Last Friday 23andMe came up with Haplogroup Tree Mutation Mapper which is the first experimental feature that can be instantly tested by biogeek customers (a large portion of  the company’s customer base) in its freshly launched technology sandbox 23andMe Labs that is much like Google Labs.

Haplogroup Tree Mutation Mapper “shows you which particular mutations in a person’s mitochondrial DNA (maternal ancestry) or Y chromosome (paternal ancestry) were used to determine their haplogroup assignment.”

Basically you are picking the Y chromosome or type the name of a maternal mitochondrial haplogroup (like T) into the search box and as a result you get a list back with the position and id-s of the defining mutations. With that information you can play different genetic genealogy games if you like.

But playing with a pure textual list of SNPs doesn’t sound too fascinating and the tool is not really a “Mapper” as there’s no visualization included. Wouldn’t it be nice if you can visualize all those haplogroup defining SNP positions at once and get extra biological information on them right away? Well, you cannot do that within the 23andMe website but you can do that with Mitowheel which is a graphical representation of the circular human mitochondrial genome (Disclaimer: I am part of developer team, see post and the Mitowheel blog).

For instance the SNPs on the left are parts of the T haplogroup defining mutations used by 23andMe. The rCRS is the revised Cambridge Reference Sequence, the rs<numbers> are the reference cluster IDs of SNPs. rCRS is a reconstruction of a single European individual’s mtDNA, the source was an unnamed placenta without further identity and it contains several rare alleles. I’ve also heard rumors that some blurry nucleotides were replaced by cow DNA. The rCRS nevertheless provides a uniform nucleotide numbering scheme (0-16569) even if the 3106 position is a phantom position (like chief evangelist) as there was an incorrect duplication of 3107C in the original sequence. So if you check the rCRS positions on the list, the one you should use in Mitowheel is +1 position away that you can see in parentheses if you click on the individual SNP rsids within the 23andMe site.

So here are all the positions 23andMe is using for T haplotyping and you can type them into the Mitowheel search box: 10463, 13368, 14905, 15607, 15928, 188, 4917, 709, 8697 and step through all of them by clicking the arrow in the search box and get a lot of extra information by checking the info popup box.

As a 23andMe customer you can instantly look for functional information on your particular SNPs with Mitowheel by adding the nucleotide letters of your specific mutation to the positions like in 8697A, so the following is the result of the search for all of my T defining SNPs: 10463C, 13368A, 14905A, 15607G, 15928A, 1888A, 4917G, 709A, 8697A

As Mitowheel incorporates data on fully sequenced human mitochondrial genomes that have been deposited in the GenBank database the allele frequencies of 23andMe customers can be checked at those positions and groups can be created based on Gábor Zsurka’s, Mitowheel founder, post. Each little gray bar above or below a nucleotide letter represents the number of individuals who carry a SNP at the given position as compared to the revised Cambridge reference sequence.

The group creating search looks like the following in case of my T defining SNPs (a plus sign is added to the search items above):

+10463C, +13368A, +14905A, +15607G, +15928A, +1888A, +4917G, +709A, +8697A

In the past months Thomas Goetz begun writing a book on the radical changes already ongoing but mostly upcoming in healthcare due to affordable new technologies and quantitative approaches in personalized genomics and medicine.

The book is to be called The Decision Tree (explanation below) accompanied by a new website. Thomas is the perfect man for this job, he is the deputy editor of Wired magazine (=he is well informed and connected), a good journalist who took his job (writing on science, health and medicine) so seriously that he went back to school to get a degree in Public Health. Back in the days his very early coverage on 23andMe (actually published before the official launch of the service) was actually the only serious insight on 23andMe.

With this book Thomas will have a chance to become the Chris Anderson or Malcolm Gladwell of personalized medicine and public health.

“The premise is that we are at a new phase of health and medical care, where more decisions are being made by individuals on their own behalf, rather than by physicians, and that, furthermore, these decisions are being informed by new tools based on statistics, data, and predictions. This is a good thing – it will let us, the general public, live better, happier, and even longer lives. But it will require us to be stewards of our health in ways we may not be prepared for. We will act on the basis of risk factors and predictive scores, rather than on conventional wisdom and doctors recommendations. We will act in collaboration with others, drawing on collective experience with health and disease, rather than in the isolation and ignorance that can come with “privacy” concerns. And we will act early, well before symptoms appear, opting to tap the science of genomics and proteomics in order to mitigate our risks down the road.

Together, these tools will create a new opportunity and a new responsibility for people to act – to make health decisions well before they become patients. This can be characterized as a decision tree, a series of informed choices we will make to minimize uncertainty and optimize our outcomes. Indeed, we will use decision trees to navigate most of our health decisions, sometimes in overt ways – new decision support tools will both inform us and guide us, and they’ll be steeped in statistics, prediction, and the power of collective experience.”

After the first Twitter prediction here is my second one back from September, realized today:

and here we go….Happy Holidays Grandma you’got a 2fold risk for psoriasis but don’t worry too much about the Alcohol Flush Reaction and your caffeine consumption!

Actually I tried to convince Anna and my mom, also other relatives to enter the field of personal genomics and give me 2 mls of spits…so 3 kits would cost me circa 1000 bucks plus 3x$70 Fedex damage (no combined Fedex package for 3 kits?)…and how many dollars do I have? Oh, I think that’s private and hope Anna won’t read this post too.

But who will genotype Santa? And what about the singles? By the way, Christmas, here’s my video for you:

Tip: Genetic Future

New 23andMe website animation on human prehistory made by Ariana Killoran. Ariana created all the Genetics 101 films for 23andMe and the narrator was her pa. With these films the company clearly sets a new standard in popular scientific animations and videos.

Homo Erectus:

Neanderthal:

What do you think, which company launched the first commercial and comprehensive personal genome service (based on a genome-wide SNP scan) on the market and exactly when?

We have 2 candidates here in the ring deCODE Genetics (founded in 1996, Iceland) and 23andMe (founded in 2006, USA), the Amundsen and Scott of personal genomics. (please don’t take the analogy too seriously)

The when is important from a historical point of view because that day will be considered as the birthday of this infant industry. The birth month and year is November 2007 for sure. That means we are just approaching the 1 year anniversary of the commercial personal genetics/genomics industry and this sounds like a good timing to think about the achievements so far and the future ahead.

But let’s figure out the exact date first and here I think we should consider the day on which a personal genome service was launched for the first time directly available to costumers and when the first public orders were taken.

Using this measure it seems that the historically first personal genome service deCODEme was actually launched by deCODE Genetics on Friday, November 16, 2007. The official launch of 23andMe’s service was on Monday, November 19 although the first public orders could have taken even on Saturday, November 17. The media coverage of 23andMe was far more intense than of deCODE, including early service testing professional journalists by Wired and the New York Times. Likewise the blog coverage including me amongst others.

Over at the deCODE blog there was a bitter post apropos of the TIME Magazine announcement last week that the Personal Genome Service™ from 23andMe, Inc. has been named 2008’s Invention of the Year. In the post the company name 23andMe was not even mentioned 1 time:

deCODE staffers were buzzing about Time magazine’s announcement this week of its best invention of 2008: the retail DNA test. As the creators of deCODEme, the first personal genome scan on the market, deCODE staff members were not about to quibble about the date (deCODEme was actually launched on November 16, 2007).

Indeed, the value of deCODE’s capabilities and service is perhaps best demonstrated by the launch of web portals offering similar services based largely upon deCODE’s discoveries, and Time’s article underscored the potential of this new field by devoting considerable attention to the high-powered tech luminaries who have come chasing deCODEme’s tail.

The truth is that both companies are real pioneers in this very competitive landscape and that is something beyond doubt.

Happy First Birthday large-scale, low cost commercial personal genomics! (Perhaps the timing of Nature’s recent Personal Genomics Special is not just a coincidence.)

Here’s my gift video:

The newest Nature issue concentrates on personal genomics and its consequences via many types of articles some of them with free access.

I only read 1 piece so far by Erika Check Hayden, who has the exclusive freedom at Nature to always pick the best stories and write on any of them, but being a heavy 23andMe user I was instantly reminded again on the program Promethease with which I can extend the interpretation of my data with an approximately 2 hour run.

According to two commercial gene-testing services — 23andMe and deCODEme — US Army medic Timothy Richard Gall of Fort Belvoir, Virginia, has a higher-than-average risk of basal cell carcinoma, type 2 diabetes and psoriasis. But much more enlightening than these results, which cost Gall more than $1,400, was a free online program called Promethease that he used to further analyse the data. By offering more in-depth information and interpreting of more of his genetic variants, Promethease “gives a much more realistic view of the usefulness of the information”, Gall says. Start-ups and services such as Promethease are now developing ways to improve the limited value of information provided by personal genomics companies for consumers and scientists alike.

This is a golden day for 23andMe despite all crisis worries:

Mountain View, CA (PRWEB) October 30, 2008 — TIME Magazine announced today that the Personal Genome Service™ from 23andMe, Inc. has been named 2008’s Invention of the Year. 23andMe was chosen as the year’s most significant invention for its exceptional work in making personal genomics accessible and affordable.

From the industrial point of view what are the components of success here besides the obviously good team:

- mission: big, Google-sized mission: revolution of health care by personal genetic information as the source of upcoming personalized medicine

- biotechnology: based on the highest available technology platforms in microarrays (Illumina) (watch out, next gen sequencing is in the corner!)

- capital investment and network effect: I can only repeat myself:  23andMe is probably the most well-connected and backed startup in the history of Silicon Valley.(photo: happy 23andMe founders and early customers)

- information technology the cool and user-friendly factor of the browser based service is really amazing (in the past couple of weeks I demonstrated it to a bunch of people and even those were able to catch the essence of the available information who are older, web-unsavvy)

- simplicity of service: you just spit 2ml into a tube and FedEx it

- most aggressive marketing strategy based largely on the network effect among the power elite of the USA (and consequently, the world)

From the consumer point of view let me tell you 1 personal example of the lifestyle effect of the service: I am a coffee person who drinks usually 2 cups of coffee/day with a lot of milk and 1 coffee spoon of sugar. According to 23andMe I’m a fast caffeine metabolizer and lactase persistent/lactose tolerant which roughly means that I am cool with my current coffee drinking habit concerning the amounts of coffee and milk. Being a fast caffeine metabolizer suggests that drinking coffee probably doesn’t increase my heart attack risk although this is only a preliminary result that needs to be confirmed on larger statistical samples. Being lactose tolerant suggests that I probably don’t have to bother with the amount of milk in my coffee although I may still be lactose intolerant for other reasons which does not seem to be the case. But there’s 1 more component, the sugar and here it turns out that I have a bigger than average genotype specific risk for Diabetes Type 2 which is a serious business. So in this case my personal genotyping results confirm my everyday life practice and pushes me toward consuming even less sugar. Ever since I know this result I’m drinking coffee with only half spoon of sugar and also started to exercise daily.

Finally 23andMe, my first personal genetics service provider, is on Twitter which could mean that from now on first-hand company information will flow even more continuously compared to what the regularly/daily updated eminent corporate blog can offer. Microblogging is always quicker blogging! Based on the first 4 tweets (on the photo) the guys will not just simply link to the posts but communicate with other Twitterers and give informal & brand new info.

I ordered my first commercial genetic profile from 23andMe on the 9th of September online, FedExed my 2 ml saliva from Budapest to 23andMe, Mountain View on the 12th of September. I got the results today. That said within 3 weeks since the birth of the idea I purchased more than 500 000 SNPs of mine analyzed, evaluated and ready to be browsed. With this step I finally and quickly entered into the age of personalized genetics no matter how embryonic it is.

After a superficial first scan of my results I can say that it is a really interesting thing that instantly pushes me towards accumulating more knowledge on the personalized genetics field concerning specific traits, stats, risks and studies.

Here is a first look on what my Y chromosome SNPs are saying on my paternal haplogroup:

I learned for instance that based only on my genotype and not any environmental factors involved I have a lower than average risk for most but not all of the cancers and say heart attack while I have an increased risk for developing Type 2 Diabetes. Of course those results are relative to the average risks of the particular diseases and dependent on the size of the populations involved in the risk assessment studies amongst others. Many SNP variants are specially interesting considering my family’s clinical history and could be interpreted much better if my relatives’ genetic markers were available.

Having figured out how to handle my results publicly I continue the genetic disclosing.

It was already known that amongst the Google top people Sergey Brin is the one who is most interested in pushing biotechnology and the biomedical sciences: in his Stanford years he was interested in biology courses according to The Google Story, he married Anne Wojcicki (who graduted from biology at Yale), Google invested $4.4 million into 23andMe the pioneering personal genomics company co-founded by Anne, then Google invested into 23andMe competitor Navigenics too.

Now Sergey Brin added another, serious and personal reason to think that he is really, personally committed to the quick progress in the biomedical sciences: in his new blog – already a bit of an Internet history – called Too he disclosed that using the 23andMe personal genetics service he figured out something worrying about his and his family’s risk of Parkinson disease (his mother and her aunt are being already diagnosed with PD):

“I learned something very important to me — I carry the G2019S mutation and when my mother checked her account, she saw she carries it too.
The exact implications of this are not entirely clear. Early studies tend to have small samples with various selection biases. Nonetheless it is clear that I have a markedly higher chance of developing Parkinson’s in my lifetime than the average person. In fact, it is somewhere between 20% to 80% depending on the study and how you measure.

The G2019S mutation is actually the rs34637584 SNP and lies in the gene LRRK2 encoding leucine-rich repeat kinase on chromosome 12. The mutation affects the first codon of the gene and is a guanine (G)-to- adenine (A) substitution resulting known as a missense and  leads to a glycine – serine (hence the name) amino acid conversion in the protein product. Here is how the SNP position looks in the 23andMe browser using the sample family, the Mendels.

23andMe’s amazingly good corporate blog The Spittoon cited a recent article about the chances:

The risk of PD for a person who inherits the LRRK2 Gly2019Ser mutation was 28% at age 59 years, 51% at 69 years, and 74% at 79 years.

I am now waiting for the results of my 23andMe test and I think it is better if humans prepare themselves to make the jump to be curious, rational, balanced and modestly skeptical about their disclosed genetic information.

I must say that Brin’s attitude and conclusion can be recommended for everybody facing the same problem but the fact that it is a Google co-founder speaking here gives us a real chance against Parkinson disease which is really one of the worst aging related condition as the average age of onset is around 60 years of age.

This leaves me in a rather unique position. I know early in my life something I am substantially predisposed to. I now have the opportunity to adjust my life to reduce those odds (e.g. there is evidence that exercise may be protective against Parkinson’s). I also have the opportunity to perform and support research into this disease long before it may affect me. And, regardless of my own health it can help my family members as well as others.
I feel fortunate to be in this position. Until the fountain of youth is discovered, all of us will have some conditions in our old age only we don’t know what they will be. I have a better guess than almost anyone else for what ills may be mine — and I have decades to prepare for it.

So instead of thinking along the boring and impolite New York Times lines:

“Analysts said they did not believe that the news about Mr. Brin would have a negative impact on Google’s shares.”

let’s just say that the news about one particular nucleotide in Mr Brin’s chromosome 12 would probably have a long standing and huge positive impact on the fight against Parkinson disease.

/Here ends logically the original post, what comes after is related to it, but not strictly, let ask the readers…/

What’s really interesting for me is that this fight against PD directly related to the other more general fight Sergey mentions as a condition: “Until the fountain of youth is discovered”.

More than a month ago Aubrey de Grey, Chris Patil and me had a shared Aging and life extension session in the Googleplex’s Seville Room at the SciFoo unconference. I had a short 6 slide – 10 min presentation between the 2 other smart, funny and native speaker guys and I decided to highlight only 1 thing out of the many-many ideas I have in this field. This only thing was a strategical one as I tried to answer the question: What can Google do for fixing aging & life extension? right now technologically and accordingly I suggested something that only Google can implement concerning its scale and potential. Unfortunately I didn’t see Sergey or Anne in the audience (they visited probably another session more interesting to them) but we had a nice audience nevertheless.

The question of what Google can do for curing Parkinson disease or aging might easily be as important as building a colony on Mars and a NASA Campus. Extension in time is a deeper problem than extension in space.

Google already made the first steps to the biotech direction by inventing 23andMe/Navigenics. What are the next steps?

This is the first time we are hearing about anything of the health condition of the Google Founder generation as an issue in itself and as something time dependent and prone to decay. When Sergey/Larry (and us) are getting older and older I predict that the thoughts will be more and more on how to fix the physiological and mental state of the body to preserve work capacity than space traveling.

Concerning the chances for a robust life extension technology the Google founder generation is still in the ring, but hasn’t had too much time left to do sg. before the final knockout.

Earlier I wrote about The life extension bonus effect of personal genome services which is supposed to be in the range of 10 years today. I would add now that knowing our predisposed genetic makeup in details is an absolute necessary but not sufficient step and the only service available at this moment that can rationally help us to design a substantially longer and safer life.

As the second operation of building my genetically well informed future yesterday (2 days after completing the order) I collected 2 ml of my saliva with the help of 23andMe’s Oragene DNA self-collection kit manufactured by DNA Genotek. First operation has been the sequencing of the D-loop of my mitochondrial DNA out of 5 ml of saliva in the lab at Tulane as a last control experiment, more on that later.

I’d be curious to know approximately how many people in Hungary or in Central Europe, or in all Europe have already used personalized genetics services like 23andMe or the Iceland based deCODE genetics’ genotyping services. As the whole industry is less than 1 year old (starting November 2007) there are not too many public stats available or at least I haven’t found any. With the recent (8th Sep) announcement of the modest $399 kit price reduced from $999 the pioneering personalized genetics service is now affordable for a lot more people, like me (compare it to the $600 iPhone early adopter fee, which I was unable not to buy). 23andMe also seems unbeatable in the aggressive marketing strategy/campaign they are running in the various circles of society (say the fashion world).

Using the Oragene DNA stabilization buffer the big the collected saliva sample is stable at room temperature for over 6 months so there is no problem due to the transit delays.

So if all goes well, 6-8 weeks from now I’ll have a couple hundred thousands insight into the SNPs of a couple thousands of my buccal epithelial cells and leukocytes. So in this spit tube above there lies the early & tiniest portion of my genetically conscious personal future. (Of course my 1.5th thought was to involve my family but it won’t be so easy as it turned out).

It was time for me to enter personally into the age of commercialized-personalized genetics/genomics and not just to talk about it! New price, new customers! Here is my suggestion to the sales department of 23andMe!
23andMe Democratizes Personal Genomics With New Analytical Platform

BioBarCamp is due in circa 3 weeks and we have now 45 BioBarCampers signed up on the list of attendees and our host the Institute For The Future has the capacity for around 55 more campers, roughly for 100 people in general. We already have a very valuable mix: researchers, biologists (grad, postdoc, PI), coders-engineers-bioinformaticians, biotech entrepreneurs, doctors, science journalists.

View Larger Map

Here is the list so far and that’s also a chance for you to decide whether you want to join and meet us there in Palo Alto on the 6th and 7th, August and share, ask and answer, be the donor and receptor of ideas from all around biogeekdom. I am continuously trying to collect some links on the campers on the BioBarCamp FriendFeed Room to make future Campers preconnected.

Eva Amsen (writing, blog 1, blog 2)

Michael Andreg

Siamak “Ash” Ashrafi

Monya Baker (Nature Reports Stem Cells, The Niche) 7th, August (added by ACs)

Alex Bangs (Entelos, bio)

Pedro Beltrao (blog, postdoc@UCSF)

Jason Bobe (blog , www.personalgenomes.org, www.DIYbio.org)

Kevin Braithwaite

Martin Brandon

Mackenzie Cowell (diybio.org, pobol, cis-action)

Attila Csordas

John Cumbers (Brown / NASA Ames)

Aubrey de Grey (Aug 7th only)

John Delacruz

Joel Dudley

Daniel Erlanson (Sunesis Pharmaceuticals)

Adam Glickman (aglick35) InfoMonger of Technology

Nitin Gupta (UCSD webpage, personal web)

Jim Hardy (blog, web site)

Andrew Hessel

Joseph Jackson

Tito Jankowski (Brown iGEM)

Kambiz Kamrani

Wendell Lim (Lim Lab @ UCSF) Added by PB, will confirm closer to August

Alexis Madrigal (Wired Science, home)

Sofia Marshak (Marshak Clinic)

Jamie McQuay (Scimatic Software)

Cameron Neylon

Michael Nielsen (home, blog)

Guido Nunez

Matthew “Oki” O’Connor

Charles Parnot

Chris Patil (blog)

Ward Plunet (blog)

Prasanth Potluri

Heather Root

Kurt Qemish

Jonathan Rothberg (myhomepage)

Deepak Singh(blog)

Hilary Spencer

Peter Tsai

Ricardo Vidal (blog, OWW)

May Wang

Shirley Wu (psb workshop blog)

Andrew Yates (thinkgene.com)

It’s my first real encounter with a situation in which the officials of the state of California are clearly against innovation for financial reasons obvious enough (is enough):

Wired Science, Alexis Madrigal, upcoming BioBarCamper:

Exclusive: DNA Tester Reveals Cease-and-Desist Letter

Wired.com has obtained a copy of the cease-and-desist letter sent to Navigenics by the state of California’s Public Health Department from a company spokesperson.

The letter’s strongest wording is reserved for another section of the law, Business and Professions Code Section 1288, which requires a doctor’s note for all laboratory tests, unless, like pregnancy tests, they are exempt from that law.

“Genetic tests are NOT exempt,” the letter reads. “As such, the test must be ordered by a physician or surgeon.”

Kristine Ashcraft, director of operations for another genetic testing company, Genelex, which was not sent a cease-and-desist letter, criticized New York’s policy and the application of that framework to genetic testing in California.

“All they’ve done is created an extra billing event for the doctor,” Ashcraft said.

It’s official: The California Department of Public Health wants practicing physicians (many of them prehistorically, sorry, traditionally trained) to be the patres familias in issues between personal genetic test takers and direct-to-consumer personal genetic testing start-ups while declining the test takers’ right to get familiar with their own genetic makeup and risks by their own.
Calif. cracks down on 13 genetic testing startups

California health regulators have demanded that 13 direct-to-consumer genetic testing startups halt sales in the state until they prove they meet state standards. All the companies have two weeks to demonstrate to regulators that their laboratories are certified by the state and federal governments, said department spokeswoman Lea Brooks. The startups also must show the tests they are selling California residents have been ordered by a doctor as required by state law.

I give you trusted links instead of complicating your day with my own opinion:

California challenges genetic testing firms’ claims

Attention, California Health Dept.: My DNA Is My Data

Regulators, Genetic Testing Companies Begin Face Off

California Pushes Back on DNA Testing

The right to get yourself genotyped

“We really think that we can change Health Care…I want to change it in 5 years…it has to change and that’s we all are about” – says Anne Wojcicki, 23andMe co-founder, in the Google Tech Talk on Googling the Googlers’ DNA: A Demonstration of the 23andMe Personal Genome Service.

Also a good presentation by Linda Avey, other co-founder, for instance on data privacy and service security: “We take the security of our customers’ data to the highest degree…you guys (Googlers) are very much of the same mind..One of our leading engineers is probably the most paranoid man we’ve ever meet and he is the perfect guy for that.

Here are my screenshots on the genetic puzzle on the Google triumvirate presented by Anne Wojcicki:

More on 23andMe on Pimm:

23andMe on the biparental inheritance of mitochondrial DNA and more

inF.A.Q. for 23andMe: what if I have mitochondrial DNA from Pa?

23andWe follows 23andMe: First generation of Consumer-Enabled Research

How to predict the future via Twitter: Google invests in Navigenics

The second goal of 23andMe: using customer’s real health data later

The Spittoon: the eminent corporate blog of 23andMe and Consumer Enabled Research

Consumer-Enabled Research, the second goal of pioneering personalized genetics company 23andMe, reached its first generation with the launch of 23andWe.

From BusinessWire:

“23andWe marks a new approach to genetics research. By directly involving 23andMe customers in the company’s research projects, the goal is to conduct large-scale studies powered by a web-based community of diverse individuals who are willing to share information (on a confidential basis) about their health and other personal traits.”

video via Deepak

As Esther Dyson’s said on The Spittoon blog, which is the corporate blog of 23andMe: What You Can Do for 23andMe (and Future Generations)

“To learn more, researchers need to collect thousands of genetic profiles – and the health data connected with each of them – to find correlations between the two. That leads to a second goal of 23andMe – to collect a large database of genetic information and then come back to you over time with invitations to provide specific health data and participate in research.”

One of the first targets of 23andWe: the understanding of Parkinson’s disease through a partnership with the Parkinson’s Institute of Sunnyvale, CA.

A good introduction in Nature on the risks and advantages of letting people know their genetic risk information via personal genetics services. I do hope that the test-takers will finally become the risk overtakers.

Helen Pearson: Genetic testing for everyone

Direct-to-consumer genetic testing is a rapidly growing market — the past year has seen the launch of companies, such as Navigenics and 23andMe in California and DeCODEme in Iceland, that offer DNA screening for a range of common genetic variants linked to disease. The testing outfits have created a buzz in the business and research communities as well as in the wider public: Google has invested in two of them and Navigenics briefly opened a store in New York’s hip SoHo district.
“It’s an intriguing idea that you can peel back your genome and reveal your future.”
The idea is that test-takers will be alerted to risks and so take preventive action where possible. But psychosocial scientists who study how people respond to risk information say there is scant evidence that people are affected deeply by genetic test results, or that such tests spur much change in behaviour.

“In public these genetic-testing companies have made a big splash, and it’s an intriguing idea that you can peel back your genome and reveal something about your future,” says Robert Green, who studies Alzheimer’s disease at Boston University in Massachusetts. “But if that idea disappoints,” he adds, “some of the lustre will fade.”

Breaking the news:

With so much uncertainty about how people deal with genetic risk, is genetic counselling necessary or helpful for people undergoing the less definitive tests for an increased propensity for heart conditions or diabetes? “I’m convinced it’s necessary,” says Tibben. But he and others in the field acknowledge that there is little in the way of controlled trials to support their belief.

“We can’t say empirically that people are better off after seeing a genetic counsellor,” says Barbara Biesecker of the US National Human Genome Research Institute in Bethesda, Maryland. Even if counselling does seem beneficial, as some studies suggest, it is not known why. Did the counsellor help the patient understand complicated risks, or just provide some face-to-face contact and empathy in a confusing medical world?

It seems that my favorite ever unconference, the SciFoo Camp will be aroundunconferenced by a BioBarCamp this year. The whole idea of the BioBarCamp is based upon the SciFoo Camp, so it is by no means a competitive but a complimentary event.

From the BarCamp wiki: “The BioBarCamp is an idea (fed by the tweets of the BioTwitterer community) to organize a life sciences – biotechnology – personalized genomics & medicine – bioinformatics unconference at the Bay Area around the 3rd SciFoo Camp time, which is 8-10th August. The SciFooCamp generates a lot of enthusiasm & activity but not just for those who are invited (only 200). On the other hand, it would be nice to organize a bio-related BarCamp, just like the Cambridge BarCamb, in which the bio-related SciFoo Campers and all the other biogeeks could gather together.”

The main activity is happening right now at the public BioBarCamp Google Group. If interested please join there or just follow the discussions. We are right now in the process of finding a proper venue and sponsors and any help would be most welcome. Right now 6 or 7 August seems to be the consensus day and we have a very generous offer from The Institute for the Future via Alex Soojung-Kim Pang in Palo Alto (no response from 23andMe so far, see below).

It’s against a classic Twitter story, just like this before. You can reconstruct the whole conversation with Twitter Search Engine Tweet Scan by searching for terms SciFoo, BioBarCamp, SciBarCamp but here are my selected tweets:

Scene One, 04/10/08 How the idea was born on that day in reverse chronological order:

Scene Two 04/22/08 How the biospecificity and name was born alongside with a possible venue idea:

Scene Three 04/23/08 an instant and crucial help from Eva Amsen of Easternblot who happens to be one of the organizers of the Toronto SciBarCamp and also a Twitter user. Eva simply passed on the BioBarCamp info to her fellow SciBarCamp organizers Jamie McQuay and Jen Dodd. Eva’s tweet:

Wow, I guess it’s time for me to move into the stock market business! Here’s the story via David Bradley’s tweet: Julie Kent, Search Engine Journal, April 21st, 2008: Google Wants to Index Genetic Information, Invests in Second DNA Start-Up

In 2007, Google made headlines when they invested $4.4 million in 23andMe, a genetic screening start-up company began by Anne Wojcicki, the wife of Google co-founder Sergey Brin, and a business partner. But if you thought that was Google’s only interest in genetics and DNA, you’re wrong. Google has also been investing in a second DNA start-up called Navigenics, which for $2,500 and a small bit of saliva will provide you with genetic test results delivered securely online containing information about the likelihood for 18 medical conditions.

What’s really funny here is that I predicted this investment last Friday, on the 18th, on Twitter. The original idea was Aaron Swartz’s Google thought experiment: Imagine you were suddenly put in charge of Google. What would you spend your time doing? I came up with this answer (picking Navigenics because of ther profile and location) on behalf of Sergey Brin:

The whole tweetstream:

Update after a little digging: This BusinessWeek article seems to be the original “breaking news” source: Google Wants to Index Your DNA, Too/it was online at April 18, 2008, 9:33PM EST while my tweet is dated to 02:54 PM April 18, 2008 /