personal genomics

A reader pointed me to this article on the collaborative research project between personal genomics company Navigenics and the Scripps Translational Science Institute. The project aimed to recruit 10,000 people from among employees and patients of Scripps Health and their family and friends. Recruits will receive data from a Navigenics genome scan at a subsidised price of $470, compared to the normal commercial price of $2,500. The bad news: despite the dramatic price reduction, the project has only succeeded in recruiting 4,000 participants - just 40% of the original goal. Recruitment ends…
Icelandic genomics company deCODE Genetics has received a license to market direct-to-consumer genetic tests (such as the genome scan provided by daughter company deCODEme) in the state of California. This follows the regulatory crackdown by California's public health department last June, which sent nervous ripples through the direct-to-consumer genetic testing industry. Personal genomics rivals 23andMe and Navigenics both received their own licenses last August, and it's unclear to me why it's taken so long for deCODEme to follow suit (please feel free to speculate wildly in the comments…
Steve Murphy is up in arms about a recent email from 23andMe to its customers advertising the use of genetic variants on its V2 chip to predict individual risk of statin-induced myopathy and breast cancer. Of course, Steve does have a strong financial interest in 23andMe staying as far away as possible from the area of clinical diagnostics, but I share his unease here. So far personal genomics companies have by and large done their best to steer clear of being seen as "doing medicine", but this move would seem to put 23andMe explicitly over that line. In the case of the breast cancer…
Nearly five months after 23andMe dropped the price of its genome scan service from $1000 to $400, personal genomics competitor Navigenics has made its own foray into the lower-cost genetic testing market. Navigenics has always been the most expensive of the three mainstream genome-scan companies, despite offering essentially the same product as competitors 23andMe and deCODEme: a genome scan examining between 500,000 and a million sites of common genetic variation, known as SNPs. While its competitors charge a one-off fee of $400 (23andMe) or $1,000 (deCODEme), Navigenics whacks its customers…
Misha Angrist passes on a call from Case Western University for personal genomics customers to participate in a study of the experience of getting your genome scanned. If you've paid money to 23andMe, deCODEme or Navigenics, consider getting involved - Misha assures us that the process was relatively painless. By the way, if you happen to be that most elusive of creatures - a happy customer of Navigenics - Drew Yates has been waiting to hear from you for a long time. Subscribe to Genetic Future.
Welcome to the 42nd edition of Gene Genie, the blog carnival of clinical genetics and personalised medicine. Most of the entries in this edition fall under the broad umbrella of personalised genetics, with posts emphasising both the pros and cons of the emerging consumer genetic testing industry. The promise and perils of personalised genetics Hsien-Hsien Li from Eye on DNA warned about the potential dangers of pressuring kids to compete in athletic events based on genetic testing results, citing the suicide of a 15-year-old Singaporean boy. Alberto from Medical Pills used Hsien's post as a…
Well, it's a little late, but I finally have a list of what I see as some of the major trends that will play out in the human genomics field in 2009 - both in terms of research outcomes, and shifts in the rapidly-evolving consumer genomics industry. For genetics-savvy readers a lot of these predictions may seem, well, predictable, so I want to emphasise that my purpose here is not really to make risky forecasts; I'm more interested in laying out what I see as the major big picture trends for the year to come, with a few specific predictions about unknowns thrown in. In any case (as you will…
Following the dramatic appearance of the field of personal genomics just over a year ago the major players in the field have worked hard to distinguish themselves from their competition: 23andMe has emphasised the intellectual joy of learning about genetics, and also attempted to actively engage its customers in the company's research projects; deCODEme has leaned heavily on the impressive academic credentials of its parent company, deCODE Genetics; Navigenics has committed itself utterly to an image of sober, responsible reflection on the medical information present in its customers' genomes…
Steven Pinker's recent article in the NY Times is a rich source of insight into the field of personal genomics and the experience of personal genomics customers - if you haven't read it already, you really should. This paragraph, for instance, seems to perfectly encapsulate the experience of the average intellectually curious personal genomics customer: It became all the more confusing when I browsed for genes beyond those on the summary page. Both the P.G.P. and the genome browser turned up studies that linked various of my genes to an elevated risk of prostate cancer, deflating my initial…
I'll hopefully have more to say about Steven Pinker's long and excellent essay in the NY Times later - but for now, go read it yourself, and then read John Hawks' thoughtful comments.
Nature has a list of the top news stories of 2008, and "Personal genomics goes mainstream" comes up second: In January, an international consortium announced the launch of the 1,000 Genomes Project, which aims to provide a catalogue of human genetic variation. In October, the Personal Genome Project, which hopes to sequence and publish the genomes of as many people as possible, released initial data for ten participants. Meanwhile, as researchers wondered what they could glean from the results coming from personal-genomics companies, the prices of such services dropped. The firm 23andMe,…
Pharmacogenomics Reporter has a fascinating article (subscription only, I think) on the impact of individual gene patents granted by the US patenting system on the future of personal genomics. Essentially, the issue for companies conducting genome-wide analysis (including SNP chips or whole-genome sequencing) is that setting up licensing deals for each individual gene makes business complex and expensive - potentially discouraging investment in the field. On their website, personal genomics company Navigenics explains the problem: For example, if we obtain licenses from third parties to 10…
Personal genomics company 23andMe is now offering a discount of $200 for customers who buy three or more kits before December 31st. In a press release the company explains the reasoning behind the price cut: By offering this discount, 23andMe hopes to encourage families, in particular, to explore the unique features of the 23andMe Personal Genome Service⢠that are of special interest to people who are related. These features allow family members to learn how genetically similar they are and how genes were passed down from grandparents to grandchildren. Still unconvinced? Just imagine the…
Think Gene's Andrew Yates has posted generic responses for medical professionals to use when dealing with patients who come armed with their results from 23andMe or Navigenics. They're probably quite useful little tools for busy doctors without the time to brush up on the field of personal genomics, but - seeing as this is Andrew Yates - they're also a dig at the careful "medicine but not medicine" stance of personal genomics companies. An excerpt: Thus, applying 23andMe to your health care would be a violation of the 23andMe terms of service and, as stated, it "cannot be relied upon at this…
Pharmacogenomics Reporter (subscription required) describes an intriguing twist in the ongoing struggle between the nascent personal genomics industry and regulatory bodies: apparently the FDA is exploring the possibility of collaborating with consumer genomics providers to track adverse drug reactions: Lawrence Lesko, director of FDA's Office of Clinical Pharmacology, said the agency has already begun preliminary discussions with some undisclosed personal genomics firms "to evaluate the feasibility" of forging such alliances. In marketing ancestry and disease-predisposition genetic testing…
Genome Web's Daily Scan noted an interesting blog post today from John D. Halamka, one of the people to get his genome sequenced through the personal genome project. I was interested to see his post since Genome Web wrote that he was discussing data standards and we have been writing quite a bit, ourselves, about data measurements for Next Gen sequencing (e.g. Next Gen-Omics) on our company blog, FinchTalk. But Halamka didn't write about standards for data. He wrote about standards for metadata, like family histories, and the things that are done with data after it's been collected. All of…
Masha Gessen was faced with a terrifying choice: cut off her breasts, and possibly save herself from cancer, or use them to feed her child. It was late at night when I walked back to my empty dorm room at the conference. Shivering, I stood on the narrow bed, quickly shut the windows, tore the blankets off the other bed, and wrapped myself up, trying to get warm. Too cold to sleep, I picked up my copy of Masha Gessen's "Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene," expecting boredom to lull me into unconsiousness…
Reports in Australian papers the Age and the Brisbane Times note the impending arrival of a newcomer to the personal genomics scene: Lumigenix, a home-grown offering cooked up by Sydney entrepreneur Romain Bonjean. The new arrival will face several major obstacles to establishing itself in the market. Firstly, 23andMe has been offering its well-established and well-publicised service in Australia since October 3rd (announced on Twitter). There's no obvious home-ground advantage for an industry where the service requires only a postal address and an internet connection, so Lumigenix will…
deCODE CEO Kari Stefansson on the recent award of Time magazine's "Invention of the Year" to personal genomics competitor 23andMe: Despite the fact that we launched our test first - so we basically invented this, and also 23andMe is using a substantial number of sequence variants that we discovered. So we feel flattered by the fact that our test was selected as the invention of the year by Time magazine. We are amused by the fact that they decided to ascribe the invention to 23andMe, probably because its founder is associated with the rich and famous. From an article in Bio-IT World on deCODE…
In addition to the African and Asian genome studies I discussed in my last post, Nature's latest issue is completely dominated by the topic of personal genomics. Erika Check Hayden has a nice piece on methods to squeeze the most out of your own personal genomic data, including a profile of the Promethease analysis tool developed by SNPedia's Mike Cariaso and Greg Lennon, which allows personal genomics customers to match their own genetic data against the SNPedia database. Hayden also gives me my first ever mention in Nature - unfortunately, it's in the context of the unflattering comments I…