A Coventry optician is believed to be the first in the country to back a pioneering NHS initiative which aims to improve the care of patients with rare diseases.

Dr Trusit Dave (pictured) and his team at Eyetech Opticians, which has two branches in the city, are to start referring potential participants for the 100,000 Genomes Project to medics at University Hospitals Coventry and Warwickshire (UHCW).

The project, the largest of its kind in the world, aims to improve understanding, diagnosis and treatment of rare diseases and cancer by sequencing 100,000 whole genomes from 70,000 people and combining the results with their medical.

UHCW is one of 17 NHS Trusts which form the West Midlands Genomic Medicine Centre (WMGMC), one of 13 centres delivering the NHS England programme.

Dr Dave heard about the project purely by chance when Sean James, Tissue Bank Manager at UHCW and a Genomics Ambassador with the WMGMC, was undergoing a routine eye check.

“I was vaguely aware of something going on in terms of genetics and rare diseases and looking at the various aspects of gene therapy but didn’t know too much about it,” he said.

“It was just fortuitous that Sean was in my consulting room chair and started talking about the project and we realised that some of the patients we see might be able to take part.”

Many of the rare eye conditions eligible for participation in the 100,000 Genomes Project – such as inherited cataracts, retinal conditions and corneal dystrophies – are encountered by Eyetech specialists as the practice offers enhanced clinical diagnosis and treatment options.

“Optometric practices will occasionally see patients with these conditions and they’re always interested in knowing more about a condition that is inherently quite rare,” added Dr Dave. “Offering them the chance to take part in the 100,000 Genomes Project may potentially help to answer some of their questions.”

Mr James added: “It is great that Dr Dave is identifying patients who are under the care of his practice with diagnosed inheritable/genetic ophthalmological conditions who may be interested in taking part in the 100,000 Genome project.

“He and his staff are passing on patient information sheets and following up with potential recruits and, if they are happy to be contacted or have questions, their details are passed on to the genomics team at UHCW for possible consent.

“It gives us the opportunity to extend the reach of the project to patients out in the community who we might not otherwise see.”

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