Familial Hypercholesterolaemia genetic screening clinics

To provide a comprehensive Familial Hypercholesterolaemia (FH) service that includes identification, cascade screening using DNA analysis, treatment (including LDL apheresis) and follow-up. Also to offer paediatric and family clinics. FH is a common, treatable disease, the heterozygous form affecting approx 1:500. Despite this it remains under diagnosed and thus under treated. The objective of the FHGSC was to provide a systematic approach to identification of people with FH using DNA testing. As a result appropriate treatment, risk factor management, lifestyle modification and dietary advise could be initiated.

Prior to May 2005 patients with FH were generally identified & managed in the coronary prevention clinic at Harefield Hospital. Cascade screening of family members was rare due to lack of resources & time constraints.

In 2005, the Cardiology directorate became involved in 'The Familial Hypercholesterolaemia Cascade Testing Research Study' implemented by the DoH. During it's participation a number of people including several children, were identified & received an unequivocal diagnosis of FH. The use of cascade screening using DNA testing was felt by the directorate to be useful in the identification of people with this treatable disease & resulted in the development of a nurse led FHGSC. Service offered:
The FHGSC is currently run by a 'Cascade nurse specialist'. The service has been offered since May 2008, comprising two adult clinics per week. Since January 2011 we offer six paediatric FHGSC per year.
Referral: Letters were sent to GP's, lipid clinics (list provided by HEART UK) & trust consultants telling them about the service & referral process. Also a global trust email was sent & cardiologists & cardiac surgeons spoken to directly. Currently referrals are received from consultant cardiologist (coronary prevention clinic), local lipid clinics, GP's, cardiology department & cardiac rehabilitation team. Initially referral from the trust cardiology department was slow but has improved since the introduction of ward rounds by the cardiology nurse consultant for patients post PCI at Harefield Hospital. The local lipid clinic consultants refer differently, one direct to the service, the others request the GP sends the referral. Enquires from GP's reluctant to refer family members of index patients with a confirmed genetic diagnosis of FH are few and are discussed with the GP's referencing the NICE guidance. Educational sessions for interested GP's & practice nurses, supported by the pharma industry have also proved useful in promoting the service.

Funding - A business case was presented to the director of operations resulting in the trust's agreement to fund a full time band 7 cascade nurse for the service.

Funding for genetic screening - The genetic screening service is provided by The Regional Molecular Genetics Laboratory Great Ormond Street Hospital NHS Trust (GOSH). Initial funding was derived from an allocation to GOSH for genetic screening from the North West Thames Regional Health Authority. This funding ceased in Apr 2009 but as a result of the trust's commitment to the service, a decision was made to meet the costs until alternative sources were secured. Meanwhile the director of service development agreed a local prive structure, funding the service & making PCT's aware of its inclusion in contracts. Since Apr 2010 the costs have been met by the PCT's.

Outpatient Clinic - Paediatric patients were initially seen in the adult coronary prevention & FHGS clinics. However in order to meet the standards within the 'National service framework for children, young people & maternity services 2004' a need to change outpatient provision for paediatric patients was identified.

Patients are seen in a one off outpatient visit, results being given via the telephone or letter. This reduces the time commitment for patients, outpatient availability & PCT costs.

Extended role-The service is run by a part-time band 7 nurse (30hrs week). Whilst there is an income generated from the outpatient visits this does not cover costs. Therefore the specialist skills & expertise of the nurse are utilised in the follow up of patients with FH within the coronary prevention clinic. Not only does this reduce clinic waits but allows for structured follow up of this group with reinforcement of lifestyle advice & risk factor management. Also there is the opportunity to review the cascade screening of each family & a continuity of care.

Database-currently there is no formal database due to financial constraints. Data is collated on an excel spreadsheet and an old version of pedigree drawing software.

Involvement in the National Audit of the management of Familial Hypercholesterolaemia 2010, not only provided favourable results for the management of FH within the trust, but also played a role in highlighting areas for improvement and thus a lever to service development.

Results and evaluation:
Results- inclusive of the DOH study
Patients screened = 541 Families = 404
Waiting results 14(3%), Patients confirmed diagnosis = 165 (31%)
Families confirmed diagnosis = 92 (24%)

Age range 4-10 years = 12
11-20yrs = 21
21-30yrs = 19
31-40yrs = 29
41-50yrs = 33
51-60yrs = 30
>60yrs = 21
Results clearly demonstrate that a number of people have been identified with FH who would have otherwise potentially remained undetected and therefore at higher risk of developing CVD.

Patient satisfaction with the service is currently being evaluated.

Success in developing a service such as the FHGSC relies on a number of factors:

-Support of the service by management, clinicians and colleagues is essential and can be achieved by a clear understanding of the service.
-A business/clinic plan developed following consultation with relevant parties and individuals with experience of starting a service in the organisation is required.
-Consideration to clinic time and its availability is essential, particularly in the early stages of development.
-A need for flexibility and a willingness to explore alternative avenues is always helpful.
-Reluctance to change & clinic availability were initially problematic, but with support from the paediatric outpatient sister and adult outpatient manager paediatric/family clinics were established in the paediatric outpatient department Jan 2011.

I have found the use of a clinic proforma very useful and an aid to data collection for audit purposes. Data collection needs to start at the inception of the service and continued in a systematic way, in order to provide data for audit purposes.