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UK launches National Genomic Healthcare strategy

New initiative unveiled to coincide with Rare Disease Day


The UK government has announced plans to further its goal of becoming a world-leader in bringing genomics into everyday healthcare.

The National Genomic Healthcare strategy sets out how the genomics community, including pharma, healthcare and data companies can work together to offer a predictive, preventative and personalised healthcare service - and it starts with rare diseases.

Genomics has huge potential to help people with rare diseases, the mapping of their genes helping to stop the so-called 'diagnostic odyssey' that most go through, which involves years of uncertainty and incorrect diagnoses before the true nature of their condition is identified.

The new initiative is taking another step forward to coincide with today's world Rare Disease Day, which aims improve diagnosis and treatment of rare conditions, which affect one in 17 people, or almost 6% of the population. This equates to around 3.5m people in the UK and 30m in Europe.

From this year, the NHS will offer whole genome sequencing (WGS) to every adult and child in the UK with certain cancers and rare genetic conditions. This will be used to provide treatment personalised to the patient to improve their condition and quality of life.

By using patients’ DNA profiles mapped through sequencing, researchers can also divide patients into subgroups and identify those that will likely respond to specific treatments.

As a result, clinical trials will become more efficient, which will help accelerate the development of new medicines.

Minister for Innovation Nicola Blackwood (pictured below), said: “Through the NHS Long Term Plan, we want to lead the world in the use of data and technology to prevent illness – not just treat it.

“We want to diagnose condition before symptoms occur, and we want to deliver personalised treatment, informed no just by our general understanding of disease but by our own personal, de-identified medical data – including our genetic make-up.”

Nicola Blackwood

The government also outlined how it will improve services for those with rare diseases, pledging that every person with a rare disease will have a dedicated person responsible for co-ordinating their care.

In addition, those with rare disease will be given an ‘alert card’, which details information about their specific condition, including treatment regimen and contact details.

Children with a rare condition will be more effectively transferred to adult services when they reach the age of 18, even if that adult service is not the commissioning responsibility of NHS England.

Blackwood, who has a rare condition herself, having  Ehlers Danlos disease, adds: “We must never relent in our campaign to bring end to the ‘diagnostic odyssey’ – it is pernicious and even after diagnosis the damage it does to mental health of patients and their families must not be forgotten. We must press even harder on clinical awareness and ground breaking research so more patients can be diagnosed and treated earlier.”

The new strategy builds on Health Secretary Matt Hancock’s ambition to sequence 5 million genomes in the UK by 2024.

This will be completed under Genomics England, which recently reached a milestone last year after it sequenced its 100,000th genome. The project helped 1 in 4 rare disease patients achieve a diagnosis for the first time.

The next steps will be for the National Genomics Board to work with the broader genomics community to develop a National Genomics Healthcare Strategy.

For patient groups like Rare Disease UK and pharma companies, new rare disease treatments is a vital component of this strategy, but they say access to these treatments is uncertain because of NICE's approach to cost effectiveness. A recent report claimed that NICE's 'inflexible' approach to appraisals was restricting or blocking access to many rare disease treatments.

Article by
Gemma Jones

28th February 2019

From: Healthcare



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