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.
Aims and objectives
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 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
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.
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
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.