AMA to Control Your DNA? Asks FDA to ban direct-to-consumer genetic tests

It's no secret: I dig DNA. I'm into my genes. Deep ancestry excites me. Genetic defects perplex me. And I've spent a fair amount of time looking after someone who is suffering the crippling effects of Celtic Curse, a potentially deadly and surprisingly common genetic condition that went undiagnosed for too long (owing to a combination of medical ignorance and avaricious genetic patenting).

Lately I've been blogging and tweeting about 23andMe, a company to whom you can send your own DNA for analysis. I bought myself a ticket to 23andMe for Christmas and I've been delighted with the service they provide. I'm buying 23andMe for my wife for her birthday in April, but I'm buying it right now, before it becomes illegal.

Get Your Genome Mapped While You Still Can?

That's right, some very powerful people don't want you to have this kind of direct-to-consumer access to your DNA and they're looking to shut it down. Here's how one science writer put it:
the medical establishment is outraged by the idea of people having access to their own genetic information without the supervision of its members, and they want the FDA to stop it.

That's how Dr. Daniel MacArthur characterized the recent American Medical Association statement on the subject of direct-to-consumer genetic tests. Just to be clear, MacArthur, who blogs for Wired Science, has a PhD in Human Genetics. He's not exactly a novice in this field. And he's not not making this up. (Here's the Wired article.)

[Update: You can submit your own comments on this issue online, direct to the FDA, at this site up until midnight February 28.]

The AMA is the largest lobbying group for medical doctors in America and it is openly urging the Food and Drug Administration to recommend that "genetic testing, except under the most limited circumstances, should be carried out under the personal supervision of a qualified health care professional."

In other words, if your doctor doesn't think you need this gene or that gene tested, it does not get tested. And if your genes get tested, the results go to the doctor, not you. Whether you get the results is up to them, not you. After all, you're just a consumer. You might take things the wrong way. According to the AMA: "the involvement of a physician is essential in achieving benefit from test results."

Gatekeeping Has Already Begun

If the FDA decides you have to get a prescription to get your genes mapped, it would not be without precedent. New York State has already tried it, seeking to require residents to obtain their doctor's permission to get their DNA analyzed. I happen to know this because I live in New York and it was just before Christmas when 23andMe sent a little bottle to my village in upstate New York for me to spit into. I would then send them this sample of my saliva so they could perform a DNA analysis.


I was all set to spit when I noticed, on the 23andMe website, something about not spitting in New York. Seriously! I was warned that I could not use the kit to collect a DNA sample in New York. Fortunately, I was just a few days away from a trip to Pennsylvania. So I waited, took the DNA collection kit with me, spat into it in Pennsylvania, then mailed it to 23andMe from Philadelphia. At the time I thought it was bizarre, but I was not too worried. Then I read about the FDA hearings and I started to get very worried about doctors getting between me and my genes.


Why worry? For a start, I can give you a very real example of how this type of medical interference in access to genetic data could lead to needless pain and suffering. Because my wife has hereditary hemochromatosis our daughter is at risk for hemochromatosis, and so are any grandchildren, and so on. We want her to get tested. But what if she requires permission from her doctor and her doctor says no?


The current level of knowledge about hemochromatosis within the medical community as a whole is woefully inadequate. (This is not just a personal opinion. Studies have shown that someone with hemochromatosis has to see, on average, more than 10 doctors before they find one that makes the right diagnosis. And this is NOT some rare condition. Genetic hemochromatosis is the most common genetic killer in America!)


So it is quite possible that a genetic test we regard as critical for a family member may not strike a doctor the same way. The stories I read on the Hemochromatosis Facebook page lead me to think this is not implausible. After living with this knowledge for several years it is quite clear that my wife did not hit a run of bad luck. Her case is typical. And while we remain deeply grateful to the doctor who finally figured out why she was so darn sick, our feelings towards all the others who failed her do not incline us to think there is any benefit in appointing medical doctors as the gatekeepers of human DNA. I have already described how my cardiologist sent me a form letter to let me know I had a thoracic aortic aneurysm, which I didn't actually have. Sensitive? Professional? I think not.

Free to Be Me

If I look at my face in the mirror and see it is covered with spots, that is actionable anatomical data. As an adult I am considered by my peers to be capable of assessing the relative probability that these spots are acne, measles, an allergic reaction, or something unknown. Our society says I am free to access this data (the shape, size, color, number, and distribution of the spots).

I am also free to put this data together with other medical data that I own (such as known allergies and the medical histories of myself and family members). And I am free to act on this data, either by self-medicating based on my own assessment of the spots, or by seeking further advice, perhaps from a family member, or a pharmacist, a nurse, or even a doctor.

To me, my genes are no different from my anatomy. In a very real sense they are my anatomy. I should be trusted with access to them.

UPDATE March 27: We have started a petition to express our position to the FDA. Please sign if you can. Thanks!

The Big Day: Your Genetic Profile is Ready at 23andMe!

Small email, big day. On Friday evening, while I'm watching NBC Nightly News, a short and simple electronic message arrives on my iPhone informing me that my genetic profile, hundreds of new data points about my physical being, is available to me online. Now that is news I can use!

I skip the rest of Brian Williams and head to my office in the basement to fire up a web browser. I'm already registered at www.23andMe, that is part of the process for ordering their DNA analysis, so I log in and wait for the page to load. I am greeted with a simple but very powerful message: "welcome to you."

I check the calendar and see that it has been exactly 6 weeks since I mailed a small vial of my saliva from Philadelphia to California for analysis. The results are well worth the wait, they include data about everything from deep ancestry on my mother's side to my tolerance for caffeine.

And I see right away that all of this data is organized with considerable skill. I know a thing or two about the challenges involved in presenting complex, multi-layered data in an accessible manner (like the data involved in testing, targeting, and personalizing million-visitor consumer websites). Also, as many of my friends know, I have strong opinions about user interface design (I have personally appealed to Steve Jobs to put a proper Delete key on the MacBook keyboard).

But the UI at 23andMe works for me. Within 20 minutes or so I am navigating down to the research report that gave rise to the assessment that there is a probability that I might have a genetically-based learning problem. (Yes, there's some irony there.)

Of course, the first thing I check out, and I'm betting this is the case for most people when they get their 23andMe analysis, is Disease Risk. This is one of the 5 main categories into which 23andMe organizes your genetic data:
  • Disease Risk

  • Carrier Status

  • Drug Response

  • Traits

  • Health Labs

I do a quick scan of the 3 subcategories under Disease Risk. These are: Elevated Risk, Decreased Risk, Average Risk. Obviously the first category is going to get my immediate attention. There are a couple of items atop the Elevated Risk list: Prostate Cancer and Celiac Disease. The list is organized into 5 columns: Name, Confidence, Your Risk, Average Risk, and "Compared to Average." The only two items labeled with the symbol for strong confidence are Prostate Cancer and Celiac Disease. As you can see here, compared to average, it looks like I have a 1.12X risk of Prostate Cancer and 3.10X risk of Celiac Disease.

23andMe screenshotThe 23andMe web page lets me drill down to learn more about these diseases, but I already know that, unpleasant as it might be, a. Celiac is treatable with a gluten free diet and b. cereal has been my breakfast just about every day of my life, with no unpleasant side-effects so far. As for my prostate, it seems to be doing okay so far, based on that uncomfortable episode in my recent annual physical.

Of course, I realize that some people who get their DNA tested are going to see some scary stuff in this list. That is why some doctors think the Federal government should ban direct-to-consumer genetic testing, forcing all such tests to require a prescription and requiring a trained medical professional to deliver the results. Apparently, the fear is that some people won't understand what they are reading and will react badly.

Here's a personal perspective on that argument. You currently need a lot more than a prescription to get the kind of test that revealed my thoracic aortic aneurysm 7 years ago. How did the cardiologist inform me of that aneurysm? With a photocopied form letter that arrived at my house on a Friday after their offices closed for the weekend. How many words of advice and counseling about the implications of that test were included: 0.

So I'm not at all impressed with the argument that doctors should be in charge of the flow of information about my genes. (To expand on the above experience, I went to see the cardiologist after getting that letter and was so traumatized by his description of my condition that I quit a very good job in order to reduce stress, only to find out, 6 months later, that in the opinion of a respected cardiologist at the Mayo Clinic, I did not have, and had never had, a thoracic aortic aneurysm.)

But enough stalling Stephen, everyone wants to know what is behind door number one, the Locked Reports section at the top of the list above. This is how 23andMe handles really serious conditions. You have to make an explicit and informed decision to see the results. When you click to unlock the data, in this case pertaining to my genetic risk factors for Parkinson's, 23andMe provides a lot of information about the disease and how it is related to genetic factors. That means you are well-informed and well-prepared before you proceed.

In my next post I will unlock this information and share the results. Why? Because some people will find it interesting? I think the answer goes deeper and wider than that. The slogan of DEFCON III, the hacker convention I spoke at in 1995, was this: "Why? Because we can." And that's the way I feel about learning more about my genes. I can. Why wouldn't I? You might be thinking "His tune will change if he finds something bad in the results." I don't think that is the case, but we will see.

In the meantime, if you want a detailed blow-by-blow of getting tested by 23andMe there is a good account here, complete with pictures and screenshots. Although the author, Paul Stamatiou, is probably half my age, his motives seem very similar to mine. Paul wrote his account about a year ago. From my experience so far, 23andMe has improved in some of the areas Paul thought were a tad "early stage." And the price of the service has dropped considerably in recent months.

Bear in mind, we are only just scratching the surface here. After diseases, there are genetic traits to uncover, then relatives to discover and ancestral links to uncover (teaser: Ursula and Wodan are involved). The next installment of my genetic exploration will be posted shortly.

Happy New Year! Let the learning begin

To my faithful readers I just want to say: Happy New Year! And if you're a first time reader: Welcome, and Happy New Year to you too, and to your friends and family, and to the whole wide world. Let's make this the year we crank it up to 11, all across the board.

But Stephen, it's February already! Yes, I know, and there's a reason for that: I've been busy. And if you have ever worked for a software startup, like Google when it was in a garage, or The Facebook when it was in a dorm room, you'll know how it goes. There are days, even weeks, when it's all-hands-on-deck and the work is closer to 7x24 than 9-5. Well, January was a bit like that at Monetate, the rapidly expanding SaaS marketing company for which I am Evangelist and possibly Senior Writer (some might say senior writer, just because I do a lot of the writing and I'm the oldest person in the company--although that doesn't stop me tweeting and Facebooking my blog posts into major traffic drivers for the company website).

Anyway back to the happy part of the New Year thing. I actually think 2011 has a lot of potential to be a better year than 2010, although some of that sentiment arises from the fact there was a lot not to like about 2010, from the earthquake in Haiti to the BP oil spill, and many other natural and man-made disasters in between. On the other hand, we humans learned a lot of new things in 2010 that could help us understand the world a little better in 2011. Like how to rescue people from a mile below the ground. And the fact that homo sapiens has more genetic cousins than we previously thought (welcome Denisovans).

Speaking of genetics, and me, I embarked on a voyage of self-discovery in 2010 that should reveal some interesting facts in 2011. As I described in my December 20th post last year, I have submitted a DNA sample to 23andMe, the company that is pioneering direct-to-consumer genetic tests. Any day now I should be getting the results, which include medical and genealogical data.

I plan to share some of that information, and the experience of getting that information, here on the blog. (If it turns out I am a carrier for hemochromatosis I will be writing about that over on Celtic Curse.) So call it an experiment in transparency, or an exploration of the boundaries of personal privacy, I think it's a useful way to help others think about this aspect of themselves and their society.

Stephen Cobb's Privacy MeterAs some of you know, I have written a lot about privacy in the past, including a book and a bunch of articles, lectures, and so on. I recognized a long time ago that some people, myself included, are comfortable sharing quite a lot of information about themselves, but others are not. So one's own feeling about privacy cannot be the basis for privacy policies; a fundamental principle of privacy must be respect for the privacy concerns of people less comfortable with sharing information than oneself.

By sharing my gene test results I am not saying we should all hang out our genes in public. My decision to share parts of my genetic profile is a personal one, but hopefully one that will prove helpful to others.

2011 could be a very interesting year!