Upload
sezja
View
48
Download
0
Tags:
Embed Size (px)
DESCRIPTION
The Wales FH Cascade Testing Initiative. Dr Ian McDowell. FH is common. ~ 110,000 in UK ~ 6,000 in Wales
Citation preview
The Wales FH Cascade Testing Initiative
Dr Ian McDowell
FH is common
• ~ 110,000 in UK• ~ 6,000 in Wales
• <25% diagnosed and treated
FH RCP audit
BHF
Welsh CardiacRehab Nursing
LDL Apheresis Service
CESAGEN
Clinical GeneticsAWMGS
Molecular Genetics
Wales Gene Park Genetic
Interest Group
HEART UK
FH Patient Forum
All Wales Medicines Advisory Group
PaediatricsBIMDG
SSAGCC&Welsh Chemical
Path Group
Welsh Endo & DiabetesSoc / WEDS
Welsh Cardiovascular Society
Cardiac Networks & CHD NSF
NICE FH Guideline
Wales FH Special Interest Group
Public Heath
British Soc Human Genetics
Dutch FH project
Wales FH Special Interest Group CV IRG
FH Cascade Projects in Wales
FH Patient Forum
FH projects
FH Cascade Software
Genotyping
FH nurse Bridgend/Cardiff
Cascade Testing Pilot
Cardiff - Bridgend
FH Cascade Software
Peter Lansberg
Stichting Opsporing Familiaire Hypercholesterolemie (StOEH)
National Screening National Screening Program FamilialProgram Familial
HypercholesterolemiaHypercholesterolemia
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
Key Features
1. Pedigree drawing function
2. Workflow management
3. Templates and archiving
4. Multisite working
5. Audit and research
Conclusions
• The Dutch wheel works well in the UK setting
• Essential for FH cascade testing
• Could be adapted for other conditions
???FH
Hospital(eg Cardiology)
??FHGeneral Practice
Lipid Clinic
Genotyping
Treat hyperlipidaemia
Continuing carePrimary care (most)
Continuing careSecondary care(some)
Continuing carePaediatrics (some)
Family Cascade Programme Full Pedigree
Family registration Family Tracing Test 1st degree relatives
FH diagnosedReferred to lipid clinic
FH excludedin relative
Consultation to advise on FH
treatment options
Discharged from cascade programme:
Clinical and lipid assessment Provisional diagnosis of FH using SB criteria Genotype
positive
Cascade fromrelatives
FH FH X
Document family history
Patient Pathway with Cascade Testing
FH genetic
counsellor
(S)
FH genetic
counsellor
(N)
FH nurse
(M&SW)
FH nurse(SE)
FH nurse(N)
FH Project ManagerSenior Nurse
manager
FH professional steering groupClinical DirectorAll Wales Genetic
Service
Welsh Assembly Government
Cardiff and Vale NHS Trust Cardiac Networks for Wales
AWGS Lead genetic counsellor
Data base & project administrator
Scoring Criteria for patients with possible Familial Hypercholesterolaemia Please note these criteria only apply for index cases, not family members of known genotype positive patients.
Points
Family History First degree relative (FDR) known with premature (<60yrs) CHD
(coronary heart disease)FDR known with LDL-C > 5mmol/lFDR with tendon xanthomata and/or corneal arcus (< 45yrs)FDR (<18yrs) with LDL-C > 3.5mmol/l
1122
PhysicalExamination
Tendon xanthomataCorneal arcus (< 45yrs)
64
LipidLoweringTreatment
Is patient on lipid lowering treatment? YES / NOoIf NO, go to Untreated LDL- Cholesterol ConcentrationsoIf YES, give details ……………………………………
If untreated LDL-C values are unobtainable see attached sheet (Correction Factor Table) and calculate estimated value.
Untreated or corrected
LDL- Cholesterol
Concentrations(mmol/l)
LDL-C > 8.5 LDL-C 6.5 – 8.4 LDL-C 5.0 – 6.4 LDL-C 4.0 – 4.9
8531
Fasting Triglycerides(mmol/l)
Tg 2.5 – 3.5Tg 3.5 – 5Tg > 5
minus 2minus 3minus 4
Proband eligibility for FH genotyping is based on total points scoreOnly one score from each box >8 usually eligible for genotyping 6-8 eligible if funding available 5 or less usually not unless exceptional circumstancesForms which are unclear, incomplete or not eligible for genotyping will be returned to the requesting clinician and the sample stored for X months for possible future use.
Familial hypercholesterolaemia
Implementing NICE guidance
2008
NICE clinical guideline 71
FH Cascade Programme for Wales
Partnership BHF and WAG
• BHF fund 3 FH nurses for 3 years
• WAG other aspects+ continuation
Implementation Phases
• Phase 1• Project manager• Patient pathway
details• Genotyping• Software procurement
• Phase 2• Nurses and GC
appointments• Education • Paediatric services• Full roll out
Thank You!