The first results from the pilot study of the Genomics England 100,000 Genomes Project have been published today in the New England Journal of Medicine (link). The headline result is that using genome sequencing led to a new diagnosis for 25% of the participants. Of these new diagnoses, 14% were found in regions of the genome that would be missed by other conventional methods, including other types of non-whole genomic tests.

The full press release is available here, and this work has already been picked up by the wider media, including the BBC, the Guardian and the Financial Times.

I’m pleased to be a co-author on this paper, representing health economists alongside Sarah Wordsworth. Our costing work is inevitably only a small part of this publication due to space constraints, but we will report the results of our analyses in full soon. In short, we’ve costed all the secondary care resource use of these difficult-to-diagnose patients with rare genetic disorders. Taking such a detailed look at this healthcare resource use has allowed us to consider the potential impact of genome sequencing on diagnostic odysseys going forward.

Some of the media reporting has highlighted the potential for sequencing to save the NHS millions of pounds. While this is a finding that could emerge definitively from ongoing health economics work using this dataset, our focus here was on providing an overview of the costs these patients (and their families) incur, and highlighting particular cases that demonstrate the potential value of sequencing.

Overall, the patients in the study had more than 180,000 hospital visits at a combined cost of around £87m to the NHS. Participants who received a diagnosis through the pilot included:

• A 10-year-old girl whose previous seven-year search for a diagnosis had multiple intensive care admissions over 307 hospital visits at a cost of £356,571. Genomic diagnosis enabled her to receive a curative bone marrow transplant (at a cost of £70,000). In addition, predictive testing of her siblings showed no further family members were at risk.
• A baby who became severely ill immediately after birth and sadly died at four months but with no diagnosis and healthcare costs of £80,000. Analysis of his whole genome uncovered a severe metabolic disorder due to inability to take vitamin B12 inside cells explaining his illness. This enabled a predictive test to be offered to his younger brother within one week of his birth. The younger child was diagnosed with the same disorder but was able to be treated with weekly vitamin B12 injections to prevent progression of the illness.

There are more results from this work to come over the coming months – I’ll flag all the key publications via this blog.