General introduction

Background

Since the sequencing of the human genome has been completed, the demand for genetic analysis of patients is increasing in the human health care system. Due to this, the extension of diagnostic tests for genetic diseases/disorders is urgently needed.

Unfortunately, the majority of genetic diseases is molecularly and clinically highly heterogeneous, and until recently, the available techniques lacked the required capacity to analyze several genes in parallel. This capacity problem can now, however, be overcome by a new technology called "Massively Parallel Sequencing (MPS)". This technique provides a unique oppertunity to develop new diagnostic tools for complex genetic diseases.

Project

The EU project TECHGENE focuses on the use of massively parallel sequencing techniques for the development, optimisation and implementation of diagnostic tools for genetic disorders.

It aims to extend the genetic diagnostics from the relatively simple monogenic disorders to the more complex genetically heterogeneous disorders.

To do so, a number of model disorders have been selected with increasing genetic complexity and which represent the majority of non-multifactorial genetic disorders. The model disorders selected are:

Disorders caused by a wide variety of mutations in one or two genes, e.g. hemoglobinopathies and hereditary breast cancer
Disorders caused by mutations in one or two major genes, and several minor genes, e.g.

sensory disorders, including blindness, deafness, and Usher syndrome
Disorders caused by mutations in several equally important causative genes, e.g. paraplegias and ataxias
Disorders mainly caused by rare mutations in rare genes, e.g. mental retardation

In the TECHGENE project, new massively parallel sequencing diagnostics will be developed for these model disorders and a proof-of-principle will be delivered. The model disorders can be considered as prototypes for a wider group of diseases and thus, in the near future, the tools developed will be applicable on other diseases.

European collaboration and dissemination

The described technical innovations, will be performed by a European consortium of clinical genetic diagnostic laboratories, research laboratories and industrial stakeholders. The innovations will lead to a front-running position of European laboratories and small and medium enterprises (SMEs) in this field. For European enterprises this project offers the opportunity to identify niches in the steadily increasing molecular genetic market.

In addition to technical and medical know-how, the consortium contains experts on quality management aspects, ethical and societal issues, and cost effectiveness issues. The use of this knowledge will lead to the design of ready-to-use, easy-to implement and medically relevant diagnostic tools; all the tests developed will be fully validated. The cost-effectiveness of the most promising tests will be compared with current practice. This, to establish the added value of the new tests in clinical practice.

Thus, the project brings together a network of SMEs for commercial exploitation of novel tools, experts on genetic disorders and experts in health economics, medical ethics and laboratory quality management. This integrative approach will safeguard a coherent progress of the project.

In addition, a specially designed training programme is set up during the project. This, to ensure a rapid dissemination of the acquired knowledge and tools across Europe. Special attention will be given to knowledge transfer to labs from Central and Eastern Europe.