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Clear Policy Needed

Clinical genome sequencing should start as way to diagnose patients, rather than as a broad screening tool, says a group of UK researchers in the British Medical Journal.

The UK's National Health Service is taking on a project to sequence some 100,000 patients' genomes, which the researchers led by Caroline Wright at the Wellcome Trust Sanger Institute say underlines the need for a "clear testing policy."

While they write that sequencing full genomes may be more powerful and potentially cheaper and faster than sequentially testing individual genes, it also brings up the issue of properly interpreting the meaning of certain variants for patients.

"Given the limitations in our understanding of genomic variation, intelligent use of sequencing technology demands that we select which parts of the massive amounts of data we want to interrogate in detail to answer a clinical question," Wright and her colleagues say.

They add that as more research is conducted, especially large-scale, population wide, and longitudinal examination of variants and their penetrance, then more genomic screening could be opened up.

"However there is not, currently, the evidence base to justify opportunistic genomic screening, and collecting this evidence should be a pre-requisite for any considered use of genomic information in opportunistic screening," Wright and EMBL's Ewan Birney add in a related blog post at Genomes Unzipped.

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