Congenica

IMPACT CASE STUDY

ENABLING PRECISION MEDICINE AT SCALE

We see a future where precision medicine – an approach that considers an individual’s genetic make-up to accurately diagnose and treat them – is available to all. With support from CIC, we have developed a proprietary, world-leading platform capable of driving complex genetic data to be used ubiquitously for rapid analysis, diagnosis and treatment, with lowest burden on healthcare systems. We have been at the forefront of genomics medicine in the UK, which is a global leader in the adoption and use of genomics in everyday medicine. As the exclusive clinical decision support platform provider to the NHS, and working with national genomic projects, academic medical centres and clinical labs around the world, we are now perfectly placed to enable yet more countries across the globe to benefit from our software and the reality of precision medicine.

ROB DENISON

CEO

IMP RATING: B – BENEFIT STAKEHOLDERS COMPANY DESCRIPTION

Congenica is a digital health company that harnesses the power of genetic data to drive precision medicine worldwide, empowering researchers and clinicians to provide life-changing answers. Congenica’s platform aids clinical decision support and, when used alongside its Clinical Interpretation Services, Congenica helps to deliver a future where clinical genomics is fully integrated into healthcare.

Leveraging pioneering technology and automation, Congenica’s highly scalable and flexible platform can be employed in all areas of human disease where genomic information is key to unlock actionable insights. A recognised leader in the genomic analysis of rare diseases and inherited cancer, Congenica’s platform is the only product of its kind that has received the CE Mark under the In Vitro Diagnostics Directive.

Congenica is now expanding its platform to also offer a fully automated oncologyfocused end-to-end solution. The Precision Oncology Platform will provide clinical reporting including treatment recommendations based on the genomic profile of tumours in patients with cancer.

Based on pioneering research from the Wellcome Sanger Institute and the UK NHS, Congenica has a global footprint supporting national health systems, leading international laboratories, academic medical centres and biopharmaceutical companies. It is also the exclusive clinical decision support partner for the NHS Genomic Medicine Service.

IMPACT THESIS

Ever since the completion of the Human Genome Project for US$2.7 billion in 2003, there has been a belief that reducing the cost of sequencing to under US$1,000 would make the promise of truly personalised, or precision medicine, a reality. However, the costs and time required for sequencing and data interpretation made even next-generation sequencing (“NGS”) challenging for use in the clinic.

Moreover, while in recent years, the advances in technology-enabled NGS of whole genomes to be conducted at population scale as demonstrated by the UK 100,000 Genomes Project, the ability to analyse and interpret NGS data and its significance for an individual has failed to keep pace with the increased ability to generate genomic data. The greatest cost in NGS remains the sequencing, but the interpretation of data is by far the most time consuming and resource-heavy step in the process. Sequencing a single whole genome generates between 100–200GB of data. It is estimated that, by the end of 2025, the amount of genomic data generated per year will exceed 40 exabytes (40 million terabytes). Therefore, it is crucial that genetic analysis platforms can scale to meet the extreme demands of analysing such large volumes of data.

IMPACT SUMMARY

The UK’s 100,000 Genomes Project was launched by David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare diseases and inherited cancer. As a result, the UK became the global first nation to apply whole genome sequencing at scale in direct healthcare, as well as providing access to highquality, de-identified clinical and genomic data for research aimed at improving patient outcomes.

Genomics England subsequently selected Congenica as the exclusive clinical decision support solution for the UK NHS Genomic Medicine Service, following an extensive and competitive tender process involving the leading global providers of genomic data analysis solutions. Congenica’s platform rapidly transforms whole genome, whole exome and gene panel data into actionable information, enabling clinicians to improve diagnostic yield and case throughput. It also maximises workflow efficiency and increases confidence in diagnoses. Using the Congenica platform, Genomics England is able to now process an unprecedented 2,700 whole genomes per week.

Since its implementation, Congenica has helped Genomics England to achieve: • 95% reduction in manual data processing/interpretation costs; • 20x faster analysis and interpretation (from 20 hours to 30 minutes from data to report); and • 50% increase in diagnostic yield.

Congenica works with other national genome projects and provides whole genome services to the Hong Kong Genome Project (“HKGP”), the first large-scale genome sequencing initiative in Hong Kong. Outside national genome projects, Congenica works with diagnostic laboratories and healthcare organisations around the world.