Health advances-not so fast

A section of New York Magazine, June 16th 2008, begins with the words, ‘medicine advances at astonishing speeds’. It’s a profound statement but is it accurate? Of course it depends on what you mean by astonishing speed, but I think medicine progresses quite slowly considering the rate at which we accumulate new insights into disease and it’s potential treatments. We hypothesis and test at an alarming rate, but it can take an interminably long time for a new medicine to reach the pharmacy, or for a medical paradigm to shift. Take the Human Genome Project for example. This was a 13-year old project coordinated by the National Institutes of Health and the US dept of energy. Multiple countries participated as did the Wellcome Trust, a premier UK research foundation. Much was made of the effort which identified most of the 12-25,000 genes estimated to make up the human genome, and determined the sequence of the 3 billion chemical base bases that make up human DNA. (ref: www.ornl.gov/sci/techresources/Human_Genome/home.shtml). As it neared completion, widespread anticipation grew among the general public about the slew of medicines that would surely follow the last gene identified. We are now 5 years on and there is little to show for it in terms of medical breakthroughs. The NIH itself admits that the analyses of the data will continue for many years. The most obvious outcome to date is the availability of a relatively cheap way to get a genetic profile for those that are brave enough. Even this though, is not a definitive depiction of the future for those that take the test. Genes are rarely deterministic, depending on environmental conditions to trigger and support their directives to vulnerable cells and systems. Some companies that administer the tests also supply the putative nutritional safeguards that go along with each potential risk, playing on the fears of the patient and pocketing the rewards as a result. Not that genetic testing is bad; rather that it needs to be kept in perspective. Knowing your genetic risk can be a good thing if the risk is well characterized and there are things you can do to off-set the disease. For most genetic risks, that is not the case. Human physiology in health and disease is fascinating and complicated and inherently unique. Understanding the interactions of genes with each other and the environment in which they operate requires lengthy research and analysis. We should learn to set our expectations. Accumulation of observations is indeed fabulously fast. But translation to, and acceptance of, real benefit will always be, by comparison, painstakingly slow.

Dem old bones

Shortness is related to arthritis, the latest news tells us. Too tall, or too short, it seems we are at risk of osteoarthritis if we are anything other than average when it comes to height. The reasons are not clear but this news is quite exciting to researchers as there are so few genes for osteoarthritis, whereas there are a great many for height. Careful digging into the genetic and environmental causes of both may shed light on the increased risk. If short people get arthritis, what does this mean from an evolutionary perspective? Often, a genetic disadvantage in this day and age, may have been a significant advantage in years gone by.

I'm short, so I should perhaps be concerned. Or maybe not. I could have a gene test; a gene for Growth Differentiation Factor 5, or GDF5, has been associated with the development of cartilage, and also with arthritis susceptibility in Europeans and Asians. If I have the risk variant, what would I do about it? Nothing, because there is really nothing that can be done. I have no family history, although my son does appear to have somewhat mobile joints. Perhaps I passed a dicky gene on? To understand my genetic risk is becoming easier for bones and lots of other pending problems. Gene testing is relatively cheap and beginning to offer significant information, albeit un-validated for the most part. The HapMap, a complete map of human genetic variation, is about to be released in the journal Nature Genetics (online, Jan 13th 08). For sure, as these types of sweeping tests become more popular, doctors, diagnostics companies and drug companies will have to start coming up with ethical responses to the questions that will arise when folks begin to see they have genes rendering them susceptible to dementia, cancer and the like. How will we deal with the knowledge of the risk, with no preventatives to soothe us while we wait for the inevitable? Dangerous and heady times are ahead. But what an amazing time to be alive, and what a great opportunity for those of a business mind-set.