Building a brighter future for the millions living with genetic disease

The Chief Scientific Officer with responsibility for Genomics reflects on the consequences of genetic disease on Jeans for Genes day.

As we prepare to don the denim for this year’s Jeans for Genes day on Friday 22 September, it’s a good time to stop and reflect on quite how big an impact genetic disease has on people across England and the work the NHS has been doing to improve diagnosis and care for families with genetic disease over recent years.

There are many thousands of different genetic diseases; the most common (Sickle Cell and Cystic Fibrosis) affecting a little over 10,000 people each, the rarest affecting maybe just one family, with maybe only a handful of cases in the whole world. But – together – all these rare diseases affect the lives of more than 3.5 million people. As new technologies teach us more about genomics the number of people with an underlying genetic cause for their condition will increase.

This country has a long tradition of screening and helping families carrying genetic diseases, dating back to the early days of the NHS in the 1950s. Advances in technology and developments of genetic services allowed more conditions to be picked up both before and after birth – with all new mothers familiar with the ‘heel prick’ test which picks up nine of the most common conditions. This allows the babies identified in this way to be given the most appropriate care and support within days of their birth, giving them the best chances for their future lives. For less common conditions, the network of regional genetics services up and down the country allows identification and support for families once symptoms of genetic disease become apparent.

But for very rare disease, the situation is a lot more challenging and the meticulous investigatory work worthy of an Agatha Christie novel, or maybe CSI Genetics. If a child has a particularly rare condition, the painstaking process of testing and retesting can take many years – or even decades, which is truly a diagnostic odyssey.  Despite the best efforts of clinical teams and expert laboratory staff, some families never get a clear answer and the charity, Syndromes Without A Name (SWAN UK), provides excellent support to those in this unenviable position.

There is a real commitment across the NHS to improve this situation, and this has been one of the major drivers of the NHS contribution to the world-leading 100,000 Genomes Project, recruiting families for whom established genetic testing has not provided an answer then using cutting-edge whole genome sequencing to analyse all 3.3 million letters of an individual’s genetic code.

The progress to date has been remarkable. Since the end of 2014 we have established 13 Genomic Medicine Centres providing care to cover the whole country. Now each month about 2,500 people with genetic disease and family members are being recruited into the Project, together with 500 patients with cancer. Our current experience is that this is providing diagnostic answers to four or five times as many people as through established genetic testing. This number is sure to grow as we build our reference library of findings in a national genomic knowledge base, helping speed the identification of others coming through with similar conditions.

For families dealing with the consequences of genetic disease, receiving a clear and accurate diagnosis can provide enormous comfort, making sense of a condition and allowing them to build links with others in this country and around the world. It brings an end to the diagnostic odyssey – with the repeated hospital visits and fruitless tests, allowing families to get on with the rest of their lives. It can also provide important answers as to treatment and care approaches to improve the management of the condition. In some cases these diagnoses have enabled clinical teams to make profound improvements through measures as simple as changing their diet or vitamin injections.

But our ambition does not stop there. NHS England has always recognised that there has been a need to continue this life changing work when the 100,000 Genomes Project concludes at the end of 2018. With this in mind, this March the NHS England Board approved the establishment of a national NHS Genomic Medicine Service providing comprehensive and equitable access to the latest in genomic testing and management for the whole country, regardless of condition and where people live. This will build on the NHS infrastructure built up through the 100,000 Genomes Project and the ever-growing national genomic knowledge base.  On top of this there will be a new generation of NHS Genomic Laboratory hubs, working together as a national testing service delivering a common directory of  genomic tests, reviewed every year to keep up with the latest developments.

So as you pull on your jeans this Friday, do take a moment to think about the three million people living with the consequences of genetic disease and say a ‘thank you’ to all of those working to help them across the NHS – and working to build a genomic medicine service that is already the envy of the world.

Sue Hill

Professor Dame Sue Hill DBE FMedSci FRSB FRCP(Hon) FRCPath (Hon) FHCS (Hon) is the Chief Scientific Officer (CSO) for England and a respiratory scientist by background.

Throughout her career she has led on large-scale priority programmes across government and in NHS England including as the senior responsible officer for Genomics in the NHS, introducing a world-leading and nationwide Genomic Medicine Service, building on her work in heading up the NHS contribution to the 100,000 Genomes Project.

She has also played a pivotal role in the national COVID-19 programme leading the development and deployment of testing technologies into use for the UK population and co-directing the whole-genome sequencing of SARS-CoV-2 programme.