I watched an interesting Marketplace ("The Gene Genie') this morning about the burgeoning presence of the term "personalised medicine" not only in our daily lexicon, but also in the marketplace itself, with an increasing number of companies offering us the ability to have predictive genotyping performed using our DNA. While this is a remarkable advance from even the fairly recent appearance of the $1000 genome, what is not clear is whether it is really a useful tool - not least because the data is of such a sophisticated nature that your own doctor is probably incapable of drawing any conclusions from it!
The most prevalent of such "DNA kit" companies, and one which recently crept north into Canada, is 23andme, who currently offer the opportunity to view your inherited risk factors for up to 100 health conditions, predict how you may respond to certain medications, and also examine your lineage - all for the apparently low sum of $199 - though in the USA it's half that price at $99! I didn't realise that $1 US is now worth $2 CDN?! There is a key disclaimer included that states that such tests are for "informational purposes only" and are not diagnostic data, but it seems that it doesn't deter people from the thrill of peering into their own chromosomes, or risking the white knuckle-tinged fear resulting from finding out you are 65% likely to have heart disease.
The guinea pig in the program, Bryce Sage, was subject to tests from various companies - some requiring just saliva, and others requiring blood samples - and given the history of cancer (both sides of the family), CNS disease and depression in his ancestry, he anxiously waited a month for all the results to come in. A deeper dig into his bloodline revealed that a slew of medical indications were possible via his genetics, and this included not only cancer and depression, but also diabetes, obesity, spina bifida, osteoarthritis, cervical dystonia and psoriasis.
His first results came in from EasyDNA, whose Canadian website was down, rather ironically, as of this morning, He seemed quite perturbed by the first set of results, particularly by his apparent high risk of prostate cancer, and so he delved somewhat tremulously into the other test results. First up was Viaguard, which right from the get-go caused some frustration in that their Accu-Metrics testing did not bring up prostate cancer as a major potential issue. The two tests also differed by a whopping 20% risk in terms of coronary heart disease, which seems inexplicable and certainly perplexed both the individual and the show's host.
Next up was 23andme, which caused Bryce Sage to face his worst fears in that there were 3 locked reports involving both Alzheimer's and Parkinson's diseases as well as breast cancer. This made some sense in that his mother has had breast cancer and his grandmother suffered from dementia, and so it struck very close to home in his case. Additionally, he personally has a particular fear of CNS disease and dementia. The relief in his demeanour when the unlocked report showed that he had none of the genetic mutations thus far identified for susceptibility to Parkinson's disease was striking, demonstrating one potential upside to such testing. But what if the result had been the opposite?!
Another company involved in the endeavour was Holistic Health International which seemed to create further confusion in that their results were apparently impossible to interpret yet did come with a panoply of supplements which were recommended for him to take, and, no surprise, that company can also supply those supplements. One can easily imagine how vulnerable individuals could be fooled into forking out more cash so as to best insure themselves against future disease, with little or no science backing up that hope.
Some cautionary words were brought into the equation by Dr. Fritz Roth of the University of Toronto, who stated that "there are no diseases that are completely genetic", and that there are no industry standards even for the terms "high, medium or low risk" that are used to gauge a person's risk for a given disease. He emphasised that mutations are just that, mutations, and the inference of such mutations as likely disease-inducers is far from hard science, and may even be simply guesswork. We are genetics-driven, yes, but it is also our environment and lifestyle that can play a major part in the capacity of a given mutation to be the source of a life-threatening disease, in other words.
Given the confusion and frustrations evident from the confounding differences in results obtained from the various companies, Marketplace decided to visit the Silicon Valley HQ of the most pre-eminent - 23andme - whose neighbours include Google, EBay and PayPal. Lofty company indeed. Marketplace spoke with Emily Drabant Conley, Director of Business Development (and apparently also their senior research scientist?) at 23andme, whose answers to the questions tabled sounded more like corporate babble than anything remotely helpful or illuminating. In fact, Ms. Conley is not listed on 23andme's website under either "leadership" or "research team", which may explain that. Hopefully host Erica Johnson was able to visit local wine country after her visit to 23andme, to justify that cross-continent flight to California!
Apart from confusing or confounding results from DNA kits, another downside to people ordering their own DNA kits is the privacy issue. Rather surprisingly, there is actually no law protecting an individual's privacy over their genetic testing information, and it can be asked for not only in legal settings, but also by insurance companies and even employers, for example. They are perfectly within their rights to ask you if you have ever had genetic testing, and if so, to share the results.
In fact, the lack of legislative protection in Canada over such matters has attracted the attention of lawmakers in Ottawa, and Senator James Cowan is extremely concerned about the lack of privacy laws protecting the rights of individuals in this regard, and how best to maintain genetic background and testing as a totally private matter. To wit, he has introduced a Bill (S-201) designed to do just that, and keep the information obtained by individuals such as Bryce Sage away from prying eyes.
Whether Bryce Sage is anymore sage when it comes to his genetics and predisposition to certain diseases is far from clear, but he did seem relieved to apparently not be prone to CNS disease. But whether these kits and such genetic testing really represent an advance in personalised medicine - or is merely another cute Silicon Valley-housed website and app designed to print money - remains to be seen. In fact, they have the potential to raise fears way more than assuage them, in my opinion.
But given how important environment and lifestyle are to our disease profile, and the proven antioxidant properties of that tasty little molecule known as caffeine, I am pulling on a fleece, and going out onto a sunny Autumnal terrace for a warming mug of my newly sourced Madagascar Morning Magic - it's simply delicious! :)
No comments:
Post a Comment