a different reaction to their results. Jones' results have resulted in a cascading series of future choices and consequences.

Jones has resisted the idea of a double mastectomy. She was told that her ovaries should be removed asap. That made me rethink my view of when to start a family.

Jones knows that she can pass on the genes to future children. She is majoring in design and is single. She would like to travel after graduation and maybe get an internship.

At the age of 28 she has already considered a number of options, including freezing her eggs, and considering the financial implications of IVF. She says it's a lot to deal with. She wants to be able to handle them thanks to her future self.

She doesn't keep up with the knowledge she has, but it's something that's in the back of her mind.

Even if I can’t control whether or not I develop cancer, I’m in control of knowing about it.

Jones is thankful for the chance to be tested.

Even if I can't prevent cancer, the test gave me a sense of control. I have the ability to know about it. If it develops, I know what steps I can take to capture it.

Jones has been living with what she knows for two years. She has made peace with having to take more tests.

There is a chance that she won't be diagnosed. It is part and parcel of the body that allows me to live. I'm just going to have to deal with it. It's better to be alive and have these genes than not at all. I am thankful for the meat cage that contains my thoughts.