The Wales FH Cascade Testing Initiative Dr Ian McDowell
FH in Wales Ian McDowell - Heart UK
FH in Wales Ian McDowell - Heart UK
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<strong>The</strong> <strong>Wales</strong> <strong>FH</strong> <strong>Cascade</strong> <strong>Testing</strong> <strong>Initiative</strong><br />
<strong>Dr</strong> <strong>Ian</strong> <strong>McDowell</strong>
<strong>FH</strong> is common<br />
• ~ 110,000 in UK<br />
• ~ 6,000 in <strong>Wales</strong><br />
•
<strong>Wales</strong> <strong>FH</strong> Special Interest Group<br />
British Soc<br />
Human Genetics<br />
<strong>FH</strong> RCP audit<br />
CV IRG<br />
NICE <strong>FH</strong><br />
Guideline<br />
Cardiac Networks<br />
& CHD NSF<br />
Welsh<br />
Cardiovascular Society<br />
BHF<br />
Welsh Cardiac<br />
Rehab Nursing<br />
Welsh Endo<br />
& Diabetes<br />
Soc / WEDS<br />
LDL Apheresis<br />
Service<br />
SSAGCC&<br />
Welsh Chemical<br />
Path Group<br />
CESAGEN<br />
<strong>Wales</strong> <strong>FH</strong><br />
Special Interest Group<br />
Dutch<br />
<strong>FH</strong> project<br />
Public Heath<br />
Paediatrics<br />
BIMDG<br />
Clinical<br />
GeneticsAWMGS<br />
All <strong>Wales</strong> Medicines<br />
Advisory Group<br />
Molecular<br />
Genetics<br />
<strong>FH</strong> Patient<br />
Forum<br />
<strong>Wales</strong> Gene<br />
Park<br />
Genetic<br />
Interest Group<br />
HEART UK
<strong>FH</strong> <strong>Cascade</strong> Projects in <strong>Wales</strong><br />
<strong>FH</strong> nurse<br />
Bridgend/Cardiff<br />
<strong>FH</strong><br />
Patient Forum<br />
<strong>FH</strong><br />
projects<br />
Genotyping<br />
<strong>FH</strong><br />
<strong>Cascade</strong> Software
Cardiff - Bridgend<br />
<strong>Cascade</strong> <strong>Testing</strong> Pilot
<strong>FH</strong> <strong>Cascade</strong> Software
National Screening<br />
Program Familial<br />
Hypercholesterolemia<br />
Peter Lansberg<br />
Stichting Opsporing Familiaire Hypercholesterolemie (StOEH)
Dutch database<br />
• Dutch national screening programme for <strong>FH</strong><br />
• Over 45,000 family members<br />
• 18,000 diagnosed with <strong>FH</strong>.<br />
• Database: Pass Clinical<br />
• <strong>Wales</strong> clinical pilot of database<br />
• commenced 2009
Key Features<br />
1. Pedigree drawing function<br />
2. Workflow management<br />
3. Templates and archiving<br />
4. Multisite working<br />
5. Audit and research
Conclusions<br />
• <strong>The</strong> Dutch wheel works well in the UK setting<br />
• Essential for <strong>FH</strong> cascade testing<br />
• Could be adapted for other conditions
Patient Pathway with <strong>Cascade</strong> <strong>Testing</strong><br />
???<strong>FH</strong><br />
General<br />
Practice<br />
??<strong>FH</strong><br />
Hospital<br />
(eg Cardiology)<br />
Family <strong>Cascade</strong> Programme<br />
•Full Pedigree<br />
•Family registration<br />
•Family Tracing<br />
•Test 1 st degree relatives<br />
Lipid Clinic<br />
Clinical and lipid assessment Provisional<br />
diagnosis of <strong>FH</strong> using SB criteria<br />
Genotype<br />
positive<br />
<strong>Cascade</strong> from<br />
relatives<br />
<strong>FH</strong> ü<br />
<strong>FH</strong> X<br />
Document family history<br />
Genotyping<br />
Treat hyperlipidaemia<br />
Consultation to<br />
advise on <strong>FH</strong><br />
treatment<br />
options<br />
<strong>FH</strong><br />
diagnosed<br />
Referred to<br />
lipid clinic<br />
<strong>FH</strong> excluded<br />
in relative<br />
Discharged from cascade<br />
programme:<br />
Continuing care<br />
Primary care (most)<br />
Continuing care<br />
Secondary care(some)<br />
Continuing care<br />
Paediatrics (some)
Welsh Assembly Government<br />
Cardiff and Vale NHS Trust<br />
Cardiac Networks for <strong>Wales</strong><br />
Clinical Director<br />
All <strong>Wales</strong> Genetic<br />
Service<br />
<strong>FH</strong> professional steering group<br />
AWGS Lead<br />
genetic counsellor<br />
<strong>FH</strong> Project Manager<br />
Senior Nurse<br />
manager<br />
Data base & project<br />
administrator<br />
<strong>FH</strong> nurse<br />
(M&SW)<br />
<strong>FH</strong> genetic<br />
counsellor<br />
(S)<br />
<strong>FH</strong> nurse<br />
(SE)<br />
<strong>FH</strong> genetic<br />
counsellor<br />
(N)<br />
<strong>FH</strong> nurse<br />
(N)
Scoring Criteria for patients with possible Familial Hypercholesterolaemia<br />
Please note these criteria only apply for index cases, not famil y members of known genotype<br />
positive patients.<br />
Family<br />
History<br />
Physical<br />
Examination<br />
Lipid<br />
Lowering<br />
Treatment<br />
Untreated or<br />
corrected<br />
LDL-<br />
Cholesterol<br />
Concentrations<br />
(mmol/l)<br />
Fasting<br />
Triglycerides<br />
(mmol/l)<br />
•First degree relative (FDR) known with premature ( 5mmol/l<br />
•FDR with tendon xanthomata and/or corneal arcus (< 45yrs)<br />
•FDR ( 3.5mmol/l<br />
•Tendon xanthomata<br />
•Corneal arcus (< 45yrs)<br />
•Is patient on lipid lowering treatment? YES / NO<br />
oIf NO, go to Untreated LDL- Cholesterol Concentrations<br />
oIf YES, give details ……………………………………<br />
If untreated LDL-C values are unobtainable see attached sheet (Correction Factor Table)<br />
and calculate estimated value.<br />
•LDL-C > 8.5<br />
•LDL-C 6.5 – 8.4<br />
•LDL-C 5.0 – 6.4<br />
•LDL-C 4.0 – 4.9<br />
•Tg 2.5 – 3.5<br />
•Tg 3.5 – 5<br />
•Tg > 5<br />
Points<br />
minus 2<br />
minus 3<br />
minus 4<br />
Proband eligibility for <strong>FH</strong> genotyping is based on total points score<br />
Only one score from each box<br />
>8 usually eligible for genotyping<br />
6-8 eligible if funding available<br />
5 or less usually not unless exceptional circumstances<br />
Forms which are unclear, incomplete or not eligible for genotyping will be returned to the requesting clinician<br />
and the sample stored for X months for possible future use.<br />
1<br />
1<br />
2<br />
2<br />
6<br />
4<br />
8<br />
5<br />
3<br />
1
Familial<br />
hypercholesterolaemia<br />
Implementing NICE guidance<br />
2008<br />
NICE clinical guideline 71
<strong>FH</strong> <strong>Cascade</strong> Programme for <strong>Wales</strong><br />
Partnership BHF and WAG<br />
• BHF fund 3 <strong>FH</strong> nurses for 3 years<br />
• WAG other aspects+ continuation
Implementation Phases<br />
• Phase 1<br />
• Project manager<br />
• Patient pathway<br />
details<br />
• Genotyping<br />
• Software procurement<br />
• Phase 2<br />
• Nurses and GC<br />
appointments<br />
• Education<br />
• Paediatric services<br />
• Full roll out
Thank You!
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