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!