Shared learning database

All Wales FH Cascade Testing Service
Published date:
February 2014

The All Wales Familial Hypercholesterolaemia (FH) testing service was launched in September 2010. Based around the recommendations in the 'diagnosis' (1.1) and 'identifying people with FH using cascade testing' (1.2) sections of NICE clinical guideline 71, it delivers an equitable opportunity for the people of Wales to access specialist FH services, including support, counselling, genetic testing and cascade family testing.

As part of the strategy for increasing the identification and awareness of FH within primary care, several initiatives have been developed. These include: 'Finding FH in Primary Care' schemes, a web-based primary care education package and educational folders.

For clarity purposes, this shared learning example will focus on the identification aspect of the strategy and provide detail about the 'Finding FH in Primary Care' schemes.

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

Aim: To improve the identification of FH within primary care with the aim of increasing referral rates and subsequent detection of patients by the All Wales FH Cascade Testing Service.

Within the 'identification' strategy there are two aspects with associated objectives:
1. Introduction of patient searches in local pathology departments using laboratory IT systems, to identify people who have raised cholesterol and may be classified as having FH.
2. Introduction of FH specialist nurses working within primary care practices, assisting in locally based IT based searches and assessing patients within primary care.

Reasons for implementing your project

The All Wales FH Cascade Testing Service was set up based on the recommendations NICE clinical guideline 71. The service aims to diagnose 60% (3600 individuals) of those affected in Wales, over a 10 year period (2010-2020).

801 index patients were projected to be seen in the first 18 months of the service launch (October 2010 - March 2012). The actual number of people seen was 371, a shortfall of 430 (46%).

An FH 'think tank' day was arranged in September 2012 to address this and other issues. This involved all stakeholders: primary and secondary care, cardiac networks, clinical and management staff.

In concordance with the 'think tank' day, the All Wales FH Cascade Testing Service considered the NICE guidance recommendation (1.2.1) of cascade testing for the identification of people with FH. However the guideline development group identified that research is needed to compare the utility of strategies other than cascade screening to identify new index cases. This is because currently recommended strategies are likely to lead to the identification of less than 50% of the expected number of people with FH in the UK. With this information the All Wales FH Cascade Testing Service implemented a records search strategy for FH with the aim of identifying previously unknown patients. This search strategy was in addition to their established cascade testing strategy.

The NICE research recommendation 4.1 asks what the effectiveness is of using GP and secondary care registers to identify people with FH. Wales adapted the approach identified in this research recommendation to fit into their established identification systems. Using current UK diagnostic 'Simon Broome' cholesterol criteria the estimated numbers of patients generated from district general pathology records are difficult to determine. Based on searches done in North Wales, estimations for the number of patients in Wales, with total cholesterol in excess of 7.5mmols/l are 54,360, and LDL cholesterol >4.9mmols/l are 15,200. This search, although excluding family history of premature CHD, still identified the huge amount of individuals relevant to be assessed. Considering primary care's ability to manage assessment of identifying patients, a strategy was developed to search pathology records for patients with normal triglycerides and LDL cholesterol >6.5mmols/l. Numbers of people identified using this approach was more manageable at below 34 per practice.

How did you implement the project

Introduction of patient searches in local pathology departments to identify primary care patients who have raised cholesterol and may be classified as having FH:
Laboratory databases often have over 10 years of patient information held on them. Approvals were obtained locally through local senior laboratory staff and the relevant host organisation to obtain practice numbers/data on patients with LDL cholesterol >6.5mmols/l and triglycerides <2.5mmols/l. This anonymous data then was used to prioritise primary care practices, into practices with the greatest numbers of identified patients. This enabled the FH specialist nurses to prioritise practices for FH awareness sessions and additional support. This support varied dependent on need, and included supplying the practices with the identified patient data, from the initial pathology searches (to assist in further assessment of patients for referral) and also assisting in more advanced searches from within the practices. A more proactive approach in North Wales has been approved by GPs where identifiable patient data is sent to the GP practices of all patients identified with LDL cholesterol >7.5mmols/l with using the pathology searches. This can then be varied, by adjusting the target LDL Cholesterol, to identify more eligible patients, dependent on the capacity of the GP practice, and of the service to see referrals.

Introduction of FH specialist nurses working within primary care practices to assist in locally based IT and paper based searches:
Database searches can be carried out within the primary care practices so patients can be assessed on the premises. Potential patients can be identified and assessed for suitability by the FH nurse and practice staff. Suitable patients are then invited to attend their local practice for assessment of FH and suitability for genotyping for FH. This has negated the need for initial referral to secondary care to access genotyping and has had a positive impact on waiting time for new patients into lipid clinic. The difficulties of this approach was the time consuming nature of implementation, initial pilots showed that the time needed to assist practices in reviewing all patient notes of those identified either in the pathology or the practice IT searches, were considerable. A different approach was then implemented where practice staff were asked to complete the searches and send details of patients identified to the FH specialist nurses for review.

Key findings

Results and evaluation are ongoing. The new primary initiatives commenced in January 2013, and so at present it is difficult to assess their true impact. However, with projected figures based on numbers seen to date it is expected that the number of patients will increase.

01/10/2011-31/03/2011: Numbers seen: 36
01/04/2011-31/03/2012: Numbers seen: 446
01/04/2012-31/03/2013: Numbers seen: 814
01/04/2013-31/09/2013: Numbers seen: 531
31/03/2014-31/03/2013 (Projected): Numbers seen: 1062

Laboratory cholesterol searches have enabled GP practices to start with small numbers of registered patients to assess for FH. These small numbers make this achievable and effective. GPs appear to welcome the assistance of specialist nurses to identify and see patients within the community, and by working directly with primary care colleagues, awareness of FH is increased.

Cost savings have not been calculated, however increasing numbers of patients seen, educated and treated, have affected the productivity and efficiency of the FH service, by enabling more genetic screening of patients and their relatives using cascade screening. As mentioned above, these evaluations are ongoing.
Evaluation of patient satisfaction with the FH nurse-led clinics was carried out (2013). This concluded that:
- There was a low level of awareness of FH prior to attending the clinics with only 17% having heard of FH and 15% knowing what it was.
- Reassuringly all patients understood the need to be referred into the lipid clinic, and were offered the opportunity to see the FH Specialist nurse and understood all the information given at the appointment with regards to FH.
- The clinic appointment in general was rated as excellent in 76% of returned questionnaires, and overall experience of the FH service was excellent according to 82% of patients.

Key learning points

Wales have been able to implement aspects of a NICE research recommendation using the information in the guideline about where more evidence is needed and combined this with full implementation of the formal recommendations for cascade testing.

Very few approaches have been shown to be successful in identifying FH patients from primary care. The Service has worked across multidisciplinary groups to enable several approaches to be implemented. The support of the stakeholders such as consultant chemical pathologists, primary care, local health boards, cardiac networks, clinical governance and data protection leads has been crucial in the development of these initiatives and good communication is key to their success. Barriers to identifying FH are:
1. Lack of personal incentive to be diagnosed with FH
2. Lack of financial incentive for primary care to develop identification strategies
3. Time constraints
4. Patient services demographics

People with FH have generally no clinical signs or symptoms for raised cholesterol. They often are unaware of the consequences of raised cholesterol as a result of FH, rather than the well publicised implications of poor lifestyle. Increasing access to FH nurse led services, by local district general hospital clinics or GP practices, and improving referral rates into these services, overcame some of these barriers. Financial incentives for GP practices to identify people with FH in primary care are unlikely to be offered in the near future, so overcoming this barrier is challenging. We have encouraged GPs and practice nurses to take on FH as an appraisal or education topic, to support their ongoing education needs. This has met with some success, especially with the added support from the FH specialist nurses. The limited ability of just three FH specialist nurses to support all these strategies has led to a reduction in hands on activities, with more emphasis on strategic direction.

Contact details

Rhiannon Edwards
Familial Hypercholesterolaemia Clinical Specialist Nurse
All Wales FH Cascade Testing Service

Is the example industry-sponsored in any way?