How a genetic test led this woman to get a double mastectomy

VIDEO ABOVE: Jane Tiller discusses privacy issues surrounding online DNA tests. Watch full ep. here.

Karenne uploaded the data she received from her DNA test to a third party website. Her intention was to find out whether there were any hereditary medical issues in her family.

“The very first thing that popped up was two BRCA genes,” she told Insight. “Which scared me quite considerably.”

BRCA is an abbreviation for “BReast CAncer gene.” BRCA1 and BRCA2 are two different genes that have been found to impact a person’s chances of developing breast cancer.

The first course of action for Karenne was to book an appointment with her doctor to talk through her genetic testing discovery. She wanted to get her doctor’s advice and find out if there was an option for further tests.
“My doctor pretty much said that it's too hard to be able to test the genes.”

But Karenne decided to send her DNA to another direct consumer site for genetic health testing. The results came back with a different cancer gene.

“Instead of just affecting breasts, it affects colon, bowel, breast, brain, skin, thyroid, there's a lot more to be concerned about.”

After seeing a genetic counsellor Karenne did a colonoscopy at the age of 47. She discovered that she had polyps that may have been on the verge of becoming cancerous.

“So by the time I turned 50 I would have already been fighting colon cancer.”

What to consider when taking a genetic test through a third party company

Jane Tiller is an ethical, legal and social adviser in public health genomics at Monash University. She said there are few things people need to consider when they do genetic testing through a third party website. Privacy is one of them, she explained, adding that consumers don’t know where their data will be sent and who will have access to it.

...People were given risk information that was actually inaccurate.

“I think people don't always realise when they check a box to say ‘yes, we'd like this to go to research’ that it's actually going to a pharmaceutical company for profit rather than maybe to a hospital for cancer research,” she told Insight.

“We don't always know which companies have those relationships and which don't, certainly in the terms and conditions they should say whether they'll share the data with third parties, whether they'll see your consent for it or not. Most people we know don't read terms and conditions.”

Tiller said people also need to make sure the company they’re sending their data to for testing is a reputable company and that they receive accurate information.

“A few years ago there was a study where they tried to validate results from interpretation websites and about 40 per cent of results were found to be false positives. People were given risk information that was actually inaccurate.”

“When you are not going through a clinically accredited genetic test you don’t know whether the information you are getting back is accurate or not and whether you should be making decisions based on that.”

Karenne is glad she did the test. She is now 50 years old and gets regular colonoscopies. She wants to get to the forefront of any health complication that may emerge. Due to her BRACA genes, (which had mutated increasing the risk of breast cancer) Karenne also underwent a double mastectomy in early 2021.

“I’m fully recovered now and more relieved and one less thing to worry about.”

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