Direct-To-Consumer Genetics Testing Makes a Splash In Boston

eldavojohn writes "MIT's Technology Review has the scoop on the first annual Consumer Genetics Show starting today in Boston and it looks like the rage these days is genetic testing sans the middle-man physician. And it's getting more prevalent and more available: 'A number of companies offering direct-to-consumer genetic testing have cropped up in the past two years to capitalize on these advances, from 23andMe and Navigenics, which offer genome-wide scans to identify specific disease-linked genetic variations, to Knome, which offers whole-genome sequencing to the wealthy. Any doubts that personal genomics is making its way into the mainstream can be assuaged with a look at Interleukin genetics, a startup that sells genetic tests for heart-disease risk, B vitamin metabolism, and other factors through Amway, the direct-sales company.' Over-the-counter genetic tests may be much closer than you think. The article raises concerns that this information will be misused/misinterpreted or even provide a false sense of security. We've discussed some states prohibiting this last year."

Genetic Blackmail

[LSDelirious]

Wonder how long it will take before people start finding ways to criminally abuse these kits, by say testing someone else without their knowledge or consent then blackmailing them to not reveal their predisposition to illness to their health insurer, or in the case of a celebrity the media?

Re:What about epigenetics?

[interkin3tic]

Which is just one of the hundreds of ways unscrupulous companies could overstate the results they are selling.

I do think it's likely though that most companies will be following established markers, saying for example "You have form B of gene X which may predispose you to breast cancer, you should be more vigilant about getting mammograms. This does not mean you WILL get breast cancer." It would be quite an obvious ethical violation if a company like this were to say "You have gene Y, that means Y disease or good thing will happen."

In fact, I don't think these companies should deliver any news but INCREASED risk of certain diseases. No matter how many disclaimers you put on any "good" news, about how it's just one factor, you know people will just hear what they want to hear.

For example, if you tested for a gene that maybe lowered your risk of heart disease slightly, people would:

1. See that they have one marker for low risk of heart disease
2. Ignore/misunderstand the disclaimers that this is just one marker and there are numerous factors
3. Use it as an excuse to smoke and eat steak and eggs every day, saying "It's okay, I have good genes!"
4. Die of massive heart attack
5. Families sue these companies saying they lied, which will be a waste
6. PROFIT (for the lawyers)

But there are known risk factors in DNA sequences that have been established even when epigenetics have been ignored. Risk factors that you can do something about, like predisposition to certain types of cancers, are something people should be aware of.

Not so sure about predispositions to uncurable diseases like huntington's. I'm sure some of these companies will offer options to people who don't want to know about things they'll have no control over.

Re:Genetic Blackmail

[Qzukk]

how long it will take before people start finding ways to criminally abuse these kits

Who needs a kit for that? Just tell the person you ran the test and you're going to let everyone know what the results were, if they call your bluff move on to the next victim.

I had a DTC Genetic testing startup

[Ingenium13]

I actually had a startup doing direct to consumer (DTC) genetic testing for a mutation that gave resistance/immunity to HIV. For many reasons, we aren't around anymore, but the reasons included regulatory changes, a rapidly changing market, and ethics. I now feel it's morally wrong to offer these tests to consumers who have no idea how to interpret them and what they mean; at least genetic counseling should be offered with the test. Someone should not make life altering decisions without the consultation of someone trained in the area. For example, suppose someone gets a BRCA 1/2 test, which tests for predisposition to breast cancer. Suppose 60% of those with the BRCA mutation get breast cancer (don't quote me on that figure, but it's in that range). Many women may then decide to get a mastectomy, however, the actual likelihood is much lower than 60% (see Bayes Theorem). Without consultation, they may make a terrible choice, and unfortunately many doctors are not trained in genetics yet. I've since become involved with a doctor in the Connecticut/New York area who has started a practice centered on genetics. I'm now convinced that this is the only way to go, and that direct to consumer tests are simply a passing phase. 23andme and Navigenics even say that their tests are not medically useful. I have a blog devoted to this topic if anyone is interested: http://www.thinkgene.com/ [thinkgene.com] and the doctor at that practice also has a blog: http://thegenesherpa.blogspot.com/ [blogspot.com] In fact, if anyone wants a free genetic test that's better than the one offered by 23andme and Navigenics, and you happen to be in the New Jersey area, Coriell is giving them away (http://www.thinkgene.com/i-spit-at-coriell), and this is where the future of genetics is going.

Re:I had a DTC Genetic testing startup

[pzs]

Without consultation, they may make a terrible choice, and unfortunately many doctors are not trained in genetics yet.

In this case, the problem is that Doctors are not trained in statistics. The example you quote, and many more, are reference in this excellent book [amazon.co.uk] about the irrational decisions people make, partly because they don't understand statistics.

Re:What about epigenetics?

[blueskies]

Isn't that a good thing? The stupid people die off to make room for the rest of us?

Re:What about epigenetics?

[Red Flayer]

It's not just about risk of disease in the person tested. It's also about reproduction.

Genetic counseling is important for proto-parents who have inheritable diseases, or may carry an unexpressed gene for those diseases.

Furthermore, lots of insurance companies don't cover genetic counseling. It can get very expensive...

Example. I have slight hip displasia (genetic). My wife does not, but her brother does -- and her brother's son had a much more serious condition that was at least partially due to the same gene. My daughter was born with hip displasia and another related birth defect, which required multiple surgeries, although it was a minor defect.

If my wife and I want to have another kid, genetic testing will help us assess the risk of serious congenital disease. This risk assessment will help us determine if we are fiscally prepared for another child, since we'll need to factor in the potential cost of one of us not working, or paying for special care, if that child were to be at high risk for serious birth defects.

So, the question is, do I need to pay a genetic counselor $600, when I could get the tests done myself for $100? I have access to the studies that give the prevalence and severity of birth defects according to the genes of the parents. I just need to know (1) Do I have one copy of the gene or two and (2) Does my wife have 0, 1, or 2 copies of the gene.

So why shouldn't I be able to have these tests done myself, instead of having to pay the overhead of going through a genetic counselor?