Not all genetic tests are created equal
Here are a few thoughts on Nic Fleming’s piece on personal genome scans, of which one was our own, deCODEme:
Our genomes are all remarkably similar. And so it is the differences that are most interesting and important, and that make us who we are.
The same can be said of genetic testing services. We at deCODE were not at all surprised that Mr. Fleming found that he got some varying results from the three genome scans that he tried. Indeed we would be surprised (and more than a little dismayed) if he hadn’t. Analyzing the genome – accurately detecting which genetic markers individuals have at specific points in the genome, and correlating these variations with risk of a range of common diseases – has been our bread and butter for well over a decade. With the analysis of hundreds of thousands of genomes under our belt, we can say with some authority that it is not a trivial business. We would never ourselves rely on consultants to tell us what variants to look for, what they mean, or to oversee the genotypic analysis itself. And we certainly would not offer such treatment to doctors or members of the public.
That said, it would be a strange logic that therefore suggests that the whole field, or the very well validated science that now exists linking specific markers to risk of common diseases, should be lumped in together as though all are nothing but dot-com storefronts selling DNA analysis today where they might have been selling sofas last year. deCODEme or our diagnostic tests, for example, only detect risk variants that meet exacting criteria: they must have been published in peer-reviewed scientific journals and replicated in large cohorts from several populations. Many genetic risk factors for common diseases have passed this high bar, and have thus been as well validated, as most non-genetic risk factors were when they were first brought into clinical use. As Mr. Fleming notes, there are physicians who are incorporating genetic risk factors into their clinical practice and with some important successes that individuals have been willing to share with the world. (We are posting some of these stories on this blog and on the personal stories page of deCODEme).
So, as suggested by Mr. Fleming’s piece and by Lord Taverne and others he interviewed, it is of pressing importance to establish high scientific and technical standards and regulations for such tests. We therefore hope that the Human Genetics Commission, and other oversight bodies in Europe, the US, and elsewhere will continue to scrutinize how best to provide an effective sheriff for this new territory. Doing so will enable individuals and the healthcare system to take full benefit from the potential of this new technology, while protecting the public from unscrupulous cowboys. At the least – since some people like cavorting with fun-loving bandit types – everyone would know who was who.
Edward Farmer
Chief Communications Officer
deCODE genetics
I am interested to know what is decodeme reaction to 23andme 70% reduction of test price ?
Thank you.
Leon
12 Sep 08 at 4:42 pm
Dear Leon
Thank you for your email and your interest in our services.
Regarding your question: “I am interested to know what is decodeme reaction to 23andme 70% reduction of test price ? ”
deCODE is focused on providing the best, not the cheapest, personal genome scan and genetic tests for risk of common diseases on the market. Others may offer less for less, or less for more, or may simply not be focused on medical-quality testing at all, but our goal remains is to provide the best science, service and results available.
We will continue to offer the 1million Illumina chip to our customers, thereby ensuring that we can continue to provide the most accurate and fastest updates to our customers as future discoveries are made. Most importantly deCODE will continue to offer what we believe is a product of unsurpassed quality and reliability by being in control of the whole process from discovery to result reporting and customer counselling.
The impact on quality of our commitment to high-density genotyping and in-house sceintific leadership can be seen in a recent comparison of the deCODEme results to the 23andme results (see TIMES ONLINE on this blog) for same conditions. For example for breast cancer deCODEme looks at 8 genetic markers, while 23 and me uses just 2. More broadly, we believe that our scientists and statisticians, who discovered these and many other of the variants analyzed in deCODEme, are better qualified than anyone in the field for setting the analytical standards for the statistical calculations and significance validation of the deCODEme results.
deCODEme is constantly looking out for ways to optimize the quality and reliability of our results. In contrast to many other companies, we seek to ensure that our services are certified by relevant regulatory bodies as fully accredited medical tests, so that our customers will be able to order through and review with their physicians if they wish to.
For individuals, we are increasing our customer service and counselling services in line with the growing number customers and of medically relevant discoveries by deCODE that are being integrated into deCODEme.
Indeed, in our blog post this week we underscore the fact that we aim to continue to offer the gold standard in testing for genetic risk factors for common diseases. As far as price goes, in this field as in so many others you get what you pay for.
Kristleifur Kristjansson
VP of Medical Affairs
deCODE genetics
kristleifur
17 Sep 08 at 3:39 pm
Predicting likelihood of developing a disease is great, but when can consumers expect Decode to market tests for predicting drug safety and efficacy for treatments of various conditions? For instance, Myriad Genetics offers a test to predict toxicity to 5-FU capecitebine chemotherapy. Can we expect similar products from Decode to be rolled out in the not-too-distant future?
Jim
18 Sep 08 at 1:56 am