The path towards personalised medicine

Pharmacogenetics is the theme of this month’s edition of Drug Discovery Today Editor’s Choice. This coincides with the Drug Discovery Today special issue, ‘Pharmacogenetics and Stratified Medicine’.

With nearly every pharma company facing patent cliffs and the essential need to demonstrate cost-effectiveness, there has never been a more important time for the pharma industry to exploit and embrace the opportunities offered by our greater molecular understanding of disease pathophysiology and individual genetic variation. As reflected by the downloads included in this E-choice, to realise the full potential of new science requires the collaboration between all players including, although not limited to, academia, the pharmaceutical and biotechnology industries, regulatory authorities, payors and health economics. 

The first download is an editorial by Hudson and Orviska, ‘European attitudes to gene therapy and pharmacogenetics’. In this article they compare and contrast the regulatory landscape and public perception between pharmacogenetics and gene therapy, presenting data from a survey of approximately 1000 people in each EU member country. They show the widely differing attitudes between different sectors of the community and also between pharmacogenetics and gene therapy. The latter, perhaps not surprisingly, is considered more risky and raises greater concerns. The need for public support is seen as crucial for the adoption of new technologies. Patient groups are already actively involved in this field but the authors conclude, from their study results, further action needs to be undertaken to achieve this.  

In the second download, ‘Progress towards personalized medicine’, Stewart Bates discusses the development of molecularly targeted therapies, coupled with improved diagnostic criteria and looks at what has been achieved to date, asking the question ‘how far have we come, and how close is personalised medicine to delivering on its promise?’.  Bates highlights key reports and initiatives that have been, and continue to be, influential in setting the direction and future strategy in the personalised medicine field. Oncology is used as the vanguard example where genomics and biomarkers are already being successfully applied in clinical practice and have led the way in the introduction of companion diagnostics. The impact in other disease areas is also reviewed. Although more limited in its success, growing numbers of examples are beginning to be achieved.

The US FDA has been actively involved in evaluating the potential of pharmacokinetics to improve drug efficacy and safety. In the third download, ‘Pharmacogenomic strategies in drug safety’, published in Drug Discovery Today: Therapeutic Strategies, Pacanowski and Zineh focus on its application to improve drug safety. This includes the opportunities provided to manage clinical risk, and importantly, help to understand the mechanistic basis of adverse drug effects. They also present successes and the potential of applying pharmacogenetic understanding to pharmacogenetic, pharmacodynamic and idiosyncratic adverse drug reactions.  In addition, they consider the crucially important issue of translation and propose a potential pathway for translating a biomarker from clinical need to clinical application.

The fourth download by Pacheu-Grau et al., looks at the exciting potential of mitochrondrial pharmacogenetics, ‘Mitochondrial pharmacogenetics – barcodes for antibiotic therapy’. The challenge of antibiotic development is to identify those antibiotics that cause selective toxicity to the microorganism but not in humans. Along with the exponential increase of knowledge of the human genome at the DNA level there are now thousands of published human mitochrondial RNA (mt-rRNA) sequences. The potential of applying this knowledge is exemplified by data where genetic variants within mt-rRNA might explain antibiotic sensitivity to drugs, including erythromycin, azithromycin and animoglycosides. The ‘ideal’ methodology to study the phenotypic effect of a particular mt-rRNA, is also described, transmitochondrial cell lines, a system in which all other variables remain homogeneous. Although to date only laboratory studies have been conducted, the data presented by the authors shows the potential for this approach to optimize antibiotic treatment regimens and develop new antibiotics.

Together these four articles highlight the progress made in pharmaogenetics and that indeed, although we are still at the start of realising its full potential, the promise of delivering novel, cost-effective drugs meeting patient unmet need, is already being achieved. With academia, industry, regulators, payors, health economics and the public working together, the next few years are undoubtedly going to be exciting and I envisage pharmacogenetics and personalised medicine becoming further embedded into mainstream clinical practice.


Dr Elizabeth Foot is Chief Executive Officer for London Genetics, a specialist company created to facilitate partnerships between industry and academic centres of excellence in genetics and the field of stratified medicine. She has extensive experience of medical research and clinical drug development gained within academia, UK National Health Service and 16 years working at GlaxoSmithKline. At GSK she was part of the initial strategy team developing the business strategy for pharmacogenetics and driving its worldwide implementation. She joined London Genetics in 2009. She is a Council member of the Food and Health Forum of the Royal Society of Medicine, sits on the NHS Innovation Challenge Expert panel, member of the UK Pharmacogenetics & Striatified medicine Research Network and the Scientific Advisory Committee for Ataxia UK.

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