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.

The 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.

As 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!

Furst Last Thing: Paris, spies, women, and an education, what more could you want?

What's the secret to surviving the long dark nights of Winter? I'm not sure I know the answer; they seem to be getting harder to survive, but I'm fairly certain good fiction has a role to play. So I thought I would share what I've been reading lately: the Alan Furst Night Soldier novels. And I'm loving every precious minute. I am up to Blood of Victory which is #7 of 11. Here's the current list:

1. Night Soldiers (1988)
2. Dark Star (1991)
3. The Polish Officer (1995)
4. The World at Night (1996)
5. Red Gold (1999)
6. Kingdom of Shadows (2000)
7. Blood of Victory (2003)
8. Dark Voyage (2004)
9. The Foreign Correspondent (2006)
10. The Spies of Warsaw (2008)
11. Spies of the Balkans (2010)

Of course, I'm hoping that #12 appears before I finish reading Spies of the Balkans. Bear in mind that these days I only allow myself fiction reading when on vacation and last thing at night (the rest of my reading is centered around my day job plus figuring a way out from under all the crushing financial pressures--so fiction reading time is tight and no, there is no vacation).

Which is why I can so heartily recommend Alan Furst's novels: they are as dependable as heck. Okay, so dependable may not be the first word that comes to mind when you think of great fiction. But to me, dependability is critical. I don't want to be lying there on the warm sandy beach of incoming slumber and get jerked out of my reverie by the cold splash of a clumsy sentence, the rude slap of an awkward description, a broken turn of phrase or shard of erroneous data that breaks my reverie.

Now, I'm all in favor in plot twists or the abrupt presentation of uncomfortable realities, just don't make me have to scratch my head figuring out what you're on about. Furst's genius is to unfold his complex tales of anguish and espionage, amour and zeitgeist, without tying the reader in knots. And given the miliuex of these novels this is no mean feat. For a start, they are not set in English speaking countries. Heck, many of the countries in which they are set don't even exist these days; and as the novels unfold we sometimes learn, or are reminded, why these places are no more.

Although I am a big believer in the instructive power of history, historical fiction has never been my favorite genre, possibly because so few writers get it right. I don't think you can get it more right than Furst. And write now he's the last thing I read before I fall asleep.

FCC Eyes Reducing Barriers to Broadband Buildout

FCC Eyes Reducing Barriers to Broadband Buildout:

"Can't come soon enough for the narrowband wastelands and rural notspots."

The case for rural broadband used to be about the enormous benefits it can bring to rural communities. Now it is as much about halting the decline of those communities. The country as a whole is driven increasingly by broadband. Today, when a community lacks access to broadband it is outside mainstream America. Not only that, lack of broadband is pushing communities toward a downward spiral in property values from which it will be increasingly difficult for them to recover.

Herefordshire "aspires" to receive medieval boost to broadband

Genius idea: steeple-net wireless from church to church. Like silo-net in US. Wonder if any rural villages in US are trying this.

BBC News - Herefordshire to receive medieval boost to broadband

UK village installs own high speed broadband

Happy New Year!

In 2011 this could be the way to go for many small towns in America. Sounds like they put a DSL enabling switch in the village (getting a fiber feed from British Telecomm) and then were able to serve the local community with DSL.

BBC News - Rutland village installs own high speed broadband.

Bear in mind that English villages tend to be more densely packed than rural towns in America, but still worth investigating since the phone wiring is already in place.

Ross Noble: Ad Lib Improv Standup as Art

UK comedian Ross Noble demonstrates his amazing ability to create hilarious content out of thin air. Truly a gift. And a great way to cheer up your day.

Twitter's New Interface Still Has Issues (API Pop-Up Box Asks Me to Log In)

So, if I was running a social media service like Twitter, one which faces stiff competition, I would place a priority on fixing bugs. After all, if there are other places where people can share what is going on in their lives without bugs, people will tend to share there instead. Which is why it makes no sense to me that Twitter has had a known bug in its new web interface for about a year now.

This bug randomly pops up a dialog box asking for User Name and Password. If that wasn't bad enough, the box seizes focus and suddenly appears over the top of another browser window, which is annoying to say the least. However, that's not quite as annoying as the statement on the Twitter site saying "We are still in the preliminary stage of identifying the causes of this problem."

Great! Six months or more of complaints and you're still in the preliminary stage of finding out what the problem is? What other company gets to treat its customers like this? As a CISSP the headline statement that "Your account is not being phished/compromised" is particularly worrying. I mean a. How do you know? b. What a great scam. Here's how a bad actor intent on stealing user names and passwords could proceed: Create a phishing box that looks like the one that Twitter claims is not a scam. People Google the problem and get assurance from Twitter that this is not a scam, and the scam cheerfully carries on.

For about 15 minutes some 15 days ago I thought the bug was fixed, but n-o-o-o it came back, and it is ugly. It makes the new interface impossible for me to use in Firefox. I'm not going to switch browsers just to use the new interface. It should work in Firefox, which has more users than Twitter. So I am still using the old version of Twitter, which is not a huge inconvenience, but now Twitter has started telling me "You’re using an older version of Twitter that won’t be around for much longer." 

Great! Who would have thought this was a good business plan: Introduce a new version, discover and document bugs, fail to fix them, then make people use the new version. Just in case you think this is me being dumb or curmudgeonly, check out this page where Twitter cheerfully documents the bug as though it was of little concern, and more than 100 people describe their frustration with this ongoing problem.

I was going to supply my own comment but Twitter was over capacity last time I tried. IMHO this is not a sustainable business model, unless the point is to drive Twitter traffic to other interfaces or other social media services such as Facebook (which has never told me it is over capacity and has, despite an awkward interface, relatively few bugs).

Humor for the Holidays: Free comic clips from Ross "Duck Lord of Absurd Lib" Noble

As a Christmas New Year Hogmanay holiday gift and/or coping mechanism, British comedian Ross Noble has placed a series of clips from his shows in Australia on YouTube. This one is titled "Duck Lord."

Genetic Self-Gifting: Give yourself DNA self-knowledge

Holiday self-gifting is a term I don't recall hearing last century, so I'm thinking that the idea of giving yourself something for the holidays is a relatively new concept (please add a comment if you think I'm wrong about that).

Also new, relative to the tens of thousands of years that humans have been seeking self-knowledge, is DNA and our genetic makeup.  In this post I'm going to make the case for giving yourself a genetic test, a gift basket of chromosomic revelation (not sure if that's a real word, but hopefully you get the idea).

This gift is available now, specially priced, for a limited time only, at $99 (plus a few extra fees). Of course, I realize that genetic testing is controversial. Some people have strong feelings about genetic testing and not all of them favorable. So let me make some disclaimers right off the bat.

1. I don't own any stock in, or have any relationship with www.23andme.com which is the site that is offering the genetic test that I talk about in this post.


2. I don't get any referral fees or other payments if you act on this suggestion.


3. I don't think you should order a genetic test over the Internet unless you have read at least one book about the human genome, genetic ancestry, or genetic medical conditions, or been through genetic counseling.

The fact is, learning about your genetic makeup can be life-changing, and it can be traumatic. This is not something you do just for kicks. You do it for knowledge, about yourself and, by genetic implication, your family. For example, as attentive readers will know, my wife suffers from a genetic condition that has made her life miserable. It's called hereditary hemochromatosis. But if she had known about this when she was 18, or 21, or 30, there is a good chance her health today would be a lot better than it is. (Technically speaking she couldn't have known about it before 1996, because that's when the genetic connection was established but knowing in 1998 versus 2008 would have made a big difference.)

That's just one of the things that a comprehensive genetic test can do, alert you to genetic conditions that can be treated, enabling you to get treated sooner rather than later, which is almost always the better way to go.

Genetic testing can also tell you where you came from, as in way back before family trees were written down on paper. From previous genetic testing, purchased from Oxford Ancestors, I know it is quite likely my maternal roots go back Ursula, who was probably born about 45,000 years ago in the mountains of Greece.

On the paternal side my roots go back "to 25,000 years ago in the Ukraine." In that particular scheme of things I am Clan Wodan. Men with the same genetic code today are found predominantly in northern and western Europe," although the same coding is also found extensively in Armenia and Georgia where 40% of the inhabitants are members of the Wodan genetic clan.

Has this knowledge made a difference to my life? I think it has, but I couldn't tell you why, not yet. I'm still processing that information. And I'm also waiting to see what ancestral data 23 and Me turns up. For example, there is a story in my family that goes like this: My paternal grandmother once said her own grandmother was a gypsy, as in "smoking a clay pipe on the steps of a painted wooden caravan" person of Romani descent, which I think is awesome if it proves to be genetically plausible.

To put this in context, all the genetic data I have about myself right now suggests a totally European, and predominantly Northern European origin. In the vernacular you might say: Stephen is a pretty much the definition of "white guy" as proven by any photo of him in swimming trunks (these are mercifully rare). However, given the way my views on life have evolved, I think a little diversity in the mix would be very cool. (Not to mention the fact that genetic proof of a Romani connection would alter my family's perception of grandma, whose recollection of her Romani origins is suspected of being a romantic fantasy.)

So here's the deal on getting yourself some genetic self-knowledge: It's $99 plus a 12 month subscription to the 23 and Me Personal Genome Service, which is $5 per month. The normal price for this is close to $500 (I know because I seriously considered buying it about 3 months ago but decided I had higher financial priorities). Here's how 23 and Me works:

1. You pay $99 online and get your saliva collection kit in the mail about a week later.


2. You collect your saliva and send it back for the DNA therein to be analyzed.


3. You get online access to the results in about 7 weeks, make that about 8 or 9 weeks from your order, according to turn-around time on your end and theirs.

So it's not about immediate gratification, but the amount of data you eventually get is impressive. This includes a bunch of ancestral data plus 179 health-related results, including carrier status and disease risk (examples being Cystic Fibrosis, Gaucher Disease, Hemochromatosis, Sickle Cell Anemia & Malaria Resistance, Tay-Sachs Disease, see the list here).

The Personal Genome Service, which will start billing to your credit card at $5 per month only after you get your initial results, provides alerts when new discoveries are made about your DNA--like new markers--plus tools to view raw data and alerts when relatives are discovered (this is optional--you won't be contacted by anyone unless you give explicit permission).

Now, fair warning: I based the above 2 paragraphs on the claims made by 23 and Me on their website. I cannot guarantee satisfaction or that the company will perform as promised. That includes the very important promise to keep your results confidential.

For the record, I should state that I am a very open person. I tend to tell people a lot about myself ("too much" I hear someone say). To me, the security and confidentiality aspect of DNA testing is not too worrying. Could an insurance company get access to my DNA test results and deny me insurance? Frankly, it would not surprise me if they did, but then again I have a low opinion of the ethical standards enforced by insurance companies (which is not the same as saying everyone who works for an insurance company has low morals). Anyway, I'm going to order this test and live with the risk. Why? Because I want to know more about who I am, and there are worse risks out there than other people finding out the truth about me.

Let me be clear. I am of the opinion that the more people know about their DNA, personally and in general, the better. This is consistent with a broad belief I have in the power of transparency. Not everyone feels the same way, but I'd like to change that, through gentle persuasion. So I'm going to report back on my experience with 23 and Me and my DNA discoveries. I'm not promising to reveal everything, but I will share the interesting stuff and let you know what I think of the service.

So, if you don't gift yourself a DNA test for the 2010 holidays, maybe you will be ready by next year, after you read about my adventures in genome-land.