Health Policy

Sequencing Genomes

By - Integrated Care Journal

Sequencing Genomes

Genomics England and IQVIA have announced a collaboration to enable real-world clinical-genomics research by developing a platform that connects Genomics England’s growing database of clinical and genomic data with IQVIA’s experience of data analytics technology and research capabilities.

This will allow medical researchers to access a vast database of genomic information to utilise in medical research, with the aim of speeding the development of medicines for patients. IQVIA is a global leader in human data sciences, with a world-leading healthcare dataset.

By adding Genomics England’s extensive database from sequencing over 100,000 genomes it will create a tool available nowhere else in the world. This will not only bring benefits to the patients suffering from genomic diseases, but also to the wider UK economy and it will enhance the UK’s reputation as a location for leading-edge collaborations and high-quality healthcare data.

Genomics is one of the fastest growing branches of medical science, and it is already driving a paradigm shift in how we diagnose and treat illness. Only 15 years on from the first complete sequencing of a human genome, in the United States there are now over 250 medicines approved for treatment based on a person’s genomics.

DNA is the basis for all living organisms, and almost every cell in the body contains a complete copy of the three billion DNA pairs which make up the human genome. 99.8 per cent of our DNA is the same as other human beings, but it is the 0.2 per cent that is different that makes us unique. Much of that variance is perfectly healthy – the difference between blue and brown eyes – but sometimes that variation can cause disease.

Most human illnesses have some basis in our genes. For some diseases – such as Down’s Syndrome or sickle cell anaemia – the gene has been identified. However, for many diseases, including some rare diseases, the variant gene or genes that causes illness have not been identified. Genomic medicine works by mapping an individual’s DNA and comparing it to a database of DNA maps to identify the genes which maybe causing disease. Considering there are around three billion pairs of letters in an individual’s genome, identifying the single variant which causes disease can be challenging.

The UK is at the forefront of genomic research

In 2013 the UK Government announced the ambitious goal to sequence 100,000 genomes; a goal achieved by Genomics England in December 2018. The objective is now to take the genomic research into NHS practice and offer whole genome sequencing to children and adults with rare disease and some forms of cancer. It is hoped the number of whole genomes sequenced will expand to five million.

However, to truly benefit from large-scale whole-genome sequencing, the data must be stored, linked to de-identified clinical data and analysed effectively. The 100,000 Genomes Project has generated 21 petabytes of data and continues to generate information at the rate of 10 terabytes of data per day. It is estimated that the information that comes from a single human genome produces enough information to fill a stack of paperback books over sixty metres high.

UK Key Achievements 

The Genomics England and IQVIA collaboration will utilise IQVIA’s E360TM platform to allow more researchers than ever – from academia, industry, charities – to access de-identified data and create custom clinical-genomic datasets to conduct research. This will include studies into the burden of particular illnesses; identification of current treatment pathways; comparative safety or efficacy studies; drug target identification studies; medicine repurposing analysis; pharmacogenomic event detection and health economics and outcome research. All within a secure environment that protects patients’ privacy.

“Drawing insights from clinical-genomics datasets is the future of real-world research, and we are delighted to work alongside Genomics England as a pioneer in this evolving field. Our collaboration advances the analysis of these complex datasets, which could accelerate the discovery of precision therapies, improve access and health outcomes, and deliver upon our Human Data Science vision. ”

– Jon Resnick, President, IQVIA Real-World and Analytics Solutions

These data interrogations will provide deep insights into both patients and disease, which in turn should speed the development of targeted treatments. Additionally, for those clinical studies which include UK investigator site, there is the option of having a whole genome sequence performed on these patients in parallel to the clinical trial, driving genomically-enabled clinical trials and research. This could be particularly beneficial for rare diseases where patient numbers are small and enrolling enough patients to demonstrate efficacy can be challenging.

“IQVIA brings together deep healthcare and life sciences domain expertise to manage and curate real-world data with advanced analytical technologies. Working together, we can unlock the potential of these datasets to advance research and benefit patients in the UK as well as those throughout the world. ”

– Professor Joanne Hackett, Genomics England, Chief Commercial Officer

Life sciences companies are excited about this collaboration which will enhance the attractiveness of the UK as a location for investment. The UK already has a significant data advantage as the NHS is the largest integrated health system in the world, with healthcare records dating back to 1948.

Collaborations such as embedding Genomics England data within IQVIA tools will further enhance the UK as a world leader in healthcare data. Companies increasingly recognise the importance of big data – or real-world evidence – not only to support their licensing applications but also as they explore expansion of the treatment into other diseases.

Life sciences investment in the UK is not only beneficial for patients but also the wider UK economy. The sector employees around 233,000 people, generates £64bn in turnover and is one of the most productive sectors of the economy. Global competition to attract this investment is fierce, with many countries offering financial incentives and tax relief for companies willing to invest. For the UK to flourish there needs to be not only a welcoming fiscal environment but more importantly, access to the patients and data that can advance medical science.

This is particularly true in a post-Brexit world, where 86 per cent of US life sciences senior leaders agreed that uncertainty over Brexit is affecting global decisions about investment. During this period of transition, the UK Government must take every possible action to enhance the life sciences ecosystem, including improving the UK’s reputation for low and slow access to medicines. It would be indefensible if treatments developed using data insights on UK patients were not able to be accessed by UK patients because of the country’s restrictive health technology assessment process.

Data to empower patients

For this healthcare revolution to truly flourish, it must include patients in the conversation. There is often misunderstanding and mistrust amongst patients around how their personal healthcare data will be used. For the benefits of big data to be realised, patients need to give consent, and researchers and providers must take all steps to ensure anonymity and security of information. It is incumbent on all parties to ensure patients and the public continue to be educated about the importance of genomic research in tackling illness, and the importance of giving consent to the use of data for research via secure and anonymised datasets.

Genomics will be at the heart of healthcare innovation, but it will not be possible to unlock the potential of the science without access to the data the science generates. Customisable, searchable and flexible datasets are the future of the life sciences sector, and the collaboration between Genomics England and IQVIA to make this remarkable dataset available is a significant step. By allowing medical researchers access to this data it will have a role in accelerating the development of medicines to treat disease and ultimately, improve human wellbeing.


Yoshiko Cook – Head of Strategy and Business Planning, North Europe –

Professor Joanne Hackett – Chief Commercial Officer Genomics England – joanne.hackett@

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