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Analysis

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

BMJ 2018; 361 doi: https://doi.org/10.1136/bmj.k1687 (Published 24 April 2018) Cite this as: BMJ 2018;361:k1687

Re: The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

The 100,000 Genomes Project: the reality

The 100 000 Genomes Project (100k GP) described by Clare Turnbull and colleagues (ref) is a world-leading initiative offering welcome opportunities for patients with rare and undiagnosed conditions. However, the challenges of delivering results cannot be minimised.

Overall recruitment is behind schedule and only reached the halfway point in February, three years into the project which is due to end this October. Despite this, the volume of work appears to have exceeded expectations and reporting times remain longer than planned. To date we have received results for only a fraction of the 80+ families recruited in our paediatric dermatology department. We are assured that this will improve; West Midlands Genomic Medicine Centre (WMGMC) is now receiving some 200 results per month. The use of targeted gene panels is helping to speed up turnaround and (helpfully) reducing the number of variants of unknown significance (“VUS”), but this leaves a large number of negative results: patients will not be satisfied with “no mutation found” and those cases require a robust system of further interrogation.

Importantly, systems for multidisciplinary discussion and validation of complex results, and feedback to patients, are not yet established. Our approach in the West Midlands is to build speciality networks to support interpretation of results and incorporation of genomic testing into routine clinical practice post-100kGP. Our recent survey of West Midlands dermatologists confirmed that only a handful are actively recruiting but most want to be involved in discussion of their patients’ results; time pressures preclude regular face-to-face MDT meetings but colleagues would access an on-line conferencing solution.

We strongly support the 100k GP for all the reasons given by Turnbull et al. At our first dermatogenetic MDT recently, we discussed an undiagnosed disorder with an unexpected mutation raising the possibility of a novel disease and an unsuspected susceptibility to cancer. If we continue to receive results as useful as this, this will be a tremendous achievement. However pragmatic solutions must quickly be found to ensure that patients receive validated and useful results in a timely manner. We look forward to seeing the ideals of the 100k GP effectively realised and translated into future NHS genomic testing beyond the 100k GP.

Competing interests: No competing interests

11 May 2018
Celia Moss
Consultant Dermatologist
Aaron Wernham
Birmingham Children's Hospital and University of Birmingham
Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH