April 30, 2010

expert reaction to first clinical analysis of a healthy human genome, to be published in The Lancet

A US scientist has become the first healthy person to have his entire genome sequenced and analysed for known genetic predispositions to a range of diseases. The research potentially brings forward new techniques in personalised medicine based on individuals’ genomes.

Dr Philippa Brice, Head of Knowledge and Communications, PHG Foundation, said:

“The new paper published in the Lancet provides the first example of a full-genome sequence of a healthy individual being combined with a broad clinical analysis; the genome sequence was published last year, but the clinical work-up is new.

“This is an exemplar of the sort of approach that will become increasingly feasible in the future as the costs of genome sequencing continue to fall; the findings included general information about genetic susceptibility to common diseases, pharmacogenetic information that could inform drug choice and dose, and information about genetic variants associated with inherited cardiac conditions that can predispose to sudden cardiac death.

“The paper highlights a range of issues that require urgent consideration as full-genome sequencing moves towards reality in medical practice. Evaluation of clinical utility – distinguishing between genuinely useful and irrelevant, misleading or even harmful genetic information – will be crucial, taking into account the complexity of combining genetic data with other clinical and risk information such as family history, markers of current health and lifestyle or environmental factors.

“Prompt action is needed to consider how health services should be preparing for the onset of whole genome-sequencing as a clinical tool including such areas as the development of the necessary bioinformatic and IT systems, wider societal and regulatory issues related to the more extensive use and storage of personal genomic information, and the development of a health professional workforce with the necessary knowledge and skills.

“These were many of the themes in the House of Lords report on Genomic Medicine. A new independent expert response to be launched by the Foundation for Population Health Genomics (PHG Foundation) in conjunction with the University of Cambridge Centre for Science and Policy (CSaP) next month addresses these key issues and suggests the way forward to ensure that the benefits of genome sequencing for health are realised swiftly and appropriately in the UK.”