direct-to-consumer genetic testing

The UK House of Lords Science and Technology Committee has published the long-awaited report (PDF) from its inquiry into genomic medicine. Mark Henderson at The Times has been busy today, putting out three excellent pieces on the report: a summary of the major implications, an opinion piece pushing the need for the health service to respond quickly to the arrival of genomic medicine, and a lengthy blog post praising the report and providing his views in more detail.  I find little to disagree with in Henderson's coverage, and certainly agree with his overall opinion of the report: this…
GenomeWeb reports that the advocacy group Genetic Alliance is lobbying the FDA for the construction of a public registry of genetic tests: [Genetic Alliance Director of Genetics and Health Policy Kristi] Zonno said FDA should create a public registry for genetic tests to "enable transparency and promote informed decision making for consumers and providers." She said that registry "could and should include the myriad of genetic, genomic, and pharmacogenomic testing available to the US market." Open to the public, the registry should at the very least include the name of the lab performing a…
Update: In the comments below, SNPedia co-founder Michael Cariaso notes that Duncan has already lost his crown to the anonymous European NA07022, recently sequenced by Complete Genomics, who weighs in with 5891 associations to Duncan's 5321. Records don't last long in the age of high-throughput genomics! Author David Ewing Duncan now officially has the most annotated genome of any human being; but given that the majority of those annotations are wrong and most of the remainder only weakly predictive, he's also a powerful illustration of how far we still have to go before the era of personal…
Harvard biostatistician Peter Kraft (co-author of an excellent recent article on genetic risk prediction in the New England Journal of Medicine) has just added an interesting comment on his experience of this week's Consumer Genetics Show: I just wanted to share what for me were two stand-out moments at the CGS. First was Zak Kohane's discussion of the "Incidentalome"--a great turn of phrase that captures something I've been mulling over myself. (A less eloquent statement of this idea made it into the recent Nick Wade NYT article on genetic risk prediction). Basically, the idea is that even…
From Emily Singer's article yesterday in Technology Review: A number of companies offering direct-to-consumer genetic testing have cropped up in the past two years to capitalize on these advances, from 23andMe and Navigenics, which offer genome-wide scans to identify specific disease-linked genetic variations, to Knome, which offers whole-genome sequencing to the wealthy. Any doubts that personal genomics is making its way into the mainstream can be assuaged with a look at Interleukin genetics, a startup that sells genetic tests for heart-disease risk, B vitamin metabolism, and other factors…
Not my highlights, sadly - I would have loved to attend the Consumer Genetics Show but was curiously unable to get anyone to pay for my plane tickets... Fortunately for me, others have done a sterling job of covering day one of the meeting. The freshest coverage by far is coming in 140-character bursts from Dan Vorhaus and Emily Singer, who are both live-tweeting the conference with gusto (for Twitter afficianados, commentary on the meeting is being aggregated with the hash-tag #CGS). Emily Singer also has an overview piece in MIT Technology Review with the promise of more to come. Meanwhile…
A reader has pointed me to the latest issue of the American Journal of Bioethics, which is devoted to social networking and personal genomics. I'm still working my way through the many interesting articles, but for now I wanted to cover some useful points in the editorial (entitled "A Pragmatic Consideration of Ethical Issues Relating to Personal Genomics"), which was written by a series of big names from personal genomics company 23andMe, including both co-founders. The article is designed to address some of the more popular misconceptions surrounding personal genomics; here's a quick run-…
The auction of a whole-genome sequencing service that I scoffed at a few days ago is now live on eBay - serious bidders only, please, and bids start at $68,000. Here's what you get for your suitcase of cash: Personal whole genome sequencing and comprehensive interpretation of your genome. Knome's proprietary KnomeXplorer⢠genome browser software to navigate and explore your own genome. Two years of Knome's update service allowing you to remain current on the latest cutting-edge genetics research. A digital copy of your whole genome sequence on Knome's security encrypted GenomeKey [an…
Associated Press reports that Germany will likely soon pass regressive laws limiting the use of genetic testing: The German parliament approved legislation Friday limiting the use of genetic testing in an effort to prevent the technology's abuse. The law, which was debated for more than seven years, must still go before the upper house of parliament, but it is not expected to meet any resistance. Under the law, genetic tests can only be carried out by a doctor and require the full consent of all parties involved. That makes it illegal to conduct anonymous paternity tests and anyone found in…
OK, so this GenomeWeb Daily News article is approximately four centuries old in internet time (i.e. around a week), but it's worth going back and reading. I've previously argued at length that although personal genomics currently offers little in the way of useful, predictive health information, that lack of information in itself represents an important opportunity to educate consumers about the fuzzy nature of common disease genetics. So long as personal genomics companies represent the data accurately (which the major reputable companies currently do quite well, by and large), their…
Genetic genealogist Blaine Bettinger explores the results of his ancestry testing from 23andMe, and compares it to previous results from a much lower-resolution test. The main message: the hundreds of thousands of genetic markers used by 23andMe (and other personal genomics companies, e.g. deCODEme) to infer genetic ancestry  provide a much more detailed and accurate picture of the geographical origins of your genome. No surprises here. The power of the type of genome-wide genotype data generated by 23andMe for ancestry prediction has been compellingly illustrated by a series of recent…
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…
I'm slowly catching up on genomics news from the last week - this story in particular has been getting a lot of press. The executive summary: Jay Flatley, CEO of genomic technology manufacturer Illumina, predicts that whole-genome sequencing of newborns will become routine within a decade. Flatley has an obvious financial interest in this prediction coming true, since Illumina provides the most commercially successful next-generation sequencing platform currently on the market, the Genome Analyzer, and has recently invested heavily in emerging "third-generation" sequencing technologies (by…
Helix Health's Steve Murphy rather breathlessly announces the launch of the Coriell Personalized Medicine Collaborative website (for the uninitiated: you can tell Steve is really excited when he uses five exclamation marks at the end of a sentence rather than four.) To be fair, it is big news. Coriell is offering a free service - a full genome scan, plus a genetic health report and genetic counselling - that would cost you at least $500 from Navigenics. The pay-off to them is a massive database to mine for new gene-disease associations and information about patient responses to genetic…
Francis Collins, former Director of the National Human Genome Research Institute, in a presentation last week (as reported by GenomeWeb Daily News): He also said that he is "delighted" that direct-to-consumer genetic testing services are being offered, even though the field "has become a favorite whipping boy for some of us." He said it is good "that the public is having the chance to learn about their genomes if they think they want to know ... and that companies are doing this in a responsible way. But, of course, there are some things on the web that are not responsible." In addition,…
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…
New Scientist has an investigation into companies offering surreptitious genetic testing - basically, providing analysis of DNA samples obtained without permission from others. Currently popular uses are searching for evidence of non-paternity or infidelity (by testing underwear for strange DNA), but obviously the potential exists to also look for markers of potential disease risk, a la Gattaca - an attractive prospect for employers, insurers, or those hunting for the flaw-free spouse. Human nature being what it is, there's little doubt that a considerable market for non-consensual genetic…
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…