Game over for 23andMe, genetic testing for fun and profit

The market for personal genome services is facing a reality check. While the most prominent and innovative company 23andMe has flourished so far, in the past few years many of its competitors have gone out of business. Now, with the latest warning from the US Food and Drug Administration (FDA), the rest of the genome testing industry may be counting its days too. This is because 23andMe has failed to provide scientific evidence for their genetic tests and the FDA has urged them in a public letter to halt the marketing of their services until further notice.

The FDA treats genetic testing as a “medical device”, and it wants all such devices to meet high quality standards. In this the FDA is right. 23andMe provides information that may lead its users to self-medicate, which, if based on faulty information can lead to serious adverse effects. The FDA does not mind if people would like to know what their DNA sequence is, but it is concerned about the interpretation of that data by 23andMe.

The FDA’s letter is unlikely to have surprised the people at 23andMe. They acknowledge their own concern in their Terms of Service. They are also aware of the limited predictive ability of their tests for common diseases. 23andMe follows scientific progress in genetic risk prediction research closely, and by now they must have realised that the promise of personal genome services has faded…

By now…many scientific studies have investigated the predictive ability of risk models similar to those on which 23andMe’s tests are based. Their results have been mostly discouraging, even though researchers have never used that word. Genetic markers are generally unable to predict risk of common diseases, and adding more markers to risk models does not improve their predictive ability that much…

Champions of the genetic medicine revolution could have been warned by looking at the degree of “heritability” of diseases. The lower this percentage, the less predictive the test can become. 23andMe discloses these estimates: Heritability of melanoma is estimated at around 20%; type-2 diabetes at 26%; colorectal, esophageal and stomach cancer all around 30%; coronary heart disease between 39% and 56%; and type-1 diabetes between 72% and 88%.

But what does this mean? The high heritability of type-1 diabetes means that genes play a dominant role in causing the disease. If scientists manage to unravel all genetic markers for type-1 diabetes, a genetic test will be able to predict with high accuracy if a person will get diabetes.

Unfortunately, due to all the complex interactions between the markers, this full unravelling is impossible. The number of interactions is probably so high that every patient will have his or her own unique complex cause of disease. And what has never happened cannot be identified or predicted by big data.

The reality is that most diseases are simply not genetic enough. Other risk factors such as diet, body weight, smoking, exercise and stress are too important. And big data cannot change the biology of diseases – it will not make them more genetic.

That is why genetic testing for common diseases will never become as predictive as champions of genetic testing hope.

And purveyors of retail medical testing – like 23andMe – had hoped.

Like many, my wife and I enjoyed the results of National Geographics’ genetic mapping of the evolution of our ancestors. Hers held some surprises. Mine was like Gerhard Herm and his textbook anthropological history of “The Celts”. It worked well enough that we were considering 23andMe just to further our personal experience with the craft at its present state of development.

Not anymore, man.

Limbaugh still confused as ever by contraception

Back in August 2012, Rachel Maddow explained, “Apparently nobody ever explained to [Rush Limbaugh] how birth control works.” Over a year later, the radio host’s contraception confusion seems to be getting worse.

The most obvious example of this came when Limbaugh went after Sandra Fluke, arguing, “The women in her law school program are having so much sex, they are going broke buying birth control pills.” In the radio host’s mind, women apparently are supposed to take birth control pills with every sexual experience. (Note: that’s not how birth control works.)

Yesterday, Limbaugh made matters worse. You may have seen reports that some researchers believe a version of Plan B emergency contraception may be less effective for women over 165 pounds. As Samantha Wyatt noted, this led the radio host to an odd conclusion:

“Now we have learned that American women, 166 pounds and up, the Plan B pill doesn’t work. What will their option be? 166, 170 pound woman, pregnant, she wants to go ahead and get her morning-after pill, and then she’s told, ‘Sorry, you’re too big. You’re too heavy. It won’t work.’ What are her options? Well, she can either go on a diet, or she can get an abortion.”

This just doesn’t make any sense. To hear Limbaugh tell it, pregnant women seek emergency contraception, but that’s plainly wrong – the point of emergency contraception is to prevent pregnancy. It’s why it’s called “emergency contraception.”

Contraception really isn’t that complicated, and yet, Limbaugh continues to say things that suggest he doesn’t understand birth control at all. I’m sure if he asked nicely, Planned Parenthood could send him some brochures that would help him with the basics?

Americans who consciously dedicate their adult lives to superstition and ideology that refuses to confront advances in learning – much less embrace scientific change – are doomed to find themselves painted into corners like this.

If you don’t open your eyes, open your mind, it’s pretty much guaranteed you will harm yourself by running into reality-based immovable objects. The sad bit is that True Believers running along behind the stupidity-bus will likely experience even more injury – unprotected by a money cushion like the one surrounding Limbaugh.

Spies worry about Snowden’s doomsday cache

British and U.S. intelligence officials say they are worried about a “doomsday” cache of highly classified, heavily encrypted material they believe former National Security Agency contractor Edward Snowden has stored on a data cloud.

The cache contains documents generated by the NSA and other agencies and includes names of U.S. and allied intelligence personnel, seven current and former U.S. officials and other sources briefed on the matter said.

The data is protected with sophisticated encryption, and multiple passwords are needed to open it, said two of the sources, who like the others spoke on condition of anonymity to discuss intelligence matters.

The passwords are in the possession of at least three different people and are valid for only a brief time window each day, they said. The identities of persons who might have the passwords are unknown…

One source described the cache of still unpublished material as Snowden’s “insurance policy” against arrest or physical harm.

U.S. officials and other sources said only a small proportion of the classified material Snowden downloaded during stints as a contract systems administrator for NSA has been made public. Some Obama Administration officials have said privately that Snowden downloaded enough material to fuel two more years of news stories.

The worst is yet to come,” said one former U.S. official who follows the investigation closely.

Lots more in the article if you need to be updated on this part of the Snowden affair.

I have to laugh over the inevitably-unnamed American officials who qualify “truth” as the same as the “worst”.