Roche Diagnostics and deCODE genetics announced the achievement by deCODE of two milestones under the companies’ alliance to develop DNA-based diagnostic tests. Scientists at deCODE’s pharmacogenomics and clinical trials subsidiary Encode have developed gene expression assays that can predict responsiveness to common treatments for asthma and hypertension. In the Icelandic cohorts studied, the research assays predicted, with an average accuracy of 85 per cent, which patients would or would not respond to leading classes of drugs used to treat these diseases. The companies are working together to validate these findings and to turn these assays into novel diagnostic tests. Such tests could provide physicians and their patients with information that can be used to select individualized treatment options. deCODE receives milestone payments for these discoveries.

Through in vitro analysis of gene expression in peripheral blood mononuclear cells (PBMCs) taken from patients who are responders or non-responders to a given class of drug, Encode identified genes whose expression levels accurately predict whether the class of drug works well for individual patients. In asthma, Encode analyzed gene expression profiles from several hundred responders and non-responders to the largest classes of therapeutic drugs: corticosteroids and leukotrine inhibitors. In hypertension, Encode enrolled several hundred patients to generate expression profiles for responsiveness to representative drugs from the leading classes of drugs used to lower blood pressure: angiotensin II inhibitors, calcium channel blockers, and ACE inhibitors. For each class of drugs in both diseases, Encode identified fewer than a dozen genes the expression of which yielded an 85 per cent accurate prediction of responsiveness.

“This is a very important and exciting discovery and underscores the value of our pioneering approach to improving patient outcomes by marrying knowledge of the genetic basis of disease and response to therapy,” said Heino von Prondzynski, Head of Roche Diagnostics and Member of the Roche Executive Committee. “ We are committed to using our leading position in diagnostics to create new tools to help physicians fulfill the promise of personalized healthcare.”

“Pharmacogenomic tests such as these will be an important means of applying advances in genetics to improve and personalize healthcare. Even the best drugs do not work for everyone, and many good drugs have side effects. Through the development of tests based on these findings, we can determine which drugs are best suited to individuals, thereby optimizing therapeutic impact and sparing patients unnecessary side effects that can result from prescribing drugs through trial and error,” said Dr. Kari Stefansson, CEO of deCODE. “In so doing, we may be able not only to make medicines more beneficial to patients, but also to enable pharmaceutical companies to develop new drugs more efficiently and to maximize the value of their products in highly competitive marketplaces.”