RARE Daily

U.K.’s NHS Launches Rare Disease Diagnosis Program

December 3, 2020

Rare Daily Staff

The digital health company Mendelian and Modality NHS Partnership unveiled what they called the biggest rare disease diagnosis program in the United Kingdom.

The new partnership, they said, will enable earlier and more efficient rare disease care for people supported by the Modality NHS Partnership who may be living with an undiagnosed rare disease.

Beginning in January 2021, Mendelian’s NHS-integrated technology will support primary care diagnosis of rare disease, throughout Modality’s extensive GP practice network. This will support more than 450,000 people through more than 45 GP practices. Modality is the largest GP super-partnership in the United Kingdom.

Rare diseases encompass more than 6,000 known conditions. Each of these conditions affects fewer than 1 in 2,000 people globally, which means that diagnosis, management, and treatment is largely unknown, even in the clinical community.

“Too many times I’ve heard the same story from patients, carers and parents—that their journey to diagnosis was long and painful. But once received, it opened many doors that led to improved quality of life,” said Will Evans, clinical lead at Mendelian. “Getting a correct diagnosis isn’t easy and doctors do everything they can to help patients: to get them on the appropriate treatment pathway, to ease symptoms, and slow disease progression.”

Photo: Will Evans, clinical lead at Mendelian

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