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First Things First

As the UK's National Health Service takes on a £100 million initiative to sequence about 100,000 people, it has a number of questions to answer and challenges to overcome, writes Caroline Wright at Genomes Unzipped. The most pressing one, she adds, "will be to implement genomic knowledge in the clinic."

Wright says that there are a number of technical considerations that contribute to how genomic knowledge can be put to use in the clinic, from determining what and how data is stored, to interpreting and analyzing variants, and to deciding the broadness or specificity of a phenotype.

But first, she adds, the point of the project has to be refined. "Is the aim to maximize diagnostic yield, research potential, equality of access, or economic benefits?" she asks. The answer to that question, she writes, will influence who is sequenced, how the data will be used, and more.

"Doubtless part of the point of this initiative is to kick-start clinical genome sequencing in the NHS, by creating the necessary informatics architecture and manpower required," she says. "It will also generate a rich dataset to enable future research and facilitate clinical interpretation. But since this is primarily a clinical initiative, current NHS patients should benefit too."