The Yorkshire and Humber Familial Hypercholesterolaemia service experience of implementing FH cascade testing
PHE ePoster Library. Narayanan D. Sep 10, 2018; 221338; 207
Dr. Deepa Narayanan
Dr. Deepa Narayanan
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Abstract IntroductionThe British Heart Foundation supported the implementation of a regional Familial Hypercholesterolaemia (FH) genetic testing service in Yorkshire and Humber region. The regional service was hosted at Huddersfield, Hull, Leeds and York NHS Trusts using a lead provider and a lead commissioner model.MethodsAll lipid clinic patients with the Welsh/Modified Dutch criteria network score ≥ 6 referred to the nurse led cascade testing service for FH were included in the data collection. Genetic analysis was done at the Great Ormond street Hospital laboratory by Next Generation Sequencing (NGS) for a 4 gene panel for FH. Data collection was done between May 2017-April 2018 and the demographics collected include total number of index and cascade testing, gender, age and the genetic analyses results.Results407 patients were included for FH genetic testing, 263 (153M, 110 F) index and 144 (80 M, 64F) cascades with a mean age of 50 (17-85) yrs. Data from 26 patients were excluded. The detection rate was 46.6% (n=111) in index patients, with 85.5% (n=95) LDLR, 11.8% (n=13) ApoB, 0.9% (n=1) LDLRAP1 and 1.8%(n=2) PCSK9 mutations. 10.8% (n=26) had Variant of Unknown Significance (VUS). The detection rate was 47.1 % for cascade patients.ConclusionIn our limited experience identification of FH probands showed enhanced success of cascade screening with identification of previously unscreened patients at high cardiovascular risk. Equity of access to the FH service due to commissioning arrangements and lack of outreach clinics are key areas of improvement for future consideration. External funding details British Heart Foundation
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