Integrated care boards are responsible for improving how familial hypercholesterolaemia is identified and treated, with support from national genetic testing services. Once someone is diagnosed, they are cared for using national guidance, which usually involves starting cholesterol-lowering treatment early and managing it closely to reduce the risk of heart disease.

Lipoprotein measurement is not currently recommended by National Institute for Health and Care Excellence (NICE) guidance. There are currently no medications available which specifically target lipoprotein in terms of management. NHS England will look to NICE for guidance on the role of lipoprotein testing to inform cardiovascular disease (CVD) prevention policy. The National CVD Prevention Programme aims to improve the uptake of lipid lowering therapies for both primary and secondary prevention to treat people with established CVD to NICE treatment targets.

The Government is committed to reducing premature mortality from heart disease and stroke by 25% in the next 10 years. To accelerate progress on this ambition, we will publish a new Cardiovascular Disease Modern Service Framework (CVD MSF) this Spring. The CVD MSF will support consistent, high quality, and equitable care across the CVD pathway while fostering innovation, and will help to improve the detection and management of cardiovascular risk factors.

NHS England are collaborating with Leicester, Leicestershire and Rutland’s Integrated Care Board to implement an agreed model of a nurse-led, assessment and genetic testing service to increase the early identification of people with familial hypercholesterolaemia in Leicestershire. Once established, clinics will be held in primary care venues across Leicestershire with an allocated familial hypercholesterolaemia Specialist Nurse.

NHS England is reviewing the decision of the National Screening Committee on screening for familial hypercholesterolaemia and is considering how best to address the committee’s outstanding concerns. This work will be supported by an ongoing child parent screening pilot which is being implemented through the Academic Health Sciences Networks.

The Department has been supporting local areas with the recovery of the NHS Health Check programme, which includes an assessment of cholesterol. We are progressing a programme of modernisation which includes the development of a digital NHS Health Check that will include home cholesterol testing and enable more people to benefit.

The NHS Genomic Medicine Service was launched in 2018 to provide consistent and genomically informed care and treatment for patients in the National Health Service in England. This is delivered via seven NHS Genomic Laboratory Hubs (GLHs), covering the entire geography of England, who operate as part of a national network to deliver the genomic testing as outlined in the National Genomic Test Directory. The East Genomic Laboratory Hub provides and coordinates a wide range of genomic tests for the Leicestershire area. Genomic testing for Familial Hypercholesterolaemia is currently offered through the Test Directory, the testing code for this clinical indication is labelled as R134.

NHS England has data collection and monitoring systems in place across all seven NHS GLHs to support service improvements and meet with each region on a quarterly basis to monitor performance.

The Department and NHS England have not made an assessment on the potential merits of introducing a national strategy on Familial Hypercholesterolaemia (FH).

In April 2020, following a review of the evidence, the UK National Screening Committee concluded a national screening programme for FH was not recommended.

The NHS Long Term Plan has committed to expanding access to genetic testing for FH, with the ambition to improve diagnosis to at least 25% by March 2024 through the NHS Genomics Programme. The NHS Health Check, England’s cardiovascular disease (CVD) prevention programme, aims to prevent CVD among healthy adults aged 40-74 years old through earlier awareness and management of six of the top risk factors for CVD, with cholesterol among the assessed risk factors.

The Department is working with NHS England to review the progress against the commitments made in the NHS Long Term Plan, including for those relating to cardiovascular disease, cholesterol and familial hypercholesterolemia. The updated NHS Long Term Plan will be published later this year.

Each of the devolved administrations has a different approach to the delivery of genomics into the healthcare system. In England, genomic testing for familial hypercholesterolaemia is already available as part of the NHS Genomic Medicine Service through the genomic testing network of seven Genomic Laboratory Hubs for all patients in England who meet the eligibility criteria for testing as outlined in the National Genomic Testing Directory, which aligns with the National Institute for Health and Care Excellence’s guidance.

The NHS Long Term Plan sets the ambition to increase genetic testing and diagnosis of familial hypercholesterolaemia (FH) from 7% to 25% by 2024. To achieve this, the National Health Service will undertake a service evaluation of child-parent cascade screening in seven Academic Health Science Network areas in England. NHS England and NHS Improvement have provided £500,000 to enable this pilot to be implemented. The pilot will be launched in June 2021 and will test over 30,000 children for cholesterol at their one-year vaccination over the next 24 months.

This will support early diagnosis by identifying families with FH before the onset of clinical disease providing an opportunity for prevention with statin therapy and where necessary other lipid lowering drugs. NHS England and NHS Improvement are working with clinicians and patient representatives to inform on a functional FH registry and are investing an additional £335,000 on a single life-long nation-wide database.

The NHS Long Term Plan sets the ambition to increase genetic testing and diagnosis of familial hypercholesterolaemia (FH) from 7% to 25% by 2024. To achieve this, the National Health Service will undertake a service evaluation of child-parent cascade screening in seven Academic Health Science Network areas in England. NHS England and NHS Improvement have provided £500,000 to enable this pilot to be implemented. The pilot will be launched in June 2021 and will test over 30,000 children for cholesterol at their one-year vaccination over the next 24 months.

This will support early diagnosis by identifying families with FH before the onset of clinical disease providing an opportunity for prevention with statin therapy and where necessary other lipid lowering drugs. NHS England and NHS Improvement are working with clinicians and patient representatives to inform on a functional FH registry and are investing an additional £335,000 on a single life-long nation-wide database.

Public Health England develops best practice guidance for the NHS Health Check programme. NHS Health Checks help identify people with familial hypercholesterolaemia (FH) and also raise awareness of the condition by ensuring those with a cholesterol level of 7.5mmol/L or higher, or a family history of a cardiac event under the age of 60, are referred for FH assessment. In the first five years of the NHS Health Check programme, 6,864,964 of the eligible population have received a check.

Public Health England, NHS England, the British Heart Foundation, HEART UK and the National Institute for Health and Care Excellence (NICE) are working in partnership to aid the implementation of recently updated NICE guidance on familial hypercholesterolemia (FH).

A cholesterol test is included as part of an NHS Health Check. This provides a key opportunity to identify the first case of FH within a family and, in line with NICE guidance, the subsequent testing of family members including children.

The United Kingdom National Screening Committee (UK NSC) recommended against a population screening programme in 2016. The UK NSC will review the evidence for FH again in 2018/19 as part of its three-yearly cycle.

Work is ongoing to help develop pathways of care for patients once a positive diagnosis of familial hypercholesterolemia (FH) is made.

Public Health England is working with NHS England, the National Institute for Health and Care Excellence, HEART UK and the British Heart Foundation on the development of an implementation guide; expected to be published shortly. The guide is for commissioners and local health economies, and aims to help facilitate the development of local FH services, supporting better identification and management of people and families affected by FH, across England.

NHS England and Genomics England are working to reconfigure genetic services in England and this should help ensure that genetic testing is more widely available.

Public Health England (PHE) is part of a cross-organisation national familial hypercholesterolemia (FH) Steering Group, led by the National Clinical Director for Heart Disease.

PHE is working with NHS England, the National Institute for Health and Care Excellence (NICE), HEART UK and the British Heart Foundation on the development of an implementation guide which will be published in early 2018. The guide is for commissioners and local health economies, and aims to help facilitate the development of local FH services, supporting better identification and management of people and families affected by FH, across England.

A cholesterol test is included as part of an NHS Health Check. Guidance alerts practitioners conducting the check to consider the possibility of FH in line with NICE. Emerging evidence shows that compared to routine primary care practice, the NHS Health Check programme is detecting more cases of FH.

Data on the numbers of people diagnosed with familial hypercholesterolemia in England and local commissioning organisations is not centrally held.

Public Health England has established the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) which brings together data from existing regional and disease specific registries into a single register. A certain form of familial hypercholesterolemia - homozygous FH - is classified as a rare disease and so is included in NCARDRS. Further information can be found at:

https://www.gov.uk/guidance/the-national-congenital-anomaly-and-rare-disease-registration-service-ncardrs

The current National Institute for Health and Care Excellence guidance recommends genetic cascade testing for familial hypercholesterolaemia as highly cost effective. This guidance is currently under review, due to be issued in May 2017, and will take into account the latest changes to the costs of drugs and genetic tests in its revised economic modelling.

NHS England and Public Health England are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing. Specifically, FH is emphasised in the NHS England Prevention aide memoire to support Sustainability and Transformation Planning, which is available at:

www.england.nhs.uk/wp-content/uploads/2016/05/stp-aide-memoire-prevention.pdf

NHS England’s National Clinical Director for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations, including Public Health England. This group, with funding from the British Heart Foundation, has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing across the country so that more affected families can be identified. The steering group aims to develop a systems approach to the detection and management of FH.

One third of England is now covered by these FH nurses as well as cascade testing, and over the last three years more than 1,000 new people with FH have been identified.

Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.

NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the NHS might make better use of increased genetic testing.

Finally, a cholesterol test is included as part of the NHS Health Check that is mandated by the Health and Social Care Act for delivery across all local authorities in England. Revised NHS Best Practice Guidance published in February now includes strengthened guidance for detection of FH as part of the NHS Health Check. Every patient with a cholesterol test result above 7.5mmol/l (as per National Institute for Health and Care Excellence guidance) will be alerted to their general practitioner for consideration of FH in combination with other diagnostic criteria.

NHS England and Public Health England are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing. Specifically, FH is emphasised in the NHS England Prevention aide memoire to support Sustainability and Transformation Planning, which is available at:

www.england.nhs.uk/wp-content/uploads/2016/05/stp-aide-memoire-prevention.pdf

NHS England’s National Clinical Director for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations, including Public Health England. This group, with funding from the British Heart Foundation, has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing across the country so that more affected families can be identified. The steering group aims to develop a systems approach to the detection and management of FH.

One third of England is now covered by these FH nurses as well as cascade testing, and over the last three years more than 1,000 new people with FH have been identified.

Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.

NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the NHS might make better use of increased genetic testing.

Finally, a cholesterol test is included as part of the NHS Health Check that is mandated by the Health and Social Care Act for delivery across all local authorities in England. Revised NHS Best Practice Guidance published in February now includes strengthened guidance for detection of FH as part of the NHS Health Check. Every patient with a cholesterol test result above 7.5mmol/l (as per National Institute for Health and Care Excellence guidance) will be alerted to their general practitioner for consideration of FH in combination with other diagnostic criteria.

Public Health England (PHE) has established the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) which brings together data from existing regional and disease specific registries into a single register. A certain form of familial hypercholesterolemia (FH) - homozygous FH - is classified as a rare disease and so is included in NCARDRS. Further information can be found at:

https://www.gov.uk/guidance/the-national-congenital-anomaly-and-rare-disease-registration-service-ncardrs

A registry containing information about children across England affected by FH is also already in existence. There are no current plans to develop any other national patient register and database for recording people with FH. However, where a family member has been diagnosed with FH, many of the cases are being recorded using cascade system software. The recording of such data is likely to increase across England as FH services are established.

The Government has no plans to report annually on the progress made in increasing the number of people diagnosed with FH in England. However NHS England and PHE are working to raise the profile of FH and making the use of genetic testing more routine.

Public Health England (PHE) has established the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS) which brings together data from existing regional and disease specific registries into a single register. A certain form of familial hypercholesterolemia (FH) - homozygous FH - is classified as a rare disease and so is included in NCARDRS. Further information can be found at:

https://www.gov.uk/guidance/the-national-congenital-anomaly-and-rare-disease-registration-service-ncardrs

A registry containing information about children across England affected by FH is also already in existence. There are no current plans to develop any other national patient register and database for recording people with FH. However, where a family member has been diagnosed with FH, many of the cases are being recorded using cascade system software. The recording of such data is likely to increase across England as FH services are established.

The Government has no plans to report annually on the progress made in increasing the number of people diagnosed with FH in England. However NHS England and PHE are working to raise the profile of FH and making the use of genetic testing more routine.

The Government is committed to embedding the use of genomic technologies and personalised medicine in healthcare. Through significant investment the 100,000 Genomes Project and the establishment of 13 NHS Genomics Medicine Centres, the National Health Service is at the forefront of the collection and use of whole genomes sequence data on a large scale. The project covers cancer and rare diseases including familial hypercholesterolemia.

NHS England published ‘Improving Outcomes though Personalised Medicine’ on 7 September 2016:

https://www.england.nhs.uk/ourwork/qual-clin-lead/personalisedmedicine/

This document sets out the vision for embedding personalised medicine within healthcare provision and explains how the use of genomics and other diagnostics can be used to identify people most at risk of diseases such as familial hypercholesterolemia before the onset of their symptoms.

The National Institute of Health and Care Excellence has also published clinical guidelines on the identification and management of adults and children with familial hypercholesterolemia. These guidelines are currently being reviewed and updated.

NHS England and Public Health England (PHE) are working to raise the profile of familial hypercholesterolaemia (FH) and break down the barriers to genetic testing.

NHS England’s national clinical director (NCD) for heart disease chairs an FH steering group which comprises representatives from relevant stakeholder organisations. This group, with funding from the British Heart Foundation (BHF), has established FH specialist nurses in many areas of England, aimed at increasing FH cascade testing so that more affected families can be identified. The NCD has worked closely with BHF in their appointment of the FH Nurses, and with the other major charity in this field - HEART-UK. Software to support cascade testing and provide a database for FH is available and will be increasingly used in England as FH services are established.

NHS England has also identified FH as a possible condition that it could focus on as part of the work looking into personalised medicine and how the National Health Service might make better use of increased genetic testing.

Furthermore, the Healthcare Public Health Team at PHE is working in collaboration with national and local partners and experts in the field through an FH Steering Group chaired by the National Clinical Director for Cardiology, and led by the BHF, to develop a systems approach to the detection and management of FH.