The opposite of precision

Russ Swan explores the much-hyped concept of personalised medicine but realises it is a long way from reality when he finds himself in need of treatment

THE irony of the situation is not lost on me. While attending a high-level scientific conference on the future of medicine, I found myself in need of some.

We’ve all heard a lot about the potential for personalised medicine, where a treatment regimen is based not just on the diagnosis of the disease or condition but also on the patient’s responsiveness to particular drugs. In this Star Trek future world, the individual’s genome will play just as big a role as the identity of the pathogen in the decision to use a particular chemical.

Promises of personalised medicine and the vast profits it would bring were intrinsic to many of the science-based start-ups in the biotech boom of the 1990s and early 21st century – in the days when investors still made investments, in other words.

But like many a promised land before it, the reality has proved to be a little less rosy than the dream. Putting to one side the present difficulty of raising finance for any medium- to long-term project (as medical developments inevitably are), the sheer complexity of the challenges faced have meant that delivery dates for tomorrow’s new genres of gene-appropriate wonder drugs have steadily been pushed backwards.

It is barely a decade since the Human Genome Project wrote out a copy of the book of life, and there remains much subtlety and enigma hidden within its three billion letters. Our twenty-odd thousand protein-coding genes are each available in multiple variations, any of which individually or in combination can have a radical effect on the body’s response to disease and disease treatments.

The enormous challenges this presents has in turn led to the growth of some remarkable new technologies. Next-generation sequencing has in the last few years drastically increased the speed at which genetic material can be studied. At the other end of the research bench, massively multiplexed diagnostics enable hundreds or even thousands of ‘what-if’ experiments to be performed simultaneously. The combination of these two could be seriously amazing.

It was the prospect of learning more about a proprietary multiplexing technology that had drawn me, along with 500 scientists, to this particular conference. The 40-odd presentations at Planet xMap ranged from the use of multiplexed arrays to tackle malaria diagnosis to the prediction of patient response to anti-thrombosis drugs based on their genotype. The common factor that linked them was their use of Luminex’s microbead-based multiplexing technology.

Rather than jumping on the ‘personalised’ medicine bandwagon, Luminex likes to refer to its systems as tools for ‘precision’ medicine. An example is the development of symptom-based panels such as those for respiratory complaints. Eschewing the century-old technique of streaking out the bugs, waiting three days, and then having a look under a microscope, the panel approach employs thousands of microbeads treated with various antigens and receptors to rapidly identify which of many potential pathogens are present in a sample. None of which was of any use to me when a missed footing sent me tumbling onto an unyielding pavement at the posh resort where the conference was based. Being a bloke, I didn’t seek medical attention for the pain in my arm. It will probably get better by itself, I thought, as we blokes do.

A contrary view was expressed, quite forcibly, when I got home at the end of the conference. It took mere hours for my local teaching hospital to arrange an X-ray which revealed the fracture I had by now expected to see. Three days, two flights, and a 60-mile drive after taking a tumble, I might now expect some personalised medicine of my own. Alas, it turns out that my first blokeish instinct was right after all. This particular injury, I was told, is best left to its own devices. No cast, no splint, no screws, and no particular drugs except standard over-the-counter painkillers. The nurse gave me a sling, which the doctor promptly took away, describing it as “the devil’s work”. Precision medicine? If the conference was absorbed in what we might call medicine 2.0, and standard modern healthcare is medicine 1.0, this was medicine 0.0. This was positively paleolithic, and my disappointment must have been obvious.

“There is a significant amount of pain”, I said, as casually as I could. One doesn’t like to appear soft in front of a doctor. “Yes”, he agreed, somewhat more cheerfully than was necessary. “But it will get better.” “All by itself?” “All by itself.”