Shared learning database

Royal Free London NHS Foundation Trust
Published date:
April 2012

The Royal Free London NHS Foundation Trust is a secondary and tertiary centre for the treatment of lipoprotein abnormalities. Within this lipid service the Royal Free Hospital provides cascade screening, including genetic testing for FH, through the FH service and associated family support centre.

Guidance the shared learning relates to:
Does the example relate to a general implementation of all NICE guidance?
Does the example relate to a specific implementation of a specific piece of NICE guidance?


Aims and objectives

To provide a FH service that focuses on identification, diagnosis and management. This service is consultant-led but is supported by a Clinical Nurse Specialist. Identification is carried out using both cholesterol and DNA testing. In order to facilitate early and appropriate management of FH and testing relatives of those affected, NICE clinical guideline 71 recommended DNA testing for people with a clinical diagnosis of FH and cascade testing their relatives using cholesterol testing and/or DNA testing. The Royal Free Hospital FH service looks to implement these recommendations by offering:

1. Early identification of people with FH.
2. Confirmation of diagnosis.
3. Cascade testing of family members using either cholesterol measurements or DNA mutation screening, where appropriate.
4. Appropriate lifestyle advice
5. Facilitating referrals into lipid clinics if needed.

Reasons for implementing your project

The Royal Free Hospital family support centre for people affected by high cholesterol was opened in January 2009 as an adjunct to the existing lipid clinic service. It was one of only 2 pilot centres in the country which was to cater for people with high cholesterol and their families. Initially the aim was to provide better awareness of having high cholesterol and its associated risks. However, as it developed, more emphasis was placed on inherited hyperlipidaemia, namely familial hypercholesterolaemia which is thought to affect 1 in 500 people in the UK. The centre is run by a clinical nurse specialist, with expertise also provided on request by other healthcare professionals such as dieticians, smoking cessation advisers and doctors. The centre provides clinical support for patients attending the cholesterol clinic, mainly in the form of cholesterol and genetic testing of family members. The centre also caters for people who believe they may be at general risk of heart disease or stroke, but have not yet been assessed or diagnosed. The centre also has a dedicated helpline for general clinical enquiries. Education is provided to help supplement the information given to patients in the clinic, covering all aspects of FH, including what cholesterol is, understanding blood results, drug treatments and lifestyle factors. Education is also offered to family members if requested.

The focus for the remainder of this case study will specifically be on the systematic development of the cascade testing service as part of the overall FH service and family support centre. Although cascade screening and was carried out previously, it was done so in an ad-hoc manner but the opening of the family support centre provided a resource which has helped systematize cascade screening.

The Royal Free Hospital was a participating site in the Department of Health cascade testing project to compare DNA testing with the more traditional cholesterol testing (2005).

How did you implement the project

The Royal Free was able to expand and improve the FH service with the appointment of a specialist nurse for FH. This role was initially funded from a grant from HEART UK. Following submission of a business case this role is now a substantive post funded by the Royal Free Hospital within the cardiology directorate.

DNA testing is carried out within the Family Support Centre. Patients are identified in the lipid clinic and are strictly assessed against Simon Broome Criteria before genetic tests are performed. Pre and Post test counselling is given. Blood samples are sent to the regional genetics laboratory at Great Ormond Street Hospital and where required, expertise is sought from a professor at University College London, who is an international expert in FH, and who was the lead clinical adviser on NICE clinical guideline 71. All activity and correspondence in relation to the test is filed / documented in the medical notes. All cascade screening data is entered into an excel spreadsheet and is backed up on a trust-encrypted hard drive. Pedigree drawing software is used. There is currently no national database for cascade screening.

Funding for genetic testing does currently not come from the NHS so testing is funded from external sources. Costing is based on carrying out a specific number of tests per year and was an agreement made between GOS and the Royal Free hospital.

Referrals to the lipid clinic are accepted from consultants, GPs and nurses of patients with possible or definite FH. Referrals may be made by choose and book or by letter to the consultant or specialist nurse and cascade screening will only take place once the referral has been made. If 'at risk' people are identified through cascade screening, the GP will be informed and a referral requested into the clinic.

Key findings

Referrals: As cascade screening is increasing, the number of referrals seems to be increasing however this has not yet been formally audited. Paediatric referrals are starting to come through as a consequence of effective cascade screening. This has led to the development of a specialist paediatric lipid clinic. The FH specialist nurse attends the clinic with the paediatrician to ensure a family-centred approach as quite often the FH specialist nurse already knows the parents.

Audit: the Royal Free Hospital submit data to the national FH audit. The results of the RCP annual FH audit are accessible here

Key learning points

In order to make best use of limited resources, we have ensured that all patients referred for genetic testing have been assessed against the Simon Broome Criteria. Potentially this helps to yield the desired results.

Engagement with charities (HEART UK) and organisations such as pharmaceutical companies has been an extremely useful starting point as this is what led to the appointment of a dedicated clinical nurse specialist.

Clinical champions have helped motivate healthcare professionals and managers to support local implementation of the service.

The development of the Family Support Centre has demonstrated to us that cascade screening is carried out more effectively outside of the lipid clinic setting, however has to remain closely linked to it.

Personally I have also found that having a specialist nurse involved in all aspects of the service (lipid clinic, paediatric clinic, DNA testing) helps to streamline the service and provides a friendlier, family-centred approach for the patients.

Contact details

Darren Harvey
Clinical Nurse Specialist
Royal Free London NHS Foundation Trust

Tertiary care
Is the example industry-sponsored in any way?