1Introduction
1.In July 2017, Professor Dame Sally Davies, the Chief Medical Officer (CMO) for England and Chief Medical Advisor to the Government, published her annual report, entitled ‘Generation Genome’.1 She focused on the opportunities and challenges associated with embedding genomics in everyday NHS care. Genomic medicine involves mapping a person’s DNA and, through comparison with many other people’s DNA and medical records, searching for elements related to disease. As the CMO highlighted, genomic medicine has the potential to deliver a range of health benefits to patients. These include: providing diagnoses where this has not been possible using clinical symptoms or other techniques; determining which treatments will be most effective, or which will provoke adverse reactions, for a specific patient; informing personalised disease prevention strategies; improving newborn and prenatal screening; and facilitating drug discovery.2
2.The CMO’s report reflected the aim of the 100,000 Genomes Project, launched in 2012, to “accelerate the uptake of genomic medicine in the NHS”.3 At its 2016 board meeting, NHS England stated that:
Since its inception the expectation has been that by the end of the [100,000 Genomes Project] NHS England, working in partnership with Genomics England, will commission whole genome sequencing and embed genomic medicine into routine care pathways where it is clinically and cost effective to do so, in line with [the] NHS constitution […] to continue to operate at the limit of science.4
3.With the 100,000 Genomes Project aiming to complete the sequencing of 100,000 genomes by the end of this year, NHS England intends to establish a Genomic Medicine Service, offering genetic tests ranging from analysis of single genes to whole genome sequencing as part of routine NHS care.5 Major components of that Service will include:
- 13 Genomic Medicine Centres, already established as part of the 100,000 Genomes Project, responsible for clinical care, obtaining patient consent and providing clinical data and blood or tumour samples;
- a network of Genomic Laboratory Hubs, each intended to deliver a standard list of genomic tests;
- a central data repository connected to wider NHS digital infrastructure; and
- an annually refreshed National Test Directory, setting out what genomic tests are available and when they are applicable.6
The CMO told us that NHS England intends to have the Genomic Medicine Service “operational” in the second quarter of 2018 and have it “mainstreaming” in the second quarter of 2019.7
Our inquiry
4.Our predecessor Science and Technology Committee launched an inquiry into ‘genomics and genome editing’ in November 2016, but was unable to complete its inquiry due to the 2017 General Election. The earlier inquiry received 62 written submissions8 and took oral evidence from 19 witnesses, and the Committee published an interim report in April 2017 that flagged issues for further scrutiny.9 With the publication of the CMO’s report in July 2017, and the approaching conclusion of the 100,000 Genomes Project, we decided to continue and complete the earlier work, with a focus on the challenges in embedding genomic medicine in the NHS. During the course of our inquiry, we received 37 further written submissions and took oral evidence from 11 witnesses, including from the NHS, academia, the pharmaceutical industry, the CMO and the Parliamentary Under-Secretary of State for Health, Lord O’Shaughnessy. We have endeavoured to use the large volume of evidence from our predecessor Committee’s inquiry. We also visited Genomics England (see Annex).
5.In Chapter 2, we examine the progress of the 100,000 Genomes Project and assess the opportunity presented by whole genome sequencing. Chapter 3 discusses logistical challenges involved in the transition to the NHS Genomic Medicine Service. Chapter 4 looks at access to genomic data, including issues around patient consent, consequences for insurance and NHS engagement with industry. Chapter 5 briefly reviews the related—but distinct—technology of genome editing.
1 ‘Generation Genome’, Annual Report of the Chief Medical Officer 2016 (2017)
2 ‘Generation Genome’, Annual Report of the Chief Medical Officer 2016 (2017)
3 ‘The 100,000 Genomes Project Protocol’, Genomics England (2017)
4 NHS England Board Paper, 30 March 2017
5 NHS England Board Paper, 30 March 2017
6 ‘Genomics in the NHS’, presentation by Prof Sue Hill at the ‘Implementing a National Genomic Medicine Service for the NHS: building on the legacy of the 100,000 Genomes Project’ joint event by the All-Party Parliamentary Health Group and the All-Party Parliamentary Group for Personalised Medicine, 7th November 2017
7 Q161
8 Science and Technology Committee, Sixteenth Report of Session 2016–17, ‘Genomics and genome-editing: future lines of inquiry’, HC 854 (references to this inquiry’s written evidence are labelled with a ‘GEN’ prefix)
9 Science and Technology Committee, Sixteenth Report of Session 2016–17, ‘Genomics and genome-editing: future lines of inquiry’, HC 854
Published: 20 April 2018