The Wales FH Cascade Testing Initiative
Dr Ian McDowell
FH is common
• ~ 110,000 in UK
• ~ 6,000 in Wales
• <25% diagnosed and
treated
Wales FH Special Interest Group
CV IRG
FH RCP audit
NICE FH
Guideline
Cardiac Networks
& CHD NSF
British Soc
Human Genetics
Welsh
Cardiovascular Society
BHF
Welsh Endo
& Diabetes
Soc / WEDS
Welsh Cardiac
Rehab Nursing
SSAGCC&
Welsh Chemical
Path Group
LDL Apheresis
Service
Dutch
FH project
Wales FH
Special Interest Group
CESAGEN
Paediatrics
BIMDG
Public Heath
All Wales Medicines
Advisory Group
Clinical
GeneticsAWMGS
FH Patient
Forum
Molecular
Genetics
Wales Gene
Park
Genetic
Interest Group
HEART UK
FH Cascade Projects in Wales
FH nurse
Bridgend/Cardiff
FH
Patient Forum
FH
projects
FH
Cascade Software
Genotyping
Cascade Testing Pilot
Cardiff - Bridgend
FH Cascade Software
National Screening
Program Familial
Hypercholesterolemia
Peter Lansberg
Stichting Opsporing Familiaire Hypercholesterolemie (StOEH)
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
Patient Pathway with Cascade Testing
???FH
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General
Practice
Family Cascade Programme
Full Pedigree
Family registration
Family Tracing
Test 1st degree relatives
Hospital
(eg Cardiology)
Lipid Clinic
Clinical and lipid assessment Provisional
diagnosis of FH using SB criteria
Genotype
positive
Cascade from
relatives
FH 
FH X
Document family history
Genotyping
Consultation to
advise on FH
treatment
options
Treat hyperlipidaemia
Continuing care
Primary care (most)
Continuing care
Secondary care(some)
FH
diagnosed
Referred to
lipid clinic
FH excluded
in relative
Discharged from cascade
programme:
Continuing care
Paediatrics (some)
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
counsello
r
(S)
FH
nurse
(SE)
FH
genetic
counsello
r
(N)
FH
nurse
(N)
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.
Family
History
Physical
Examination
Lipid
Lowering
Treatment
Untreated or
corrected
LDLCholesterol
Concentrations
(mmol/l)
Fasting
Triglycerides
(mmol/l)
First degree relative (FDR) known with premature (<60yrs) CHD
(coronary heart disease)
FDR known with LDL-C > 5mmol/l
FDR with tendon xanthomata and/or corneal arcus (< 45yrs)
FDR (<18yrs) with LDL-C > 3.5mmol/l
Tendon xanthomata
Corneal arcus (< 45yrs)
Points
1
1
2
2
6
4
Is patient on lipid lowering treatment?
YES / NO
oIf NO, go to Untreated LDL- Cholesterol Concentrations
oIf YES, give details ……………………………………
If untreated LDL-C values are unobtainable see attached sheet (Correction Factor Table)
and calculate estimated value.
LDL-C
LDL-C
LDL-C
LDL-C
> 8.5
6.5 – 8.4
5.0 – 6.4
4.0 – 4.9
Tg 2.5 – 3.5
Tg 3.5 – 5
Tg > 5
8
5
3
1
minus 2
minus 3
minus 4
Proband eligibility for FH genotyping is based on total points score
Only one score from each box
>8 usually eligible for genotyping
6-8 eligible if funding available
5 or less usually not unless exceptional circumstances
Forms 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!