CLL Support Association

When your genome costs less than your iPhone: The beautiful, terrifying future of DNA sequencing

When your genome costs less than your iPhone: The beautiful, terrifying future of DNA sequencing

Jo Best has written an excellent article for TechRepublic on how we managed to reduce the cost of DNA sequencing from $100 million in 2001 to under $10,000 now and how companies like 23andMe can offer tests that provide information on a range of traits for $99. Well worth reading, even if you skip the more technical bits, particularly given the related societal changes that are now appearing based on this technology. Gattaca anyone?

"Mapping the human genome was one of humanity's greatest scientific breakthroughs. Now, the cloud and supercomputing are taking it to new heights, bringing breathtaking and disturbing possibilities."

If you have read submissions to this community regarding the difficulty of interpreting CLL cytogenetic diagnostic testing to determine your likely prognosis, you'll be aware of the complexity of just our CLL cells. So it will come as no surprise that the lack of standards of interpretation for genetic testing are causing officials concern. Because the tested DNA comes from lots of your cells that can differ slightly in their genetic markers, these tests are based on a cut-off percentage as to whether you are positive or negative for a particular marker. Some laboratories might provide greater detail on how frequently that marker is expressed, e.g. dim, average, bright, but the correlation of the presence of a given marker to your risk of developing a specific illness can be influenced by other markers that may or may not be tested by that particular company. There may be other, yet to be discovered markers that can change the result, or indeed differences in your environment that can influence progression towards some particular illness.

Australia's National Health and Medical Research Council releases guidelines after concerns online genetic tests may not meet quality standards:

Mail-in Genetic Testing Unreliable, Misleading (USA ABC News)

Prenatal Tests Have High Failure Rate, Triggering Abortions (USA NBC News)


Photo: All swans were once thought to be white...

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In Canada our investigative reporters are hot on the trail of this 'snapshot genetic' testing, they suggest...


1. Your genes are only one part of your risk: Lifestyle and environment also play a role in whether you get sick.

2. Not all kits look for the same health conditions: Make sure that a kit will screen for anything you're especially worried about. [none do CLL exomes]

3. Many DNA testing kits rely on subjective analysis of results, so different kits may give you different answers.

4. There are no industry standards that determine what makes you "high risk" of getting a disease.

5. Canada has no laws to prevent employers or insurance companies from requesting the results of genetic tests you take.

6. Talk to your doctor about your family history and risk before spending money on a test kit.

Buyer be VERY AWARE!



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