Genomics England Newsletter - December 2015

Dear Alan,

Welcome to our December newsletter. As we reach the end of the year I wanted to tell you about some of the fantastic progress we have made over the past few months, and indeed the whole year.

Our pilot programme is now drawing to a close and all NHS Genomic Medicine Centres (GMCs) are recruiting rare disease and cancer patients on to the main phase of the 100,000 Genomes Project. This month we are delighted to welcome two new NHS Genomic Medicine Centres, Yorkshire and Humber and the West of England. Now eligible patients and their families across the whole of England can have access to the benefits of genomic medicine and this world-leading Project.

In addition to the 13 NHS GMCs in England, patients in Northern Ireland will also have the opportunity to take part in the Project. Health Minister in the Northern Ireland Executive, Simon Hamilton, recently announced a £3.3m investment to create a Northern Ireland Genomic Medicine Centre. Thank you to all our partners including the MRC, NHS England and the NI Rare Disease Partnership for making this happen. We hope that Wales and Scotland will soon join the Project too through partnerships between hospital and research centres.

It is important to recognise that whole genome sequencing at this scale, within a healthcare system, is unprecedented. It is not without challenges, but I am pleased to tell you that we now have 6000 whole genomes in our data centre. We have already returned diagnoses to some families including Jessica, aged 4, who joined the Project at the North Thames NHS Genomic Medicine Centre. In this video, Jessica’s parents talk about what the results mean to them, after years of failed tests to try to diagnose her rare genetic condition. We are immensely grateful for all of the families who have taken part in the Project so far, who are aiding research into conditions like Jessica’s.

This month we have also welcomed a number of new partnerships including Cognizant, a technology provider, and WuxiNextCode an interpretation partner. For more details on the genomics industry as a whole, see the recent Office of Life Sciences ‘Genomics in the UK’ report. The Government agrees that this Project is transformational. In the recent spending reviewthey committed to keep supporting the Project beyond 2017. This will ensure the introduction of whole genome sequencing technology to the NHS, and ensure we can enable research and bring benefits to future generations.

Finally I would like to thank all of our partners, the families who have taken part, and the NHS staff who have supported the delivery of the 100,000 Genomes Project and are all helping to transform the NHS for the benefit of patients.

With best wishes for Christmas and the New Year,

Sir John Chisholm
Executive Chair, Genomics England