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Thursday, March 26, 2015

At-home DNA testing kits let users access their genetic data online


FEW of us can claim never to have consulted Doctor Google to diagnosis a mystery illness.
Now patients can bypass the GP completely by ordering a DNA testing kit online and sending it off to be analysed for genetic traits.
Worried you may have inherited Alzheimer’s? Concerned about cancer? Or are you just wondering how well your body copes with caffeine? Simply spit into a test tube and then access a wealth of your genetic information over the internet.


The company has 850,000 genotyped members, and ships to 56 countries, including Australia.

The firm charges $200 for a kit, marketing its services as an extension of genealogy and ancestry sites. “Learn what percent of your DNA is from populations around the world,” reads the website. “Contact your DNA relatives across continents or across the street.”
A heartwarming video shows how sisters Greta and Stacy were reunited using the site, on which users can opt-in to be connected with unknown DNA relatives.
23andme was founded by Anne Wojcicki, ex-wife of Google billionaire Sergey Brin, who found success selling $99 tests to members in return for consent to share their genetic data, stripped of identifying information, for medical and pharmaceutical research.
The personal genome service provides data on carrier status, health risks and drug response, enabling users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease and Parkinson’s.
Australian sites already perform paternity and relationship testing, but 23andme offers a new level of insight, and with it, major psychological and physical health risks.
The site’s health reports were banned in the US in 2013 when the Food and Drug Administration wrote to the company to say it was breaking the law, although ancestry reports and raw uninterpreted genetic data are still available. The FDA warned of potential health consequences from false positive or false negative assessments, as well as the danger that patients might not fully understand a diagnosis.
People self-managing their treatment through dose changes or abandoning certain therapies risked illness, injury and even death, added the FDA.
But Canadians can still log on and learn their fate, thanks to a legal loophole. Macleansdocumented the trauma faced by one patient who sobbed when she learned she had a mutation of the APOE gene known as the e4 variant, the strongest hereditary risk factor for Alzheimer’s. Another said he was left with a hollow feeling after he learned he didn’t have a predisposition, knowing any future illness would be his own responsibility.

23andme, which encourages users to self-report in online surveys, has run partnerships with big pharma and the US National Health Institute, and is now launching its own research division to develop drug therapies.

The potential misuse of genetic information is vast, from discrimination at work to the eerie spectre of eugenics. A whole five years ago, Canada’s association for life and health insurers claimed the right to see results if applicants had undergone genetic testing.
Yet despite the many troubling risks, some say modern technology makes knowing your genetic makeup a matter of personal choice.


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