December 20, 2018
Congratulations to our partners across the Atlantic. Genomics England, and the National Health Service (NHS), UK have just reached a major milestone by achieving their sequencing target in the 100,000 Genomes Project.
The project, one of the largest of its kind in the world, launched in 2012. It was designed to collect genomic data to improve the capacity of personalized medicine, as well as learn more about the genetic basis of disease. Focusing primarily on making progress in the areas of cancer and rare disease, participants with these conditions were recruited.
Collecting vast amounts of reference data for comparative analysis helps increase the understanding of disease. The comparison of genomic variation among large groups of patients has enabled a significant number of those involved in the 100,000 Genomes Project to receive a diagnosis for the first time in their life.
Sue Hill, Chief Scientific Officer for NHS England, said the achievement had only been made possible because of the commitment and contribution of NHS teams across the UK. “The results, which will continue to be returned to patients, show how genomic medicine can transform lives, bringing quicker and better diagnoses and increasing the number of patients surviving cancer.”
The work doesn’t stop there. Matt Hancock, the Secretary of State for Health and Social Care for the NHS announced in October, bold aspirations for the NHS to sequence 5 million genomes in the UK, over the next five-years.
With the common goal to improve diagnostic capability and outcomes for patients with cancer, rare diseases and infectious diseases, Genome BC and Genomics England signed a Memorandum of Understanding (MOU) in 2015. Under the agreement, the two groups have worked together to develop opportunities aimed at sharing and co-developing information and tools, that serve as a mechanism for the international exchange of knowledge and data in the field of genomics.
One of the collaborations was an initiative between the BC Centre for Disease Control, Oxford University and Public Health England to explore ways to accelerate the use of genomics as a tool for the diagnosis, treatment and tracking of tuberculosis. The project, lead by Drs. Jennifer Gardy and Derrick Crook, pioneered efforts to validate the use of a genomic platform in a clinical setting through the development of user-friendly reports to assist doctors in faster and more effective diagnosis and treatment. This allows clinicians, many of whom have not worked with genomic data before, to quickly and easily find the information and get the interpretation they need to ensure a direct benefit for patients.
Another pilot project stemming from the partnership has focused on improving the diagnosis of rare diseases in children while furthering the discovery of genetic variants in BC and around the world. The aim is to overcome challenges and enable the sharing of diverse medical information beyond data generated by Whole Genome Sequencing across boundaries. To effectively study rare disease conditions, Drs. Wyeth Wasserman and Allison Matthews at the BC Children’s Hospital Research Institute in collaboration with Genomics England are establishing ways to share clinical data such as results from x-rays or information from physical exams. Sharing this information in a standardized way, enables researchers to compare patients seen in different countries, by different doctors and still be confident that they are making a point-by-point comparison.
International partnerships, such as this, will help ensure best practices, leverage data sharing and clinical expertise, accelerating system uptake to improve patient outcomes.