The future of genomics and precision medicine

The future of genomics

How is the use of genomics data enhancing our medical understanding and what does this mean for the future of precision medicine?

Genomics is one of the fastest growing branches of medical science, and is already driving a paradigm shift in how we research a disease, as well as diagnose and treat illness. Fifteen years on from the first complete sequencing of a human genome, there is a growing number of medicines moving through approval processes for treatment based on a person’s genomics. The data gathered and held on non-identified patients is getting larger, more varied, and more precise. We increasingly know more than ever about the science behind a disease, the impact of treatment and the development of therapies for specific individual characteristics.

For example, in diseases such as sickle cell anaemia, the gene has been identified so that treatment can be targeted for optimal outcomes.

In many diseases however, the variant gene that causes illness has not yet been identified. Genomic medicine works by mapping an individual’s DNA and comparing it to a database of DNA to identify the genes which may be causing the disease. Considering that there are 3.2 billion pairs of letters in an individual genome, identifying the single variant which causes disease can be challenging. The addition of genomics data to our scientific and medical understanding forms a critical step on our journey towards precision medicine – with the potential to transform clinical research and healthcare delivery.

“The addition of genomics data to our scientific and medical understanding forms a critical step on our journey towards precision medicine – with potential to transform clinical research and healthcare delivery.”

Combining expertise

In October 2018, IQVIA and Genomics England announced a collaboration to launch the first Real-World research platform with integrated clinical and genomic data – non-identifiable as to an individual – bringing together the genomics data, expertise and network of Genomics England with the healthcare data management, technology and
industry engagement from IQVIA.

Authorised researchers will be able to run studies to enable faster and more efficient drug research as well as the development of robust evidence to support treatment value and be a catalyst in the direction towards personalised medicine. Together, the collaboration will develop the technology platform that will connect clinical and non-identified genomics data that will enable researchers – both academic and commercial – to conduct a wide range of research including: association studies of genomics and observable traits, comparative efficacy and safety trials, and burden-of-illness and discovery analytics using the de-identified data in a secure environment that protects patients’ privacy. Life sciences companies that use IQVIA’s leading clinical and observational research will be able to provide genomic testing to patients in parallel or as part of their clinical programs.

“The IQVIA & Genomics England alliance will enable research to advance precision medicine and patients’ access to novel therapies – getting the right drugs to the right patients, at the right time.”

Accelerating diagnosis

There are currently over 7000 known rare diseases, with approximately 250 approved drugs for treatment based on a person’s genomics, and yet it still takes on average 4.8 years to accurately diagnose a patient. A better understanding of the genetic drivers of diseases will help to accelerate patient diagnosis and the right treatment.

As an example, within nephronophthisis (NPHP) it can be hard to identify patients. Using the rich data within Genomics England, 12 previously undiagnosed patients with homozygous NPHP1 deletions were found. Ultimately by finding these patients, the healthcare system can better treat the patients; through linking to clinical data the disease history can be analysed and research used to develop future treatments for this condition. In another example, a molecule for the treatment of pancreatic cancer has been granted FDA Orphan Drug Designation and is currently being trialled in patients across the UK – this has not only sped up the molecule’s progression through testing, but reduced trial costs by 30-50% due to better targeting of patients.

The deeper insights about patient populations and faster ability to understand the value of patient treatments has the real potential for analytical and scientific advances. The IQVIA and Genomics England alliance will enable research to advance precision medicine and patients’ access to novel therapies – getting the right drugs to the right patients, at the right time.

Unlocking innovation

We believe that the linkage of non-identified genomics with non-identified clinical and other health data will be a centrepoint of healthcare innovation. However, it will not be possible to unlock the potential of this science without appropriate access to the data that the science generates.

Both IQVIA and Genomics England were proud to take part in the second Life Sciences Sector Deal released in December, and continue to support the UK Government and the industry’s aim to ensure life sciences’ potential is realised through collaborations such as these. Customisable, searchable and flexible databases are the future of the development of this sector of life sciences, and the collaboration between IQVIA and Genomics England to make this dataset available is a significant step forward. Through medical researchers having access to this data, it will have a role in accelerating the development of medicines to treat disease and ultimately, improve human wellbeing.


Professor Joanne Hackett is the Chief Commercial Officer at Genomics England and lead member of the Business and Investment Committee.

Yoshiko Cook is Head of Strategy and Business Planning, North Europe, IQVIA.

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