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

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.

Clinical Care Pharmacists in Urgent Care in North East England: A Qualitative Study of Experiences after Implementation.

Our objective was to explore the implementation of a novel NHS England (NHSE)-funded pilot project aimed at deploying clinical pharmacists in an integrated urgent care (IUC) setting including the NHS 111 service. Eight integrated urgent care clinical pharmacists (IUCCPs) within the participating North East of England Trusts. Individuals participated in semi-structured 1-to-1 interviews by an experienced qualitative researcher, either face-to-face or via the telephone. Each recording was transcribed, and the five stages of framework analysis (familiarisation, identifying a thematic framework, indexing, charting, mapping and interpretation) took place to establish emerging themes. All interviews took place between November 2018-February 2019. Four higher-order themes were identified: 1. Personality Traits, 2. Integration, 3. Benefits, 4. Training. The IUCCP programme is an innovative NHSE initiative. It provides an opportunity to extend the role of clinical pharmacists into the hard-pressed clinical environment of urgent and emergency care. Our evaluation has highlighted the potential for this professional group to contribute clinically in this area. Better communications, standard operating procedures and induction will improve how individuals develop in these novel roles.