Improving the identification of patients with a genetic diagnosis of familial hypercholesterolaemia in primary care: A strategy to achieve the NHS long term plan
| Autor: | Gareth Forbes, Aimee Potter, Danielle Reay, Peter E. Carey, Lorna Ingoe, Dermot Neely, Susan Musson, Ahai Luvai, Guy Pilkington, Nick Camm, C. McAnulty, Ian R. Berry, Julia L. Newton, A Joy Allen, Jody Nichols |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband Cascade testing medicine.medical_specialty Psychological intervention Nice Primary care 030204 cardiovascular system & hematology State Medicine Hyperlipoproteinemia Type II 03 medical and health sciences 0302 clinical medicine Medicine Humans Mass Screening Genetic Testing Genetic testing computer.programming_language medicine.diagnostic_test Primary Health Care business.industry 030104 developmental biology Family medicine Trained nurse Cardiology and Cardiovascular Medicine business Genetic diagnosis computer |
| Zdroj: | Atherosclerosis. 325 |
| ISSN: | 1879-1484 |
| Popis: | Objectives 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. Design 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. Clinical cohort study. Setting Nine GP practises in North East England. Participants Individuals registered on a primary care record. Interventions Those with phenotype indicative of FH were counselled and consented for genetic testing. Family members at risk of FH were identified and invited for cascade testing. Main outcome measures Number with FH identified by genetic testing and family members appropriate 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. |
| Databáze: | OpenAIRE |
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