The following is an edited excerpt.
The recent announcement that the UK Government has earmarked £100 million to “sequence 100,000 whole genomes of NHS patients at diagnostic quality over the next three to five years” raises a number of questions.
I’ve previously discussed the thorny issue of using targeted versus whole genome sequencing to maximize diagnostic yield and benefit patients. However, one of the great achievements of next generation sequencing technologies is to make the assay – actually sequencing the genome (or some portion of it) – one of the easier parts of clinical genomics. The biggest challenge will be to implement genomic knowledge in the clinic.
Read the full post here: £100M for whole patient genomes – an implementation challenge