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Source: Nature news article

The US National Human Genome Research Institute (NHGRI) has announced plans to divert DNA sequencing research funding towards projects focusing on health applications.

NHGRI is the major publicly-funded human genome research body in the US, funding three sequencing centres. Plans announced at the recent annual meeting of the American Society of Human Genetics reveal that funding to these large-scale sequencing centres will be reduced as three new funding areas are established. These will be an initiative to identify and catalogue the mutations that cause rare genetic diseases; projects that will use DNA sequence data to direct patient management (see previous news for examples); and efforts to develop robust, general bioinformatics tools for analysing sequence data.

Although funding for basic sequencing research remains important, these moves to invest smaller amounts in preparing the way for the actual clinical benefits of human genome sequencing are vital. In the UK, the PHG Foundation is taking a similar approach, but looking at the wider barriers and drivers for application of whole genome sequencing for medical purposes, including logistic, economic, ethical, legal, social and regulatory considerations.