Project leader: Chris Mattocks

Increasingly, research is uncovering the genetic causes of multi-factorial diseases and homogeneous syndromes where many genes may be implicated. Implementation of diagnostic tests for such disorders will demand ever increasing capacity to sequence multiple genes for each referral. The new, or “next”, generation sequencing technologies can deliver capacities several orders of magnitude greater than is possible by capillary sequencing. Whilst application of these technologies has mainly focused on large scale, genome wide, research applications, they have potential profoundly impact on the scope and scale of genetic diagnostics. However, significant innovations are required to utilise these generic technologies in the diagnostic setting, primarily:

• The ability to target regions / gene of clinical interest
• The ability to ID tag samples to enable multiple tests to run in parallel
• IT infrastructure and knowledge to enable analysis of the data

This project is focused on development of sample/library preparation methodologies that will be suitable for diagnostic application over the short to medium term. This involves both technical aspects and suitable models for service delivery. We are collaborating with NGRL (Manchester) to develop a specification for IT requirements associated with diagnostic use of these technologies.

Article for BSHG news 2008, 38:47-50

Please contact Chris Mattocks (chris.mattocks@salisbury.nhs.uk) for more information