Medicine and healthcare are in the midst of previously unfathomable changes. It is clear that we are moving towards an era of ‘proactive genomics.’ As the costs of sequencing a human genome fall, more and more private clinics and companies will offer ‘personalised medicine.’ From the standpoint of developing ever more sophisticated methods in healthcare, personalised medicine is an exciting prospect. Thus far, however, we are seeing unsubstantiated promises about a science that is still in its infancy.
Genomic sequencing enables physicians to identify an individual’s predisposition to disease and potentially predict how a given patient might respond to a particular drug. It may also go some way in eliminating unnecessary treatments and reduce the possibility of adverse reactions to drugs and thus increase the efficacy of treatments. The continual development of new, faster and cheaper DNA sequencing technologies such as ‘next generation DNA sequencing’ is making it easier for more companies to offer personalised medicine at attractive rates. According to PricewaterhouseCoopers, the $232 Billion, Personalized Medicine Market, is set to Grow 11 percent annually. It is estimated that the market for a more personalized approach to health and wellness will grow to as much as $452 billion by 2015.
There are a number of companies that offer personalised medicine and genome analysis. 23andMe, for example, sells mail order kits for SNP genotyping at £50 for the kit and a £5.00 per month subscription. Alternatively, it is a flat fee of or £200 without a subscription. The consumer mails the sample to 23andMe for analysis of genetic risk for 178 diseases and conditions, in addition to ancestry analysis. A more up-market service is provided by DeCODEme.com and charges £700 to carry out genotyping of approximately 1 million SNPs and provides risk estimates for 47 diseases as well as ancestry analyses. Lastly, Navigenics offer SNP genomic risk assessments, and charge a higher fee as they place a greater emphasis upon a clinician and genetic counsellor’s role in interpreting the results.
However, the jury is still out on direct to consumer personalised genetic tests. A recent article published in the Journal of Genetic Counseling highlights their current failings:’
“A major limitation of DTC testing is the incomplete view it provides regarding lifetime risk for common, complex diseases, since most tests only analyze 1–2 single nucleotide polymorphisms (SNPs) and do not include evaluation of medical or family histories, which is necessary to risk assessment”
Moreover, “it is not currently well-established whether personal genomic testing results will lead toward improved health behaviors, adverse psychological effects or potential overuse of the health care system.”
A rather damning enquiry concerning ‘Direct-To-Consumer Genetic Testing and the Consequences to the Public Health’ was conducted by the Congress of the United States, Committee on Energy and Commerce. In the final report, it was argued that:
“The problem with these marketing practices is that it is not clear today whether the exciting scientific developments in human genetics research actually transfer into ways to improve and individualize medical care.” Furthermore, “the science informs us that there is no widely accepted consensus linking genetic markers to specific illnesses.” “While understanding human DNA may someday help us cure hundreds of serious illnesses, companies need to be careful that they are not overstating what they have to offer the public.”
The Committee, in its investigation, reviewed over 450,000 documents. They found:
“Questionable marketing claims, serious quality control and privacy concerns, and questions about the accuracy of information provided to consumers.”
The report recommended that the government must ensure that “the public is protected against exaggerated claims, abusive marketing, and practices that threaten individual health and safety.”
The US accountability Office also investigated companies selling direct-to-consumer genetic tests. The verdict was similarly sceptical. They concluded that “these companies made medically unproven disease predictions.” And found “10 egregious examples of deceptive marketing, including claims made by four companies that a consumer's DNA could be used to create a personalized supplement to cure diseases. Two of these companies further stated that their supplements could ‘repair damaged DNA’ or cure disease, even though experts confirmed there is no scientific basis for such claims.
When we turn to the websites of the main providers of DTC genetic tests, it is clear that some of the claims that are made are insubstantial at best. 23andMe states: “Let your DNA help you plan for your future,” “Take charge of your health” and “Live well at any age.” On its website, Pathway Genomics states that “knowing how your genes may affect your response to certain drugs may improve the quality of your life.” Moreover, DeCODE Me states that ‘Your genes are a road map to better health’ – and lastly, "calculate genetic risk - Empower prevention."
Perhaps it is worth waiting for ‘personalised genetic tests’ to evolve before giving them serious consideration. Indeed, out of curiosity, one might choose to take a DTC genetic test - but not in the hope that it will “help you plan for the important things in life.”