Genetic testing could tell you how you’re likely to die, but would you want to know?
2019 Feb, 21 | Source: abc.net.au
If you tend to think that ignorance is bliss, then genetic testing could be your worst nightmare.
Either way, it is an expanding field of medicine that could become standard practice in the not-too-distant future.
Genetic testing offers either reassurance or, in some cases, the bad news that you or your children are unlikely to live as long as you hoped.
For a growing number of Australians with a certain health history, genetic testing is free.
So far, tests exist to reveal if a person is carrying the gene to trigger diseases such as motor neurone disease (MND), Huntington’s disease, fragile X syndrome and certain cancers, among others conditions.
That list is growing all the time, and testing is becoming cheaper and more sophisticated with each passing year.
Testing for some illnesses can even pinpoint when the disease is likely to manifest.
The question for Australians who find themselves eligible for publicly funded genetic testing is, do they want the answers that a test provides?
‘I’d always be thinking about it’
Kaitlin Ellis, 25, and her older sister Jessica both tested positive for a gene that triggers MND.
The illness killed their mother Susan in 2017 and their uncle in 2010.
Three months after having the test done, they were told that they had a 99 per cent chance of developing MND, most likely at a similar age to their mother, around 57.
“I thought my life was over. It feels like you’ve just been delivered a death sentence,” she said.
They’ve since learned that the likelihood of developing MND is lower than that, but Kaitlin says she thinks about the risk every single day.
“Especially at work when you can’t open something or you have a little stumble or you feel a numbness in your leg or your arm”, she says.
Even though the news was hard to take, Kaitlin says the decision to have the test in the first place was relatively straightforward.
“Either way if I knew or I didn’t know, I’d be always thinking about it,” she said.
“I thought knowing I’d be able to be more proactive with my life.”
There’s still no cure for MND, but Kaitlin and Jessica were told that if they had children using IVF, the gene could be removed so it was not passed on.
Even so, Kaitlin still has not decided if she wants to have children.
“If I’m going to get it then I don’t want them to have to look after [me] and suffer as much as we did,” she says.
“I’d look after my mum for the rest of my life if I could, but it was really hard and I wouldn’t want to put someone else through that.”
Her 28-year-old sister Jessica sees the dilemma differently.
“Say you don’t have any kids but then the gene doesn’t activate, and then … I’ve just wasted my whole life and I didn’t have my dream of having kids,” she says.
“I think it would let down Mum if we didn’t have kids … I have no doubt they will be there for us the way we were there for Mum.”
Giving someone the worst news they’ll ever get
Genetic counsellors are a big part of the genetic testing process.
Ashley Crook was Kaitlin’s and Jessica’s genetic counsellor, and she says the role is to help people to understand their results, adjust to the information, and decide what to do next.
“When you walk in to meet with someone, you cannot predict how that conversation is going to go,” she says.
She says occasionally she’s met with anger, but it’s not the norm.
“People are pretty amazing, even in times of great distress,” she says.
Ms Crook works with patients in a range of situations, ranging from new parents and children, through to adults worried they might have inherited an illness or may be about to pass it onto their own children in the future.
In some cases, the illnesses are unable to be treated or prevented, but the information is still useful.
“Things like Huntington’s disease or inherited motor neurone disease … some people do use that information to make decisions about their jobs, their lifestyle, their marriage, whether they’re going to take more holidays,” she says.
“Even though there’s no medical benefit in knowing … knowing helps them to change their life plan.”
Genetic testing could become the new normal
Ms Crook estimates there are currently about 300 genetic counsellors working in Australia across the public and private sectors, but she says that figure is rising.
“We’re able to test things more than we ever could,” she says.
“And now we’re in a position where more testing is not only available but also more accessible.
“It’s cheaper, so it’s easier for public health to be able to fund.”
She believes that trend will continue, meaning most Australians will find they’re eligible for testing in the future.
One example of this expansion is the $500 million Government-funded genetic screening program called Mackenzie’s Mission.
“That’s becoming more routine and more routinely recommended by doctors,” Ms Crook says.
The program is expected to test 10,000 Australian couples before they conceive or in early pregnancy.