Is 2012 the tipping point for personalised healthcare?

The trigger for the widespread and systematic deployment of personalised healthcare was pulled last month with the announcement by the US company Life Technologies of a desktop machine that can sequence an individual’s genome at a price of $1,000.

This has long been seen as the price point at which genome sequencing could start to become a regular part of healthcare, alongside measuring blood pressure and heart rate, and unlocking the door to personalised medicine.

There’s a lot still to do to shift from the old paradigm of medical practice to the new, believes Robert Wells, Head of Biotechnology Unit at the Science and Technology Policy Division of the OECD, but the field is advancing in a number of different ways. Over the past 15 years or so, “It’s gone from if to when, and how to now,” Wells told the Science|Business conference ‘Personalised Healthcare: from Theory to Practice’ held in London last month.

Science and innovation at the fore

It is important not to underestimate the importance of science and innovation in spurring change in medical practice. The rate of advance has been amazing, from the first human genome sequence - completed in 2000 - that required a multinational effort, to the desktop sequencer unveiled by Life Technologies in January that can sequence a genome in less than a day.

Genome-wide association studies comparing the DNA of people suffering from particular diseases with those who do not, have led to the discovery of multiple disease genes, providing clues to disease aetiology and potential targets for drug discovery.

“Technology has moved quickly and profoundly,” Wells said. “While what we know about the genome is still dwarfed by what we don’t know, there has been tremendous progress.”

This ability to pinpoint the genetic sources or causes of disease is being matched by advances in other fields, such as nanomedicine and synthetic biology. Alongside the convergence of medicine and biology with physics and engineering, this is raising the prospect of new and more-tailored treatments.

Inevitably, policymakers are following behind, Wells noted. However, he believes governments are actually pretty positive, and regulators in the US and Europe, “want to make [personalised healthcare] happen.”

Overall, there is an increasing level of dialogue among all the stakeholders. “This is powerful: as datapoints you don’t see [these interactions] but they are a very important part of tackling the problems of implementing personalised healthcare,” said Wells. One huge task ahead is convincing treasuries and exchequers of the return on investment.

Best practice in cancer gene testing

DNA testing is already in use in some limited and disparate applications of personalised healthcare. As an example of current best practice and a taste of what is to come, Fabien Calvo, Deputy Director General and Director of Research at the French National Cancer Institute, described France’s cancer gene testing programme, initiated in 2006. This is providing a free, nationwide system for testing for cancer genes that are linked to specific drug treatments.

The best-known example is Roche’s breast cancer drug Herceptin. “We are moving from pathology-driven to molecular biology-driven [treatment],” Calvo told delegates. The aim is to introduce DNA testing soon after any drug with a companion diagnostic is approved. Calvo noted that the high degree of centralisation in France makes it relatively easy to introduce a nationwide system for this element of personalised healthcare.

“We expect to see an increased repertoire of [genetic] tests in the future,” Calvo said. These will indicate if a patient will respond to a particular drug and allow more appropriate treatment.

Personalisation to improve treatment of heart disease

Lukasz Szumowski, Chair of the Department of Arrhythmia at the Institute of Cardiology in Warsaw, Poland, said that while clinicians may need to be convinced of the value of personalised healthcare, in his field they are well aware of the shortcomings of current diagnostic methods. “Our problem as clinicians is that things that look the same are different, and things that look different are the same,” Szumowski told the conference.

Atrial fibrillation, or irregular heartbeat, is a symptom that varies widely in its implications and for which there is a range of treatments including drugs, devices and surgery. Szumowski is coordinating a large-scale international trial called Telemarc, which is assessing the use of telemonitoring in 2,000 patients who have presented with atrial fibrillation. This involves continuous monitoring of the individual heartbeats of each patient over 13 days, providing the data on which to make a diagnosis. The high volume of data makes it possible to reach a diagnosis in 4 – 6 days compared to the current system where patients are monitored for a short time during a clinic appointment, with a diagnosis likely to take 2 – 3 months to deliver.

In one case of a patient referred for ablation surgery, “We found he really needed a pacemaker, that is [this case] went from a high-cost, high-risk procedure to a low-cost, low-risk procedure,” Szumowski said.

The aim of the Telemarc study is to show how this very personalised system of monitoring can be introduced in practice. “Implementation in real life is crucial; we hope to show it’s cost-effective,” Szumowski concluded.

Integration of experts

Introducing personalised healthcare programmes such as telemonitoring or cancer gene testing requires the interaction and integration of a number of services and experts, from basic research scientists to clinicians and those in industry, observed Elizabeth Foot, CEO of London Genetics Ltd, a company that specialises in building partnerships between academic geneticists and industry. “We are seeing that more integrated model developing,” Foot said. This high level of interaction is helping to generate the knowledge base on which personalised healthcare is being built.

As another sign that personalised healthcare is moving into the mainstream, the public funders of medical research have asked the European Science Foundation (ESF) to carry out a foresight exercise, looking at likely developments over the next 30 years, to inform decisions on which research to fund.

The multidisciplinary study covers not just life sciences, but also humanities, with policy makers and industry involved too, said Stephane Berghmans, Head of the Medical Sciences Unit at ESF. “Personalised medicine is an onion with a lot of layers,” Berghmans said. While subjects such as genomics and proteomics are key enablers, elements issues such as health economics, the role of patients, and the role of physicians must also be considered. Technology will not be the limiting factor, but it will require work on standardisation to support its widespread adoption, said Berghmans.

Now so much of the technology is in place, work is needed to showcase best practice and convince governments of the return on investment, Wells said. In addition, physicians, payers and other stakeholders need to be educated to promote adoption of personalised healthcare, he concluded.