The NHS, UK’s national healthcare provider, focuses on rare diseases to accelerate and improve diagnoses and to improve therapeutic support. The motivation for this initiative is an awareness that the current gold standard for diagnosing rare disease patients is a time consuming and expensive process. Furthermore, initial studies suggest that a significant portion of patients receive either the wrong or inadequate therapy.
The 100,000 Genomes Project (2014-2018) was initiated in 2012 by former Prime Minister David Cameron and led by Genomics England, a Company fully owned by the Department of Health in partnership with the NHS. The 100,000 Genomes Project aimed to benefit patients by ultimately providing appropriate diagnosis and increase the chances of effective therapy, to enable biomedical research, to stimulate the genomics industry in general and to promote ethics and transparency.
In 2018 Genomics England chose Congenica as its Clinical Decision Support Service partner for the delivery of clinical genomics to NHS England. Congenica’s selection was based on their software platform called Sapientia. Sapientia was developed over several years with a number of collaborators including the clinical research centres participating in the early stages of the 100K pilot. The reasons for selection of Sapientia as the preferred clinical interpretation platform was due to the higher diagnostic yield achieved (43% for all cases assessed by Sapientia) and the ability to manage, move and store WGS samples at significant scale. Congenica has also developed customer support capability that includes training, trouble shooting and a customer support hotline. In 2019 Congenica rolls out the clinical implementation of the sequencing reporting system for all British clinics of the NHS.
‘Rare disease’ is a terrible name for such a common problem, Atkins explained whilst lining out the numbers:
Needless to say, that wrong and/or late diagnoses and inappropriate therapy on a large scale are very expensive, moreover they create an diagnostic odyssey in which patients and their families are bounced around.
Champions and sponsors are key. “For the take-off of the 100,000 Genome Project it was David Cameron, but they may also be patients, their families, other partners. Find the people who will defile logic and have belief and passion.”
That said, making the use of genomic data accessible, routine and ubiquitous comes with a number of challenges:
The vision of the original Genomics England 100,000 genomes project was considered ambitious when it was first communicated several years ago. The goals were expanded significantly in October 2018 with the announcement by the Secretary of State for Health and Social Care of the goal to sequence 5 million genomes “within the next 5 years”. By all accounts the final details are to be finalised as it relates to the source of the genomes and funding, but the scale of the ambition has been inspirational to all those involved in clinical genomics in the UK. Without question this will continue to support the aims that lead to the development of the original pilot project of 100K genomes.
What is the benefit of the European 1+Million Genomes project, in which the Netherlands participates, when the UK will have 5 million genomes, Atkins is asked during his presentation?
The benefits would be like those anticipated by the investment in Genomics England that begins with and Improvement in the clinical genomics infrastructure, formation of a valuable Dutch genomics resource, new skills and capabilities and potentially an emerging industry. These in turn will elevate the standard of clinical care that will both help Dutch citizens and potentially reduce the cost burden.
Atkins ends his talk by sharing the lessons he has learned during his journey from genomic data to personalised health care so far.