The National Institutes of Health (NIH) in the US has demonstrated its intent to make personalised medicine a reality by outlining plans for projects set to cost almost half a billion US dollars. In particular, the NIH hopes its four-year plan will help identify the causes of rare genetic diseases and encourage the use of genome sequencing for the diagnosis of diseases in patients.
Genome sequencing is still predominantly a research tool, used to aid the understanding of anything from evolution to the details of cellular processes, rather than a clinical one. Its applications in patient diagnosis or treatment have been limited by the cost. However the last ten years have witnessed an almost 500,000-fold drop in the cost of sequencing. This now makes sequencing a more viable option, for example, as a means of tailoring treatment plans for people diagnosed with cancer based on predictions of how they are likely to respond to different drugs.
As the major US contributor to past genome sequencing projects including the Human Genome Project, completed in 2003, the National Human Genome Research Institute (NHGRI) is set to use the $416 million cash injection to explore the medical application for genome sequencing. Discussing the NHGRI's plan Director Dr Eric Green said: 'With the investments made over the last decade, and the new ones that we are now announcing, we believe we are moving along the path towards the realisation of genomic medicine'.
Included in the plan is an allocation of almost $90 million per year for on-going NHGRI projects such as the Cancer Genome Atlas, which catalogues genomic changes in human cancers. In addition, approximately 20 percent of the total funding has been assigned to establishing two new projects: the Mendelian Genome Centres and the Clinical Sequencing Exploratory Research Project.
The aim of the Mendelian Genome Centres initiative is to identify the genetic basis for all Mendelian diseases - those that are caused by mutations in a single gene. The causes for fewer than half of the 6,000 known Mendelian diseases that affect humans have been discovered to date, and while they are not always common, director of the program Dr Lu Wang expects that the program will 'shed light on more common, complex diseases that involve similar genes, pathways and phenotypes, and contribute to the understanding of basic human genetics'.In contrast the Clinical Sequencing Research Project is more theoretical in nature, and aims to explore the medical, ethical and social impacts of clinical genome sequencing. 'One of the things our institute can do on behalf of all of NIH is to get data on varying overarching sets of issues around applying genomics to medicine', explained Dr Green.