Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan. (May 2021)

• Record Type: Journal Article
• Authors: Ingoe, Lorna; Potter, Aimee; Musson, Susan; Neely, Dermot; Pilkington, Guy; Allen, A. Joy; Reay, Danielle; Luvai, Ahai; McAnulty, Ciaron; Camm, Nick; Berry, Ian; Nichols, Jody; Forbes, Gareth; Newton, Julia; Carey, Peter E.
• Is Part Of: Atherosclerosis. Volume 325(2021)
• Page Start: 38
• Page End: 45
• Publication Date: 2021-05
• Subjects: Hypercholesterolaemia -- Cardiovascular risk -- Familial hypercholesterolaemia; Arteriosclerosis -- Periodicals; Electronic journals; 616.136
• DOI: 10.1016/j.atherosclerosis.2021.03.035
• Languages: English
• ISSNs: 0021-9150

Abstract

Abstract: Background and aims: We aimed to validate a nurse-led process using electronic health records to identify those at risk of familial hypercholesterolaemia (FH) for genetic diagnosis in primary care. Methods: Those at risk of FH were identified using searches developed and refined locally and implemented in primary care by a trained nurse; they were invited for further assessment and genetic testing if indicated. Family members at risk of FH were identified and invited for cascade testing. Results: In total 94, 444 patient records were screened (expected prevalence of FH (1 in 250); 377). Of 176 records which already had a diagnostic for FH, 15 had been genetically confirmed and one was undergoing DNA testing. A further 572 (0.61%) were identified as high risk of FH. After desktop screening, 113 (15%) were invited for further assessment. Of these, 73 individuals attended the primary care clinic (64%) of whom 61 (54%) underwent proband genetic testing. Pathogenic variants were detected in 22 cases (36%) and variants of unknown significance in a further 4 cases; a total of 26 probands (43%) were therefore referred for family cascade testing. Conclusions: An optimised FH identification pathway, based on the NICE CG71 recommendations for systematic searching of primary care electronic health records, can be deployed successfully in primary care settings. Graphical abstract: Image 1 Highlights: An optimised FH pathway based on the NICE CG71 recommendations for systematic searching of primary care records, guiding confirmatory genetic testing of index cases and cascade testing of at-risk relatives can be deployed successfully in primary care settings. This strategy is most successful at detecting those with FH where accurate and comprehensive patient information is held on the care records and the search criteria are targeted.