Population-wide gene map row

Friday May 24th, 2013

Powerful modern techniques should make it possible to map every individual's personal genes - and improve medical care, according to one expert.

Professor John Burn of Newcastle University, UK, writes in the British Medical Journal that doing so "would give us unparalleled knowledge to prevent, diagnose, and treat disease".

He explains that the cost of gene sequencing has fallen 10,000-fold in a decade, and continues to fall. "We can have a whole genome for the price of a family package holiday," he writes.

Everyone carries about three million sequence variants, of which about 400 contribute to disease predisposition, and one or two would cause a severe disease if both parents pass them to a child. "The bioinformaticians need to know it all" to develop better diagnostic tests, he says.

Linking genome sequencing to clinical outcomes will boost drug discovery and development, expose the weaknesses of pathogens in order to tackle epidemics, and prevent drug resistance, he states.

However in the same journal Professor Frances Flinter of Guy's & St Thomas' NHS Foundation Trust, London, UK, points out the disadvantages.

"The cost and challenges of analysing, interpreting, and storing the data are substantial," he writes. But more important are the ethical issues it raises.

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