Rare disease diagnosis available in days not years: BIA announcement

It currently takes 5 years on average to diagnose a child with a rare genetic disease, so he or she can receive the most appropriate care. This is set to change with an agreement facilitated by Northern Health Science Alliance (NHSA) between Congenica and 5 of its member hospitals, which will see them adopt the company’s world leading Sapientia™ technology.

By creating a consistent genetic analysis and diagnostic platform across these teaching hospitals, the agreement paves the way for the North to be at the forefront of rare disease diagnosis.

Speaking about the agreement at the BIA Bioscience Forum, Dr Andy Richards CBE, chair of Congenica, the genomic diagnostic company, says: “Genomics is one of the fastest moving and most exciting areas in medicine and has the potential to make a real impact on patients lives, especially in areas like rare disease.

“However, the success of these technologies, like so much of the future of medicine, is about getting innovation in its early stages close to patients in a real healthcare setting.

“The NHSA has been one of the most forward thinking organisations in helping to introduce such technologies into its partner hospitals. We think that the selection of Sapientia as a platform across the NHSA serves as an excellent example of the sort of strategic alliance that can benefit innovation, UK companies, the NHS and most importantly patients.”

Dr Hakim Yadi, CEO of the NHSA – the umbrella body for the North’s leading universities, NHS teaching hospitals and Academic Health Science Networks – said: "This is an example of how the North's universities and NHS teaching hospitals acting together can speed up procurement and partnerships without compromising on due diligence. This is a demonstration of how the North is and can be an even greater powerhouse in the health life sciences.”

The NHSA links eight universities, eight NHS Teaching Trusts and the four Academic Health Science Networks (AHSNs) across the North of England; covering a patient population of over 15 million people. The NHSA acts as a single portal bringing together research, health science innovation and commercialisation

Congenica’s platform Sapientia has been developed to analyse and interpret whole genome data and has been validated by Genomics England.

In June this year, the NHS Regional Genetics Service in Manchester became the first in the country to use genomic sequencing analysis supported by Sapientia. This enabled it to move from gene panel testing on small sets of genes, to whole exome testing, covering all known genes in a single test, which is a faster and more cost-effective method when diagnosing rare disease.

Working with the NHSA, Congenica has made this technology available across the North of England with the region’s leading NHS genetic testing centres also adopting the Sapientia technology.

Central Manchester Foundation Trust (CMFT) will continue to be Congenica’s lead reference laboratory and serve as the test site for further developments, which could then be rolled out to other NHS hospitals underneath the NHSA umbrella, acting as an opportunity for scale up across the country.

This collaboration is a great example of how NHS centres can work together in a coordinated effort to evaluate and embrace pioneering technologies broadly and rapidly, making life easier for clinicians and ultimately bringing benefits for patients derived from reduced times for diagnosis.