Pharmaceutical Technology Europe - April 2010 - (Page 8)

The hype, hope and reality of pharmacogenetic tests Pharmacogenetics is the study of human genetic variation that influences the inter-individual response to drug therapy and was initially recognised more than 50 years ago. Presently, few pharmacogenetic tests have been validated; however there is much expectation. articles, which may fuel expectations in this field. • There was a lack of focussed research on any particular gene-drug combination with a mile-wide inch deep focus (common to other biomarkers). • Many of the >500 genes had only one study with a small number of participants, meaning the synthesis of meta-analyses was hindered. This would also hamper the summation of data to robust findings. • The predominance of nominally significant P values suggested the presence of reporting bias. • Most studies investigated the intended outcomes of drugs rather than adverse reactions — it is this latter end-point in which pharmacogenetics is most likely to come to fruition. • The alleles investigated were common, which means the expected effect size on response to drug would be small, translating to lower impact. • The outcomes of the studies were most often surrogate markers of the more clinically meaningful hard end-points, muddying the translation of research findings. • Individuals were most often from European populations, meaning that findings may not be applicable to individuals of differing ancestry because of the inheritance pattern of genetic markers, which differs across populations of non-similar ancestry. Several of the above issues — particularly the small sample size and reporting bias — could be helped if guidance was developed for publishing pharmacogenetic research, such as those for the reporting of gene association studies (STREGA). PTE Unfulfilled promises To try to understand why only a handful of pharmacogenetic tests are presently in use despite the hype and hope, we performed a systematic review of pharmacogenetics and identified more than 1600 primary research articles over more than 20 years. We found several reasons that could account for the unfulfilled promise of pharmacogenetics: • There were 25 times more review articles than primary research Based on contributions by Michael Holmes, Aroon Hingorani and Juan Casas from the University College London and London School of Hygiene and Tropical Medicine (UK). To read the full version of this article where the authors offer a few words of advice to help guide future research regarding pharmacogenetics, go to www.pharmtech.com/holmes www.ucl.ac.uk www.lshtm.ac.uk 1 CONTENTS 9 THE HUMAN GENOME 2 INTRODUCTION 11 CANCER THERAPY UPDATE 5 MORE THAN SCIENCE NEEDED 14 MANUFACTURING CHALLENGES 7 FUTURE SNP MARKET 16 TOP TECHNOLOGIES http://www.pharmtech.com/holmes http://www.ucl.ac.uk http://www.lshtm.ac.uk

Table of Contents for the Digital Edition of Pharmaceutical Technology Europe - April 2010

Pharmaceutical Technology Europe - April 2010
Table of Contents
Why Personalised Medicine Business Models will Require Long-Term Strategies and Great Flexibility in Order to be Successful
Science Alone Will Not Lead to Better Medicines
The Current and Future Market for SNPs
The Hype, Hope and Reality of Pharmacogenetic Tests
Unraveling the Human Genome
Progress in Molecular Diagnostics
Personalising Cancer Therapy
T Cells for Patient-Specific Cancer Treatments
Future Research Strategies for Glucocorticoid Therapy
Overcoming Manufacturing and Financial Challenges of Personalised Cell Therapies
Public-Private Partnerships Prosper
Eight Latest Technologies Showcased

Pharmaceutical Technology Europe - April 2010