The new funding, part of the Large-Scale Genome Sequencing Program, is intended to focus on medical applications; NHGRI Director Eric Green said that it would begin to “move us into genomic medicine".
The Mendelian Disorders Genome Centers programme aims to identify the genetic basis of all Mendelian or monogenic diseases; most of these disorders are individually very rare and the underlying genetic mutation remains unknown for many thousands. Another major programme will be the Clinical Sequencing Exploratory Research Project, which will explore the medical, ethical and social impacts of using genomic sequencing in a clinical setting. Funds will also be used to develop new, accessible computer software to analyse genomic data for clinically relevant information.
Comment: This funding allocation is timely, and shows recognition of some of the very important issues and barriers that must be addressed if whole genome sequencing technologies are to be used by hospitals for direct medical benefits, as outlined in the key PHG Foundation report released this autumn, Next steps in the sequence. Other countries should similarly be considering how they will realise this potential; key issues identified in the UK centred on the urgent need to develop bioinformatics expertise and infrastructure for clinical applications, as well as economic and policy analysis. Will the UK government show similar commitment by allocating appropriate funding to such endeavours?