The new UK Genomic Medicine Service
Dr Chris Jacobs from GSH’s Genetic Counselling team discusses the implications of the new UK Genomic Medicine Service.
In December 2019, Genomics England reached its target of sequencing 100,000 genomes. The UK’s 100,000 Genome Project was launched by the British Prime Minister in 2012 with the goal of ”harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer”.
Interim analysis of the Genome Project indicates that one in four participants with rare diseases have been provided with a diagnosis they would not otherwise have had. It is clear that the results of this project are truly life-saving. Up to half of cancer patients with a potential actionable finding have had the opportunity to take part in a clinical trial or receive a targeted therapy.
As a result of this project major changes to the organisation of laboratory services across the UK have taken place, building on the 100,000 Genome Project. Previously genetic testing was undertaken by many small to medium-sized labs around the UK, but since early 2019, a national Genomics medicine service in England is being created with testing being provided through a single national testing network made up of seven Genomic Laboratory Hubs (GLHs). Each of these GLHs are responsible for coordinating services for a specific area of the country. Consolidating and enhancing the laboratory services has created a world-class resource for the UK National Health Service (NHS), providing a solid foundation upon which to build a national Genomic Medicine Service.
The NHS Genomic Medicine Service is launching in the UK through a phased implementation process. Testing of the systems and processes is currently underway. The aim of the Genomic Medicine Service is to provide equitable access to genomic testing to patients across the NHS from 2019, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes. To drive the equitable provision of testing across the Genome Medicine Service, a National Genomic Test Directory has been established that specifies which genomic tests are commissioned by the NHS, the technology by which these tests are available, and the patients who will be eligible to access testing.
So, what does the NHS Genomic Medicine Service mean for genetic counsellors in the UK and elsewhere in the world?
Dr Christine Patch, Clinical Lead for Genetic Counselling at Genomics England said “The provision of whole genome sequencing and more mainstreamed genetic testing will change the work of Genetic Counsellors, the exact way in which that happens is evolving”.
The launch of the NHS Genomic Medicine Service is a huge step forward for healthcare. Patients are already benefiting from improved diagnostics and treatment. Genetic Counsellors have the skills to support clients and families through the many and varied challenges these new technologies will bring. The UK however, like Australia, currently has a small genetic counselling workforce and there is clearly a need to expand the numbers of trained Genetic Counsellors. This is an exciting, if uncertain, time for the genetic counselling profession and it is important that Genetic Counsellors around the world embrace the changes and prepare for the challenges ahead.
As this short video presented by Dr Anna Middleton, Chair of the UK Association of Genetic Nurses and Counsellors for the UK and the Republic of Ireland shows, there is a bright future ahead for Genetic Counsellors.