Abstract
Background and aimsWe 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. MethodsThose 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. ResultsIn 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. ConclusionsAn 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.
Highlights
Cardiovascular disease (CVD) is the leading cause of death world wide, accounting for 31% of all global deaths [1]
After exclusion of 84 patients with hypercholesterolaemia due to other causes or who were otherwise considered unsuitable on nurse-led desk top review of the patient records, 43 potentially eligible patients ranked highest with estimated Dutch Lipid Clinic Network score were invited for screening and 21 (49%) attended the outreach familial hypercholesterolaemia (FH) clinic
Of 11 patients with completed tests, 8 patients received a negative result, Variants of Un certain Significance (VUS) were identified in 2 patients and a pathogenic variant was identified in 1 patient
Summary
Cardiovascular disease (CVD) is the leading cause of death world wide, accounting for 31% of all global deaths [1]. An important under-diagnosed cause of premature CVD, coronary heart disease (CHD), is familial hypercholesterolaemia (FH) [2,3]. As many as 250,000 people in the UK may be living with the con dition, but it is estimated that only around 15,000 patients have a formal genetic diagnosis of FH [3,8]. 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. 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). 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
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