First patients with rare inherited diseases are sequenced by Genomics England

Patients with rare inherited diseases have started providing samples of their blood so the whole of their DNA can be sequenced by Genomics England.

Patients with conditions ranging from heart disease to deafness which appear to be caused in part by an inherited gene have been included.

Genomics England plans to take 2,000 samples, from more than 600 patients and their mother and father, or other immediate family member, for whole genome sequencing.

Findings from the whole genome sequencing, matched to the patient’s NHS record, will start to be returned to Genomics England by early April and will build to form a unique dataset of information.

Prof Mark Caulfield, chief scientist for Genomics England, said: “It is very exciting that we have now started taking samples from patients as part of our plans to sequence 100,000 whole genomes by the end of 2017.

“We are focusing on patients without a clear diagnosis. Initial feedback on what we have found for individual patients will be fed back to patients via the clinical team that is providing the patient’s ongoing care at the end of 2014.”

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