Updated NICE guidance published today provides an opportunity to improve diagnosis of Familial hypercholesterolaemia, as NHS England’s National Clinical Directory for Heart Disease explains.
Familial hypercholesterolaemia (FH) affects between one-in-250 and one-in-500 people, which means that approximately 130,000 and 260,000 people in the UK have the disease.
However, as many as 80% of these individuals are undiagnosed.
FH is an inherited condition, passed from generation to generation in a way that means siblings and children of a person with FH have a 50% risk of also having the disease. Most people with FH have inherited a defective gene for FH from only one parent and are therefore heterozygous.
The high blood cholesterol associated with FH leads to 50% of affected men having coronary disease by the age of 50, and 30% of women having coronary disease by the age of 60 years. This is often associated with premature heart attacks and increased mortality. As such, early diagnosis and treatment of FH is crucial, particularly as effective treatment can reduce an affected individual’s lifetime cardiovascular risk to that of someone unaffected.
FH can be diagnosed using a genetic test and I welcome the fact that the updated NICE guidance, ‘Familial hypercholesterolaemia: identification and management’, recommends that people who meet clinical criteria for FH, or are found to have a particularly high cholesterol, should be referred to a specialist service for DNA testing to confirm their diagnosis. Once an individual is confirmed as having FH, DNA testing should be used to identify affected first, second and third-degree biological relatives.
Genetic testing for FH has been available in the NHS for some time and is an exemplar of how genomic technologies are being embedded into routine care in the NHS to drive earlier detection and personalised risk assessment, treatments and interventions. However, it has yet to be systematically adopted across England.
There are a number of challenges that will need to be addressed in order to ensure effective, country-wide adoption of a stratified clinical pathway for FH including:
- The alignment of the commissioning process.
- Integration of clinical services.
- Standardisation and consistency of genetic testing processes.
- Systems to stratify patients.
- Raising awareness with both clinicians and patients.
The publication of updated NICE guidance is welcome as it provides an opportunity to raise awareness of FH and to encourage local health economies to continue development of FH services that meets the needs of patients living with it, including equitable and timely access to genetic testing.
In order to support this and to help address some of the challenges, NHS England, Public Health England, the British Heart Foundation, HEART UK and NICE are working in partnership to aid implementation of the guidelines.
As part of NHS England’s wider aim to embed a personalised medicine approach across the NHS, a comprehensive programme of work to embed a Genomic Medicine Service in the NHS is being undertaken. This approach builds on the 100,000 Genomes Project, NHS England’s Personalised Medicine Strategy and supports the aims of the Life Sciences Strategy and NHS England Five Year Forward View.
The NHS is already a global leader in genomics and in order to embed genomic medicine further in the NHS we are working to:
- Create a national network of genomic laboratories for rare disease, cancer and other conditions, working to clear common standards and protocols.
- Develop a uniform genomic testing directory to direct the commissioning system from single genes up to the level of whole-genome sequencing (WGS) and across the functional genomic pathway.
- Work with NHS Genomic Medicine Centres (set up to deliver the 100,000 Genomes Project) to further transform pathways of care and create the multi-disciplinary teams and cross professional infrastructure that will be critical for the future. This will allow clinical teams to deliver personalised treatments and interventions to improve outcomes for patients and service efficiency.
- Engage in a broader public dialogue to ensure that patients and the public are confident in the use of genomic technologies.
FH is already an exemplar of how genomic technologies can be embedded into routine patient care, ensuring that early diagnosis leads to effective treatment and direct clinical benefit to individual patients.
As the NHS continues on its journey to embed genomic medicine into routine care to deliver personalised treatments and interventions there are valuable lessons that can be gathered from understanding the challenges and approaches to introducing testing for FH in the NHS.