What does the 100,000 Genomes Project mean for patients and the NHS? by Stefano Gortana

EDITED: 06/03/2017 | PUBLISHED: 18/07/2016

The All-Party Parliamentary Group on Personalised Medicine hosted a roundtable meeting in the House of Lords on Wednesday 6 July 2016. The room was filled to capacity with parliamentarians and stakeholders who shared a common interest in the progress and potential impact of the 100,000 Genomes Project.

APPG Chair Jo Churchill MP opened the meeting with a warm welcome and an enthusiastic endorsement of genomic medicine. Acknowledging the importance of personalised medicine to future healthcare in the UK, Jo emphasised the great potential of genome sequencing and analysis to facilitate earlier diagnoses and improved treatments in diverse illnesses ranging from rare diseases and cancers to cardiovascular conditions and hospital infections. The major challenge, she highlighted, will be to bring this technology and understanding to mainstream hospitals across the country.

In order to better understand the 100,000 Genomes Project, Jo chaired a panel comprising Professor Mark Caulfield, Chief Scientist at Genomics England, the NHS company leading the Project; Professor Maria Bitner-Glindzicz, a molecular geneticist involved in the collection of samples for the Project; Edward Sherley-Price, Chair of the Project Participant Panel and the father of a child with a rare disease diagnosed through genomic sequencing; and Co-Chair Lord Norman Warner.

Sequencing as much as possible to improve patient outcomes

Providing a general introduction to the 100,000 Genomes Project, Professor Caulfield explained that Genomics England is focused on decoding the genetic basis of rare inherited diseases, various cancers and infectious disease, specifically tuberculosis. To that end, the Project includes thirteen genomic medicine centres (GMCs) throughout the country, a central sequencing facility and data centre and diverse collaborations across industries and international borders. Staff have already sequenced 3000 tuberculosis bacterial genomes and are working on over 200 rare diseases and cancers, with several thousand diagnoses expected over the next few weeks.

An enormous commitment – but dedicated staff make it possible

As the discussion turned to the details of the 100,000 Genomes Project, Professor Bitner-Glindzicz emphasised the monumental challenges faced by the North Thames GMC. Tasked by Genomics England to take and process multiple blood samples per participant, the laboratory is now handling hundreds of thousands of samples over and above their routine clinical laboratory workload. Such a monumental effort, she stressed, is only made possible by the exceptionally committed staff who both work tirelessly and also devote considerable effort to collaboration with teams at other facilities, because they believe that the 100,000 Genomes Project is worth the investment of their time and effort.

For patients, the 100,000 Genomes Project means hope

Bringing the presentations to a close, Mr Sherley-Price gave an account of his experience with the forerunner of 100,000 Genomes Project, the Deciphering Developmental Disorders (DDD) project that brought together experts from the Sanger Institute and all the NHS Regional Genetics Centres. As the parent of an affected child, he explained the personal struggles that precede a genetic diagnosis, as well as the relief and understanding that follow. Aside from the more personalised and thus more effective medical intervention, the diagnosis also gave a great surge of hope to the Sherley-Price family: that new treatments might become available in the future, that developments in genetic testing could help others in a similar situation, and that awareness and understanding will improve the lives of those with genetic conditions.

Lingering concerns

The presentations were followed by an extensive question and answer session where attendees voiced concerns regarding the execution of the 100,000 Genomes Project, for example, the inherent challenge of suitable education in genomic medicine for both current and future clinicians. Both Dr Sarah Wollaston MP, and the clinical lead for the 100,000 Genomes Cancer Programme Dr Clare Turnbull highlighted the interrelated challenges of maintaining data security and transparency while ensuring genomic data is shared freely to maximise medical benefits. A number of attendees including Baroness Masham questioned how Genomics England is working to ensure the 100,000 Genomes Project is accessible to patients across England.

While representatives from Genomics England acknowledged that challenges exist, they reassured attendees that efforts are being made to address them. For example, Health Education England offers a Master’s degree course in Genomic Medicine for NHS staff, although the challenge of educating the 130,000 specialist doctors and 230,000 GPs nationally will take time. Jo Churchill MP concluded that while there is no guarantee of success of the 100,000 Genome Project, it is an opportunity that must be seized.

The APPG on Personalised Medicine will continue to explore topics in personalised medicine, providing a platform for rigorous debate and discussion of innovative science and technology that could foster a more effective and efficient NHS. For more information, visit the APPG website.