For about a year and a half after Chontell Johnson discovered she carried an Alzheimer's mutation, the beautician trainer, a life-long planner, stopped preparing for her future.
''I ate great food, drank too much and I didn't save any money,'' she says.
Since then, Johnson has learnt to take each day as it comes.
''I would never have realised how strong I was until I [got tested] and made it through,'' she says.
Professor Peter Schofield, a geneticist and head of Neuroscience Research Australia, says research is challenging the perception among some clinicians that people cannot cope with the knowledge they carry a deadly gene mutation.
Studies by Schofield and others have found many people are open to genetic testing, and that many who went ahead with the sequencing and discovered they carried a mutation for a dominant genetic disorder did not suffer significant psychological distress in the short term.
''We found people were amazingly resilient to testing,'' Schofield says. It removed the uncertainty, and allowed people to make choices about their future care, he says.
But certainty made some decisions, such as whether to have children, gut-wrenchingly hard, Johnson says.
''I would like nothing more than to have three beautiful children and be a great wife,'' she says.
''But I watched my mum die, and it was excruciating. To know that is my future and to consider my children would have to watch me in that situation is huge.''
Genes, and some mutations, are what make families into a family. So the decision to get tested has implications beyond the individual having their genome sequenced.
A clinical geneticist, Professor Martin Delatycki, says only 15 per cent of people with a family history of dominant genetic diseases such as Huntington's, where offspring have a 50 per cent chance of inheriting the disorder from an affected parent but there is no cure or treatment, choose to learn if they carry the affected genes.
Part of Delatycki's job is preparing people for their test results, and then counselling them on what they mean.
''Some people, you tell them they've got a 50 per cent chance of getting cancer and they say, 'Fantastic, that means there's a 50 per cent change I won't get it,''' says Delatycki, the director of clinical genetics at Melbourne's Austin Health.
''Other people, I tell them they've got a very small risk of cancer and they find it very difficult to deal with,'' he says.
''Perception of risk is very personal.''
Zenon Slotwinski manages risk for a living. As a finance treasury manager, he knows the advantage of finding a faulty investment early. So when doctors discovered his mother's pancreatic cancer was partly caused by a mutated BRCA2 gene, he and his sisters got tested.
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