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The Wales FH Cascade Testing Initiative

The Wales FH Cascade Testing Initiative

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The Wales FH Cascade Testing Initiative

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  1. The Wales FH Cascade Testing Initiative Dr Ian McDowell

  2. FH is common • ~ 110,000 in UK • ~ 6,000 in Wales • <25% diagnosed and treated

  3. Wales FH Special Interest Group CV IRG

  4. FH Cascade Projects in Wales FH nurse Bridgend/Cardiff FH projects FH Patient Forum Genotyping FH Cascade Software

  5. Cascade Testing Pilot Cardiff - Bridgend

  6. FH Cascade Software

  7. National Screening Program Familial Hypercholesterolemia Peter Lansberg StichtingOpsporingFamiliaire Hypercholesterolemie (StOEH)

  8. Dutch database Dutch national screening programme for FH Over 45,000 family members 18,000 diagnosed with FH. Database: Pass Clinical Wales clinical pilot of database commenced 2009

  9. Key Features Pedigree drawing function Workflow management Templates and archiving Multisite working Audit and research

  10. Conclusions The Dutch wheel works well in the UK setting Essential for FH cascade testing Could be adapted for other conditions

  11. ???FH • Family Cascade Programme • Full Pedigree • Family registration • Family Tracing • Test 1st degree relatives ??FH Hospital (eg Cardiology) General Practice Lipid Clinic Cascade from relatives Clinical and lipid assessment Provisional diagnosis of FH using SB criteria Genotype positive FH  FH X Document family history FH diagnosed Referred to lipid clinic Consultation to advise on FH treatment options FH excluded in relative Genotyping Treat hyperlipidaemia Discharged from cascade programme: Continuing care Primary care (most) Continuing care Secondary care(some) Continuing care Paediatrics (some) Patient Pathway with Cascade Testing

  12. Welsh Assembly Government Cardiff and Vale NHS Trust Cardiac Networks for Wales Clinical Director All Wales Genetic Service FH professional steering group AWGS Lead genetic counsellor Senior Nurse manager FH Project Manager Data base & project administrator FH nurse (M&SW) FH genetic counsellor (S) FH genetic counsellor (N) FH nurse (SE) FH nurse (N)

  13. Familial hypercholesterolaemia Implementing NICE guidance 2008 NICE clinical guideline 71

  14. FH Cascade Programme for Wales Partnership BHF and WAG • BHF fund 3 FH nurses for 3 years • WAG other aspects+ continuation

  15. Phase 1 Project manager Patient pathway details Genotyping Software procurement Phase 2 Nurses and GC appointments Education Paediatric services Full roll out Implementation Phases

  16. Thank You!