The NHS must take steps to prepare for a revolution in genetics-based medicine, according to a new report by the independent think tank, the Foundation for Genomics and Public Health (the PHG Foundation). The Foundation says that rapid advances in technology will soon make it possible for individuals to have their entire genome analysed affordably, and this will have a major impact on many aspects of healthcare.
A genome is the entire genetic information possessed by an individual organism. In humans this consists of around 23,000 genes, and three billion 'letters' of DNA code. The sequence of letters in this code is unique for every single person (with the exception of identical twins, who have the same code). Whole genome sequencing (WGS) technology 'reads' an individual's complete code and so provides information about every gene that person carries. The PHG Foundation believe WGS technology will soon be so cheap and rapid to perform that it may replace conventional genetic testing, which looks at just one or a handful of genes at a time to investigate a specific disease or condition.
In a 185-page report, 'Next steps in the sequence: the implications of whole genome sequencing for health in the UK', presented to the Government's advisory body the Human Genome Strategy Group (HGSG), the PHG Foundation made recommendations to help the NHS prepare for the impending medical impact of WGS. These included creating new biomedical informatics expertise within the NHS and establishing databases to aid understanding of which genomic variants affect health. The report's lead author Dr Caroline White told the BBC: 'The biggest challenge, in a way, is interpretation [...] Once you've got your three or six billion letters of code, finding the answer in that is going to be very difficult'.
The most immediate benefits of WGS will likely be for the diagnosis, understanding and treatment of rare inherited disorders and cancer. However, in the long term, WGS has the scope to provide information on genetic predispositions to an enormous array of conditions, and even to predict the likely response of a person or their illness to particular drugs. James Peach, Director of Stratified Medicine at Cancer Research UK commented: 'We're only scratching the surface of what WGS technology can do for us [...] but there are problems about using it in the NHS, and the biggest problem is that we don't know what to do with it'.
The report is the result of a review of WGS technology by a panel of experts and industry representatives from the UK and Europe. In addition to reviewing advances in technology, they considered the ethical, social, legal and economic impact of WGS and made recommendations for the framework in which it should be used. These included developing targeted analysis techniques to minimise incidental findings; only telling patients about medically important information that arises; and providing education in genomic data interpretation for healthcare professionals.