Shared learning database

University Hospital of Wales
Published date:
January 2013

We have implemented a service to diagnose individuals and families with Familial Hypercholesterolaemia (FH) across Wales designed to deliver the NICE FH clincal guideline. Day to day delivery is carried out by British Heart Foundation specialist nurses and genetic counsellors working with primary care, hospital physicians and laboratory staff, working closely with a family support group.

This is linked by a dedicated IT system and coordinated by a service management team, which reports to a multi-organisational steering group.

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

Our aim was to implement a service for the diagnosis of Familial Hypercholesterolaemia(FH) on a regional (All Wales) basis, and in particular to implement a regional service for family cascade testing.

Reasons for implementing your project

FH is a single gene disorder that causes high blood cholesterol levels from birth. This leads to premature coronary heart disease. Treatment with statins and lifestyle measures restores life expectancy to normal. Approximately 1 in 500 of the population is affected. Prior to this service, individuals were suffering early onset coronary disease and nothing was being done to prevent this in other family members.

The problem was that FH was being missed because it fell between professional stools and there was lack of clarity and focus about the service that was clinically needed.

It was everybody's problem but nobody's problem. Cardiology teams would treat the premature coronary disease if the patients reached them, but not recognise the cause; physicians and medical biochemists would treat the cholesterol, but not make a genetic diagnosis or be able to follow up families; GPs and paediatricians would not be aware of the condition and would not think of it in younger people, and geneticists did not provide a DNA diagnosis because it was not a condition that they traditionally got involved with. Wales had no system for family 'cascade' testing.

Lipid (cholesterol) clinic provision was patchy and uncoordinated.

The NICE guideline on FH published in 2008 gave a blueprint that we could follow for the service that was needed for Wales.

We set up a multidisciplinary FH special interest group to engage a wide range of stake holders. We also worked with cardiac and genetic charities to help a patient and family support group. Several members of this group were willing to share their patient and family stories. This greatly increased the profile and understanding of FH with health professionals, the general public and Welsh Government. In late 2008 at a reception at the Welsh Assembly convened by the Wales FH family forum, the Health Minister pledged implement the NICE FH guideline across Wales. By 2010 we had a service up and running, supported by BHF and Welsh Government funding, and we can now report on its delivery.

How did you implement the project

We identified the need for a multidisciplinary service that had local and regional components The local components were in primary care (case recognition) and secondary care (specialist diagnosis). The regional components were DNA diagnosis and the family cascade testing.

Specific barriers to implementation were:
1. Need for multi-professional support across a range of organisations.
2. Lack of funding for genetic tests.
3. Resources to employ specialist nurses and genetic counsellors.
4. Funding and expertise for suitable IT system that met data protection and confidentiality requirements.
5. Need for an infrastructure for management and clinical governance.

We engaged clinical stakeholders across a range of professional and managerial organisations by setting up an "FH special interest group" under the oversight of Cardiac Networks Coordinating Group. A dedicated "ambassador" for the service met all the key stakeholders and worked to define the precise clinical requirements by focusing on the patient pathway for individuals and families. This was adopted as a "Map of Medicine" pathway.

We demonstrated feasibility and defined costs by carrying out pilot projects on DNA testing and the role of FH specialist nurse. We also learnt lessons from a successful service in the Netherlands and in collaboration were able to procure and adapt a bespoke IT system for FH and cascade testing.

We gained support and public profile from 3rd sector charitable organisations particularly British Heart Foundation, Heart UK and Genetic Alliance.

In October 2010 we launched a service for FH funded by Welsh Government in partnership with British Heart Foundation. The managerial aspects are hosted by the All Wales Medical Genetics Service with oversight from a multi-professional steering group.

Key findings

The FH database now includes 1147 individuals with possible FH. Of these 471 have a DNA diagnosis. Cascade testing from index patients using DNA testing has led to 222 relatives being diagnosed with FH and 181 being reassured that they do not have the condition.

A British Heart Foundation evaluation of cardiac genetic nurses demonstrated clinical and financial value from these individuals who can lead and cross link the various aspects of the service with the patient being at the centre

Key learning points

-The strong clinical and economic evidence base from NICE clinical guideline was the foundation and focus for this service implementation.
-Working across professional boundaries can be challenging. Early communications, groundwork and repeatedly making the clinical and economic case in a range of professional settings was essential to bringing clinicians and others on board.
-We found that focus on the patient pathway is key to bridging professional groups and enables development of systems and processes to deliver the required clinical outcome.
-Good IT systems and expertise are vital.
-We have found that working in partnership with 'third sector' organisations such as British Heart Foundation, Heart UK and the Genetic Alliance has been very positive not just for funding but also for expertise, training and patient focus.

Contact details

Dr Ian McDowell
Senior Lecturer and Consultant
University Hospital of Wales

Is the example industry-sponsored in any way?

This project was funded by the Welsh Assembly Government in partnership with the British Heart Foundation (BHF).