Many genetic tests just uncover one small bit of
your disease risk formula.
Image courtesy of Tungsten

Since 23andMe is offering data on Alzheimer’s risk but only with an upgrade, I decided to get that upgrade. I got the new results last week and opened it right up. There was a new Alzheimer’s link with a little lock on it.

The lock is to keep me out until I feel ready to deal with the news. Well, I’m ready…

When I opened the lock, I was given information about one gene, APOE. This was pretty disappointing. In my case, I was able to guess my APOE status with the old information.

I understand that for people who couldn’t guess their APOE status before that these new results might be useful. But I expected more. Lots of genes all impact our risk of getting Alzheimer’s and scientists are making real progress figuring these out.

What I was hoping to see was a compilation of all the information out there. See, my APOE data suggests that I am at a lower risk. But what if all my other genes are of the wrong type and put me at a higher risk? Then I might be at a higher risk than I think I am.

And my situation is better than people who have APOE gene versions that put them at a higher risk. What if all of their other genes put them at a lower risk? Now they are worried for no reason.

This points to one of the big issues with genetic tests and complex genetic diseases. Right now we know a bit about some of the genes involved but we don’t yet know the whole story.

It is kind of like having a whiteboard with a vast, awful, Jimmy Neutronesque formula scrawled across it. This is our genetic risk for getting something like Alzheimer’s.

Unfortunately, a blanket of ignorance hides most of the formula from us. We can only get a glimpse of one small part of it. What we then try to do is figure out our risk from that glimpse.

So let’s say we manage to uncover a bit of the blanket in the corner and we see a 0.5X. Does that mean that I am half as likely to get Alzheimer’s? Hardly. We have managed to see a piece of the whole formula but the rest remains hidden.

My APOE status is really just a bit of the formula for my Alzheimer’s risk peeking out from under the blanket. I don’t know the rest of the formula and so don’t know the rest of the risk.

APOE status is a well-studied risk that we know a lot about. We have completely uncovered it on our whiteboard. Some studies are staring to reveal other parts of the board but they aren’t completely clear yet. This is probably why 23andMe left them out.

I decided to look at the hazy parts of my equation using good old SNPedia. Remember, they have lots of information about DNA variants and disease that isn’t as filtered as is 23andMe’s.

Here is what I found when I put my data from 23andMe through SNPedia. I have listed the SNP, what I have at the SNP (the allele), and my risk for Alzheimer’s for those that give me a higher or lower chance for Alzheimer’s. I haven’t put in the ones that have normal risk.

I came out very well here. I am at a much lower risk for getting Alzheimer’s when I look at these SNPs. Yay!

But what if I just had s4934 data? I would come out thinking I was at a higher risk when I am actually at a lower one. Lots of needless worry over nothing…

Now I shouldn’t get complacent, this is still only a bit of my risk for Alzheimer’s. There may be some killer SNP lurking in my DNA, ready to spring Alzheimer’s on me. Or a long list of small, not-yet-discovered SNPs that will eat away at my supposed lower risk for Alzheimer’s. We just don’t know yet.

And I haven’t even begun to talk about environmental impacts. We know so little about that one with Alzheimer’s that we haven’t even found the whiteboard yet!

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I might be better off NOT knowing some things about my genes.

Last blog I talked about how I was able to wrest information about my APOE gene from my 23andMe data. I wanted to know because of this gene’s link to late onset Alzheimer’s disease.

APOE comes in three versions: e2, e3, and e4. People with two e4 versions are around 15 times more likely to end up with Alzheimer’s than are people with two e3 versions. And if these e4 folks do get the disease, it tends to come at an earlier age.

I found out that I actually have two e2 versions which protects me somewhat from getting late onset Alzheimer’s. Good news? I guess…

In all of this, I didn’t ask whether this information is worth knowing. Being e2/e2 doesn’t mean I won’t get Alzheimer’s…it just means I am at a lower risk. But at least I didn’t find out I was e4/e4. Then I’d know I was more likely to get Alzheimer’s but not be able to do anything medically useful with that information.

Being e4/e4 would not have meant that I would for sure end up with Alzheimer’s. So it wouldn’t be like having two copies of the delta-508 marker of the CFTR gene. In that case, I would almost certainly have developed cystic fibrosis. No, two copies of e4 would just mean that I was at a higher risk.

And knowing this wouldn’t be able to help me medically at all. There aren’t any good preventative measures I could take to stave off Alzheimer’s.

Now this isn’t always true with these kinds of increased risk genetic markers—some are definitely worth knowing. Women who have certain BRCA1/BRCA2 markers are at an increased risk for getting breast or ovarian cancer. They can choose to screen early (and often) in the hope of catching the cancer early when it is more treatable. Or, more drastically, they can choose to have their breasts and/or ovaries removed. Neither is really an option for Alzheimer’s.

So knowing my APOE status isn’t really that useful medically (at least not yet). I can’t do anything useful with the information other than wait and see if I end up with Alzheimer’s. Which is pretty much what I would have done without the test.

I’m bringing all of this up because 23andMe is now offering people their APOE information (with an upgrade to their new chip, of course). People can now find out their particular combination of e2, e3, and e4 markers*.

In the past, the question was whether or not direct to consumer (DTC) genetic testing companies should offer such a test. That ship has either sailed or is getting ready to leave the harbor. The test will be made available to people who really want the information.

So now the key question is whether knowing your APOE status is worth it. The answer to this question will be different for different people. Given this, the most important thing is for people to have the information they need to make the right choice about whether they want to know their APOE status or not.

One way to figure this out is with a genetic counselor but most DTC tests don’t mandate that you need to talk to one before you are tested. This means it is absolutely critical that the online information provided by DTC companies are presented in an easy to understand way that does not oversell the genetic test. The DTC companies need to be upfront in the fact that this test is not predictive and that there are no proven preventative measures that can keep Alzheimer’s at bay.

I’ll let you all judge how well 23andMe has done at letting people know about what you can learn from the APOE test and what you can do with that knowledge. Click here to read what they have to say.

* You have always been able to get your APOE status with a more expensive genetic test from deCODEme.

Learn more about how genes and the environment work together to cause Alzheimer's.

I put this video in the last blog but it probably should have gone in this one. It shows the unintended consequences of finding out you are e4/e4.

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I was having lunch with a colleague the other day and we got to talking about genetic testing (yes, we are that geeky). I told him about how my 23andMe test had missed my being prediabetic. This says a lot about what 23andMe’s test can tell me about my risk for diabetes. Not much.

Now as I have said before, the fact that 23andMe can’t tell me that I’m likely to become diabetic from their DNA test isn’t their fault (other than, perhaps, some overselling on their part). Diabetes research just isn’t far enough along to be able to accurately predict whether someone will get diabetes or not. Or to make any really meaningful prediction about diabetes at all.

We then got to talking about Alzheimer’s. Turns out his family tree is littered with Alzheimer’s on both his mother’s and father’s side. He ran into a similar problem–23andMe doesn’t report anything for Alzheimer’s.

But here the situation is a bit different than for diabetes. There are a couple of DNA markers that can tell us a lot about our future risk for late onset Alzheimer’s. It just so happens that 23andMe doesn’t report on them.

These markers deal with the APOE gene. This gene comes in three common versions: e2, e3, and e4. People with two copies of the e4 version are 15 times more likely to develop Alzheimer’s and if they do end up with the disease, it tends to come earlier. (One copy of e4 increases your risk about 3 times.)

With a little help from my colleague, I decided to dig a bit deeper into Alzheimer’s and see what I could figure out from what 23andMe did provide. Turns out I can figure out a whole lot about my APOE status. And that I can help other people figure out more from their results too.

The two markers (also called SNPs) that deal with APOE and Alzheimer's are rs429358 and rs7412. Here, according to SNPedia, are the combinations of these markers that tell you your APOE status:

To my surprise, 23andMe gives information on one of them, rs7412. Even though this isn’t usually enough to tell whether you have the dreaded e4 version or not, in my case it was. I almost certainly do not have any versions of e4 (yay!).

See, my results at rs7412 are TT*. If I am interpreting these results correctly, this means I almost certainly have two copies of the e2 version of the APOE gene. In terms of my Alzheimer's risk this is great news as being e2/e2 actually lowers your risk for getting the disease. (There is a chance I could be e1 but this doesn’t seem to be a very common version at all.)

Of course this doesn’t mean I won’t get Alzheimer’s…I still might. After all, the risk for someone over 85 getting Alzheimer’s is almost 50%. Even though this number lumps e4 and e2 folks together, e2 people do not have a 0% risk for Alzheimer's nor do e4 people have a 100% chance. People with e4 are just more likely to have Alzheimer's than e2 people.

It might help to think about getting Alzheimer's like drawing an inside straight in poker. Everyone might do it but people who are playing with wildcards are more likely to get it. These are the e4 folks. But it isn’t a for sure thing…you still may not draw the straight even with deuces wild.

Same thing with not having e4. Now I am less likely to draw that inside straight because there are no wild cards but it can still happen.

Because I was TT at rs7412, my case was pretty easy to figure out. Next blog I’ll try to help people out who are TC or CC at rs7412.

*Remember, we have two copies of each of our genes. So I have a T at rs7412 in one copy and a T at rs7412 in my other copy.

A video showing why knowing your APOE status isn't necessarily a good thing.

Learn more about current Bay Area genetic research from KQED's Forum.

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Dr. Edwards got his Nobel Prize for getting this to work in a Petri dish.

The 2010 Nobel Prize in Physiology or Medicine was given to Dr. Robert Edwards for his work on in vitro fertilization (IVF). Basically, he pioneered the fertilization of human eggs with sperm in a Petri dish.

IVF has obviously had a huge impact on society. Millions of infertile couples have been able to have children. And families that have severe genetic diseases in their family tree have been able to have children without these diseases partly because of IVF. (Preimplantation Genetic Diagnosis or PGD is the other part of that equation.) IVF has also provided a steady supply of embryonic stem cells for research.

Of course, there have been some downsides as well. Millions of frozen embryos will eventually be thrown away. This is mass murder to people who believe these embryos are a life. And being able to select embryos without genetic disease opens up the possibility of selecting embryos for more troubling, trivial traits like gender or hair, skin, and eye color.

At first blush, though, the science itself might not seem to be all that Nobel-worthy. He put an egg and some sperm in a dish, let the sperm do their work and then put the embryo back into a mom. Sounds too simple for a Nobel Prize. But it wasn’t.

Getting eggs is hard. And getting eggs that can be successfully fertilized in a lab is really hard.

When they first tried IVF, his research group found that the fertilized egg would divide once and that was that. Hardly the bouncing baby the infertile parents were hoping for!

So Dr. Edwards and his lab had to research how eggs develop in order to get eggs that could be successfully fertilized. Among other things, they learned in incredible detail the cascade of hormones required to get an egg ready for fertilization. It was collateral knowledge like this on the way to IVF that was a big part of why Dr. Edwards earned his Nobel Prize.

All in all it looks like the Nobel committee made a good choice in finally giving Dr. Edwards the Nobel Prize. Click here to see if you think this Nobel Prize stacks up to others in this category.

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Universal genetic testing may cause the break up of some families.

What became clear to me at a recent meeting I attended is that most everyone is going to have his or her DNA read in the near future. Another thing that became obvious is that scientists aren’t doing enough thinking about what impact this will have on society.

Here’s a seemingly trivial example. In most scenarios I have seen, children‘s DNA is read as soon as they are born. This will definitely have some huge health benefits especially as we learn more and more about how our DNA works and what it means. But this will also have some big unintended consequences too.

Parents will know both their kids’ and their own DNA. From that it will be pretty easy for most anyone to piece together whether or not a child is related to them. In other words, if everyone knows their family’s DNA, then every family will automatically undergo a paternity test. And if some statistics I have seen are true, then a whole lot of people are in for a nasty surprise.

The most recent numbers that I have seen are that something like 3-4% of fathers are unknowingly raising kids who are not their own*. Universal DNA testing will undoubtedly spill the beans in these cases causing many families to break apart.

This “misattributed paternity” is not an unknown problem today…genetic counselors deal with this sort of thing in their practice on occasion. Genetic counselors struggle with what to do with this collateral information and have the option of not revealing it to their patients. Withholding this information won’t be an option in a future where families know their DNA.

So in the not too distant future, up to one million dads in America will find out that little Susie or Jimmy isn’t theirs. Some will be able to deal with this but it will tear many families apart. This will obviously have a huge impact on society.

There will be more subtle effects too. Both men and women will quickly figure out that paternity won’t ever be a secret any more. If you have an affair and have a child, you will be found out.

Will this knowledge work as a sort of moral police, preventing people from having affairs? (Probably not.) Will people be more careful about contraception? Will abortions increase to cover up affairs?

As you can see, just knowing this little bit about our DNA will have profound effects on society. And I haven’t even talked about how medical care and the insurance industry might be restructured. Or how it will affect who you decide to have kids with. Or…

* This is the latest estimate I could find which is much less than the 10-30% number that med school students used to be taught. We won’t have an accurate number until more genetic testing of families is done.

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If you’re an adult and you can drink milk, then you are a mutant. Image courtesy of Collectie Willem van de Poll, via Nationaal Archief.

Over the last couple of weeks it has become obvious that my daughter is lactose intolerant. In most of the world, that wouldn't be a big deal. One study I saw claimed that at least 3 in 4 adults worldwide are lactose intolerant. And in some countries (like Thailand), over 99% of adults can’t drink milk as an adult.

This makes sense since lactose intolerance is the norm for mammals. Humans are one of the few animals where a sizable minority of adults are lactose tolerant. Scientists have noted this and have renamed the Eurocentric "lactose intolerance," lactase persistence.

Sigh, scientists never make things easy do they? Why not call it lactose tolerance so everyone understands?

They named it lactase persistence because of how lactose is digested in our bodies. Lactose is digested by the enzyme lactase and lactase persists longer in people that are lactose tolerant. Hence, lactase persistence.

Our cells make lactase by reading the lactase gene. In most mammals, this gene gets shut off in adulthood.

The programming for turning the gene off later in life is found in the DNA around the lactase gene. People with lactase persistence have a DNA change that messes with the programming. Now the lactase gene stays on so these folks can keep drinking milk and eating ice cream.

The “on” version is actually dominant over the normal one. In other words, lactose intolerant people need to get the normal lactase gene from both parents. So my wife and I are at least carriers—we can drink milk but carry one normal lactase gene.

I actually know that I am more than a carrier. I have two normal lactase genes even though I can still drink milk. This means that my gene hasn’t shut off yet but that it probably will at some point. Scientists don’t yet know why it shuts off early in some people like my daughter and later for others like me.

So how did some people end up able to drink milk as adults? Mutations and natural selection of course.

Most likely there is always a low level of lactase persistence in any mammalian population. Mutations (or new DNA changes) can and do happen and changes like this in the lactase gene are bound to be pretty neutral. In most situations there won’t be any advantage or disadvantage to having it and so it will stay rare.

This can all change if adults suddenly have to start drinking milk as happened in certain cultures in Europe and Africa. In these places, the few people with the right lactase mutation had an advantage and so did better than the lactose intolerant. Eventually, most people in these places could drink milk as an adult.

What is really interesting to me is the fact that European and African milk drinkers don’t share the same DNA difference. Each population had a distinct lactase mutation that became the norm. This is called convergent evolution—two populations arrive at a similar trait with different DNA changes.

However it happened, my daughter is now adjusting nicely to the milk-soaked culture she finds herself in. There are pills that let her drink milk as well as lactase-treated milk and ice cream. This means she can still have her favorite dessert in the world, chocolate ice cream.

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A few minor tweaks to genetic testing companies' websites could make their offerings more transparent to the public and the FDA.

The last couple of blogs I have been talking about direct to consumer (DTC) genetic tests. I talked about how the FDA has begun looking into them and why the FDA isn’t happy with what it sees.

In this blog I thought I'd propose a couple of different ways these DTC companies can present their data that might mollify the FDA. These changes will also let consumers know what they're really getting and whether they want it at all.

Before starting, I want to say that I will focus on 23andMe, a Bay Area company. I'm not picking on them. They are just the company I know best and one of the few that is good enough to survive the FDA's scrutiny. I also know a lot about them because I have taken their test.

23andMe has a very good website. They present complicated data in an understandable and easily searchable way. Their major weakness, though, is that they implicitly promise more than they can actually deliver. In essence, even though they are pretty good about disclaimers, they aren't good enough.

One of the first things the company should probably do is to reorganize the first page that potential customers see. They need to make sure that potential customers have a good idea about what they can and can't get from these sorts of genetic tests.

For example, right now a prominent feature is a box that lets the viewer search for the diseases 23andMe “covers” along with a list of popular topics. People may come away thinking 23andMe has useful tests for most of the diseases listed. They don't.

They have some useful tests for a few, rare genetic diseases. But the bulk of their tests are not at all useful yet in figuring out someone’s risk of getting a certain disease. What they have for the more complicated diseases is a way for people to compare their DNA to various studies in the scientific literature.

Maybe a study was done that found a DNA difference involved in diabetes. Customers can see whether or not they have this difference too but this tells them nothing about their risk for diabetes. It gives just one piece of a giant puzzle. They are not getting any meaningful results that can predict their risk for diabetes. This box should probably be heavily modified or even eliminated.

In fact, the website really should be organized into different sections that are labeled by how medically useful they are to the customer rather than by how strong the DNA study was scientifically. Maybe they could split their tests into three sections.

The first would be carrier testing. These tests can tell you if you have a hidden genetic disease that you could pass down to your child if your partner has it as well. This would get high marks for reliability, scientific validity, and usefulness.

The next section would be more fun related stuff. This would have ancestry and some of the traits testing. It would be able to tell you what your earwax is like, where your mother's, mother's, mother's, etc. mother came from, the odds that your child might have blue eyes, etc.

The final section would include the bulk of what is tested. These are the tests that compare your results to results in the scientific literature for complex diseases. Many of these tests would score high in scientific validity but get no points for usefulness. As I said before, most if not all of these tests will not give you an accurate risk assessment for the diseases they look at. Period.

There isn’t any reason these results shouldn’t be included, though. Maybe people enjoy seeing the results or want to use them to watch progress in the field or whatever. But the companies need to say upfront that these tests are not that useful for determining risk. This needs to be obvious enough that someone wouldn't buy the product just for that test.

As a last point, 23andMe (and all genetic testing companies) need to be much more upfront about what their tests can offer based on race. The carrier tests are probably pretty good for most everyone (although they may miss any nonwhite versions of many diseases). The fun section might be pretty useful to the nonwhite world for ancestry but probably less so for traits as they have mostly been determined for people of European descent.

Most of the rest of the tests they offer that deal with more complex diseases have only been validated for white people. This needs to be explicit on their website so nonwhite people know they aren't getting as much bang for their buck. Buyer of color beware!

These kinds of changes will go a long way towards making these sites more transparent to potential customers. And they may even keep the FDA at bay.

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Could you guess what this is from one of its hairs? That’s about how predictive current genetic tests are for complex diseases like prostate cancer or heart disease.

As I talked about in my last blog, direct to consumer (DTC) genetic tests are taking a beating right now from the FDA. Part of the problem has to do with some snake oil salesmen contaminating the whole field. But part of it has to do with the data that is available right now and how it is presented.

In this blog, I’ll deal with the data itself and why the FDA has such a problem with it. Next blog I’ll try to come up with ways to still get that data to consumers without ruffling any regulatory feathers.

A big problem with some of the current tests is that people will get different results based on the company they use. For example, the FDA reported that the same man was told he had an increased risk, the usual risk and a decreased risk for prostate cancer depending on the company he used. The FDA hates this kind of stuff.

To them (and many people), these kinds of results say that these tests aren’t working correctly. And given their experience with medical testing, they’re right.

A real medical test should give consistent results. If you take a test that looks at your cholesterol levels, your heart attack risk should be the same no matter who administers the test. Or if you take a genetic test to see if you are a carrier for sickle cell anemia, then again the results should be the same no matter who does the testing.

The genetic test for prostate cancer isn’t anything like these tests because it isn’t a medical test at all. It would be kind to even call it a work in progress. It is really just some interesting information at this point.

This is because we don’t have a good handle on the genetic risks for prostate cancer risk. There are almost certainly lots of different glitches in lots of different genes involved in increasing someone’s risks for getting prostate cancer. All of these variations need to be factored into a man’s risk for prostate cancer. And we only know about a few and those few have a pretty limited impact.

To add to the problem, different companies also look at different glitches or SNPs. So one company might look at one or two SNPs and say a man has a 1.2 fold increase in getting prostate cancer. And another might look at a different two and say he has a 1.1 fold decrease in getting prostate cancer. Different results but neither is particularly meaningful in predictive sort of way.

It is a little like trying to figure out what an elephant looks like from just the tip of its tail. And comparing that result to someone using an elephant’s eye lash to figure out the same thing. Odds are you’re not going to end up with the same animal. Just like you won’t end up with the same result from these kinds of genetic tests.

So when you have one of these tests done for complicated diseases like prostate cancer, diabetes, back pain, heart disease, etc., you’re only getting one piece of genetic information when you need 10 or 100 to figure out your actual risk. You have the eyelash or the tip of the elephant’s tail instead of the whole skeleton.

Now I don’t want you to walk away thinking that I am advocating that these companies shouldn’t give customers these results. I’m not. People should have a right to this information if they want it.

What I am advocating is that these companies come up with some way to explicitly state that these kinds of results are not useful medically. They need to be careful how they present the tests they offer and how they present the results. They don’t want to inadvertently lure customers into taking a test that can’t give them what they want.

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Maybe the FDA could set up a sort of Consumer Reports for genetic testing.

Over the last few years, a bunch of companies have sprouted up that offer genetic testing over the Internet. The most controversial of these are the ones that offer consumers the chance to predict their future health risks.

These particular direct to consumer (DTC) tests took a real kick in the teeth from Congress this month. It was a big enough wallop that I don’t think the companies will be able to survive in their current form. The real question now is what they will look like when all of this shakes out.

There has been some low level concern by the FDA about this sort of testing for quite a while now. But what really focused their attention was when a small company from San Diego made plans to offer their test through Walgreens. What the FDA saw was a test that promised more than it could deliver.

To be honest, this is true in one way or another about most if not all of these genetic testing companies. Few of them are able to deliver everything that many consumers think they can.

So the FDA has set out to right this wrong. Unfortunately, because of the industry’s lack of organization, the FDA lumps all these testing companies together. This is not fair.

Some companies like 23andMe, deCODEme and Navigeneics are basically good companies that need some FDA guidance. Other companies are rip-offs that should be shut down. One of the genetic testing industry’s tasks now is to provide the FDA with the tools to distinguish between these two groups of companies.

What might help is some sort of Better Business Bureau for genetic testing. Or maybe some sort of self policing umbrella organization that only the best companies can join. Or some outside group that evaluates each company. Any of these would help both Congress and consumers have a better idea about which companies they should use for their testing.

These companies can already be CLIA certified but that isn’t necessarily that helpful from a results perspective. It is important in that it tells a consumer that the company runs the tests very well according to professional standards. What it doesn’t do is tell consumers which claims are believable, which ones are iffy, and which ones are straight out lies.

Even though it will be very tricky to police the results, these companies need to figure out a way to do this or they’ll continue to get lumped together. And consumers will lose the chance to get testing through some of the better companies.

Maybe the FDA could set up a sort of Consumer Reports for genetic testing. It would be staffed by a few genetic scientists who would look at the scientific merit of these tests and determine whether the claims are true or not. This would then be published on a website and companies that were up to snuff would get a seal of approval.

Right now I don’t think any company except maybe DNA Direct would get that seal. So maybe we need some sort of rating system instead. One DNA helix means stay away, five means a perfectly legitimate company, etc. This could let consumers know which are the better companies without the FDA having to straightjacket the industry into irrelevance.

I'll tackle the problem of interpreting and presenting data in my next blog. What I’ll try to do is propose some ways to present the data so that any potential customers won’t be bamboozled (or at least minimize the risk).

Before I leave, I do want to voice a word of caution. A working assumption in the discussion here is that the better companies are pretty good. A sting operation by the GAO (no, really) may cast some doubt on this.

As you listen to this YouTube video, think about the fact that the first example is from Navigenics, one of the good companies. The good ones need to be more careful with their communications to the public or they may be wrongfully lumped in with the bad ones. Or with too many examples like this, maybe I should say rightfully…

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Results like these get a company noticed by the FDA. (Click the image for a larger version.)

A month or so ago a small company in San Diego struck a deal with Walgreens. Together they were going to sell genetic tests directly to consumers from drug store shelves. Sort of like how some paternity tests are now sold.

The resulting furor has caused Walgreens to back off. It has also awakened the slumbering beast—the FDA.

Last week the FDA sent a letter out to five different direct to consumer genetic testing companies about the genetic tests they offer. The FDA is arguing that these genetic tests are medical devices and therefore it has the authority to regulate them.

These tests actually consist of thousands of individual tests. If the FDA wants to regulate each one separately, there is no way that these companies will be able to make a profit. They’ll have to raise prices beyond what most people are willing to pay or simply fold up shop.

This is probably why companies like 23andMe and deCODEme shied away from medical sorts of tests before and instead focused on recreational genomics. They offered tests to learn about the DNA behind your earwax, lactose intolerance and lots of other little, fun traits. But people would learn very little about their disease-causing DNA.

The companies must have found that they had trouble finding enough people willing to plunk down 400 or 500 dollars for a fun genetic test. A new TV, iPhone, Wii are all more fun and cheaper.

So to scare up some customers, the companies began to offer more medical information in these tests. Undoubtedly they thought that people would be willing to pony up 400 dollars to learn about their risks for diabetes, heart disease, lots of rare genetic diseases and much more. A bargain by any standard!

Leaving aside the fact that most of these individual tests aren’t as useful as you might think, including medical tests introduces another problem. Including medical tests puts these companies square in the sights of the FDA which is not known for its liberal attitude towards medical devices.

To get enough customers to stay profitable, these companies need to offer medical tests. But if the FDA regulates these tests then the profits will go away. Or the companies will have to charge a lot more money which will drive customers away. A Catch-22 if I’ve ever heard one!

These companies may need to provide detailed evidence for each individual genetic test. Many of them probably won’t stand up to the FDA’s scrutiny and will have to be removed. Let’s hope for their sake that the remaining ones are still interesting enough to consumers. If the companies can survive the cost of complying with the FDA that is…

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