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."

Comments

Knome

[Anonymous Coward]

It about damn time KDE get it network object model environement...

Re:Knome

[SEWilco]

Yeah, but I use Gnome. Its genetic sequencing has an awful user interface.

Disaster waiting to happen

[oldspewey]

Considering the statistical prevalence of botched tests in the controlled laboratory environment of mainstream medicine, I shudder to think how many "wrong" results we will see when a pyramid company like Amway starts offering tests direct-to-consumer.

Re:Disaster waiting to happen

[pzs]

Don't even get me started on the complexity of the bioinformatics that will be involved in resolving this data. All you'll need is for somebody to misplace a switch in the pipeline of tools you need to analyse data from these insanely complex high-throughput sequencing devices and you could get completely unreliable results.

Of course, that won't happen because IT professionals never make mistakes.

The difference between a pathological and a normal allele could be just one SNP - any number of cockups in experiment or analysis could misidentify this kind of difference.

I know, this kind of misdiagnosis can happen anywhere, but these companies are selling some kind of miracle new method when we're only just getting started on understanding how high-throughput sequencing works. Bad idea.

Re:Disaster waiting to happen

[Belial6]

Seriously, just look at how complex a CPU is now, and think about the fact that everything from airplanes to street lights to your personal finances are controlled by the devices that are insanely complex with insanely complex production processes. Yet people trust these just fine.

Then there is the "But this is your health" idea. People are making huge choices every day with information that is already known to be loaded with errors. Why worry about this being any different. Hell, people are buying "health water" because it has few calories than the other brand of "health water". I would be WAY more concerned with people causing problems to their health due to misinformation about what "water" is than the same person being told that they have a low risk for breast cancer.

What about epigenetics?

[pzs]

Have your own DNA sequence would be cool and everything, but it's not everything. Epigenetic changes have a massive impact on gene expression, they're not included in the sequence and they're heritable. Of course, there are lots of things you can look at in the sequence, but you could miss a lot by getting too hung up on just the sequence.

Re:What about epigenetics?

[ruin20]

We're not looking for a complete work up here. Genetic testing becoming more available and consumable is a good thing as it should spur development in the industry. Additionally there are a lot of conditions for which people can have genetic predisposition and knowing that predisposition may change their treatment and behavior in ways that may actually save money. Being able to better focus and tailor one's individual medical care is a good thing and will hopefully lead to long term cost savings. I hope genetic testing for serious, long term disabilities that can drive up end of life care becomes common place as it could be used as a mitigation for rising cost of treatment.

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: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?

All downhill from here

[gbarules2999]

One of the more popular brands, called "plasmids," are bound to become mainstream, and, well, we have Bioshock to explain what happens after that.

Get everybody burning those Ayn Rand books, on the double!

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:Genetic Blackmail

[Devout_IPUite]

There was a law passed saying you can't discriminate on genetics. That law and the private health care industry are mutually incompatible, one will have to die within the next 5-15 years.

Re:Genetic Blackmail

[kungfugleek]

Or perhaps a well-known CEO of a wildly successful company keeping his shareholders in the dark about the truth of his personal health? Yes, as with any commonly available technology, the possibility for abuse is staggering.

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.

Re:Genetic Blackmail

[dk90406]

There was a law passed saying you can't discriminate on genetics.

There, that will stop the criminal blackmailer in their tracks. :-P
On a more serious note, IBM (and hopefully other companies), has made a corporate rule to never require genetic information from employees or from people applying for a job. They are out early, but that is only good, as future tests may reveal tendencies for violence, psychopathy or ...

Re:Genetic Blackmail

[7-Vodka]

That's really insightful. It brings to mind the movie GATTACA when ethan hawke had to be extremely careful of where he left his dead skin cells, saliva, hair, etc. But this will be the case regardless of whether these tests are direct to consumer.

Imagine a home kit for paternity testing. Someone could get access to some of the british royals saliva or hair and blackmail them with proof that prince harry was diana's lover's son. I know it's blatantly obvious already, the guy is a spitting image of her red headed ex lover and looks nothing like charles but you'd be amazed how many people don't believe it.

In fact, why not high-throughput this stuff? How long before companies install sample collectors on the subway and start storing and cataloging millions of people's DNA? How long before the government decides to do it en masse? I mean they're already expanding their efforts here here and here.

Hopefully people wake up at some point and demand legislation which states that their biological information belongs to them and cannot be used without their express consent.

Amway = Worst Possible Company for Genetics Ever

[jr76]

People do not possibly comprehend the accuracy required for genetics tests to have any validity, of which even current companies aren't the best at. By using a company like Amway, all that you're going to get is very rough probabilities, exactly the opposite of what consumers want, but what they'll be left with, since they naturally cut corners and need to do a CYA job, leaving that as the net result.

The only hope I can come of with this nonsense is that people begin realizing the NEED for accuracy on scales beyond you can imagine as a result of the useless of genetics tests when you don't do them right.

Note: I've already done these tests (NOT Amway, of course), which is why I know what I'm talking about here.

Re:My body, my choice

[Reality Master 201]

The same govt that plays politics with Schiavo's tubes

Whoa, there! Don't blame that political circus on the Govt as a whole - that was entirely GOP's political overreaching. Special intervention by the Governor of Florida, Bill Frist diagnosing a patient by video from the floor of the Senate, and then all the silly pandering and theatrics - that was all a play to the base.

Don't blame the entire government for the actions of some cynical jackoffs.

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/ and the doctor at that practice also has a blog: http://thegenesherpa.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 about the irrational decisions people make, partly because they don't understand statistics.

Re:I had a DTC Genetic testing startup

[Daniel Dvorkin]

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;

It is never morally wrong to give people information about their own bodies. Not ever. In nine years of patient care and twelve years of research, I have never encountered a situation in which deliberately withholding information from a patient was the right thing to do, and at this point I really don't expect I ever will. (I have, unfortunately, encountered many situations in which withholding information was the wrong thing to do, and have had to do it anyway as a matter of policy.) To be sure, it's better if the information is presented by the appropriately trained professional (who may be an MD, or may not, depending on the circumstances) who can best help the patient understand it, but in any case, patient information belongs to patients. It's theirs. They own it.

at least genetic counseling should be offered with the test.

Indeed, and it would be perfectly reasonable for a genetic testing firm to offer its tests on that basis: "We only do the test as part of a package that includes genetic counseling." But once the test is done, no one has the right to force the patients (or perhaps "clients" would be a better word in this case) to get the counseling in order to see the data.

Re:psychopathy?

[dk90406]

True, that is a risk. But all companies get their share of psychopaths today. They use people to screen them, and generally stop them before they are put in positions, than can damage the company.
There are many jobs they are not ideally suited for, but they may be damn good as programmers or other non-people facing jobs.

are you calling programmers asocial psychopaths?

[circletimessquare]

are you fucking calling programmers asocial psychopaths?

are you fucking sure you want to call programmers asocial psychopaths?

I SAID ARE YOU FUCKING SURE THIS IS THE WAY YOU WANT TO PLAY THIS?

are you fucking listening to me?

ARE YOU FUCKING LISTENING TO ME?