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All Outputs (2)

Identifying, managing and supporting patients with a rare disease (2020)
Journal Article
Evans, W., McKay, L., & Qureshi, N. (2021). Identifying, managing and supporting patients with a rare disease. InnovAiT, 14(2), 92-99. https://doi.org/10.1177/1755738020974411

Rare diseases (RDs) are defined as diseases that affect less than 1 in 2000 people, 71.9% are genetic and 69.9% have symptom onset in childhood. There are an estimated 8000 rare diseases, and although individually rare, collectively they are common,... Read More about Identifying, managing and supporting patients with a rare disease.

How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners (2020)
Journal Article
R. H. Evans, W., Tranter, J., Rafi, I., Hayward, J., & Qureshi, N. (2020). How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners. Journal of Community Genetics, 11(3), 377–386. https://doi.org/10.1007/s12687-020-00457-5

Genomic technologies are having an increasing impact across medicine, including primary care. To enable their wider adoption and realise their potential, education of primary healthcare practitioners will be required. To enable the development of suc... Read More about How genomic information is accessed in clinical practice: an electronic survey of UK general practitioners.