Hypertrophic cardiomyopathy (HCM) is an inherited and potentially deadly heart condition, yet genetic testing to identify those at risk was not routinely available in the NHS.
We wanted to change that and help establish a national cascade genetic testing service for the families of those diagnosed with, or who have died from, HCM.
Watch: how our programme is saving lives
Jim Laurence had no idea he suffered from this potentially dangerous heart condition until he received a call from a relative in Australia who’d just been diagnosed. Our short film explores his diagnosis and explains how cascade testing is helping to protect other members of his family. It also considers what healthcare professionals can do to help others like them.
What did we do?
Our funding ensured more people receive the testing, screening and treatment they need to prevent sudden death.
Our work was generously supported by a charitable fund established by the family of Sir David Frost in memory of his son, Miles, who died suddenly in 2015 of undiagnosed HCM.
The Miles Frost Fund has helped us make available £1.5 million for our programme across 13 sites in England, Wales, Scotland and Northern Ireland.
The work enhanced current Inherited Cardiac Condition Services to identify more patients with HCM via cascade testing and address unwarranted variation in access across the UK.
What is HCM?
HCM is an inherited condition that causes thickening of the heart muscle. It affects around 1 in 500 people in the UK.
Untreated, HCM can cause a range of other conditions, such as heart failure and arrhythmias, which can in the most serious cases result in sudden death.
The challenge is that most people who have the condition will show few if any symptoms and are unlikely to present to the health services.
A child of someone with the condition has a 50% chance of inheriting it. Research funded by the BHF identified some of the genes involved, allowing us to better identify those at risk. With treatment, most people can go on to lead a normal life.
How does cascade testing work?
To protect family members, if a gene fault can be identified in someone with HCM, cascade genetic testing can identify whether their relatives also carry the same gene fault responsible for causing the condition.
When the first person in a family is suspected of having HCM (the index case), they will undergo diagnostic screening – such as an echocardiogram, ECG and MRI. From this, if a cardiologist diagnoses HCM the person may then be offered genetic testing. This is where a blood sample is taken, and geneticists will try to identify the gene faults known to cause HCM.
If geneticists can identify a faulty gene in the index case, the NHS can also offer genetic testing to immediate family members – mothers and fathers, sons and daughters, brothers and sisters – to identify further individuals who’ve inherited the same genetic fault. This is a simple blood test and results are returned within a few weeks.
If a result returns positive for one person, then more first-degree relatives of that person can then be offered the test. We can continue offering genetic testing to first degree relatives of anyone carrying the genetic faults, proceeding down through generations.
This is called cascade genetic testing. It’s a powerful way of mapping and appropriately supporting everyone affected by HCM within the extended family.
But this wasn’t always delivered by the NHS for reasons including funding shortages and a lack of awareness among clinicians.
What did our programme do?
Our £1.5 million programme aimed to boost access to cascade testing services for HCM across the country by making short-term progress that could translate into long-term gains.
In 2016, the first round of funding was awarded to six Inherited Cardiac Conditions (ICC) centres in Oxford, London, Sheffield, Northern Ireland, South Wales, Glasgow and West of Scotland (NHS Greater Glasgow and Clyde, NHS Dumfries and Galloway, NHS Ayrshire and Arran, NHS Forth Valley and NHS Lanarkshire).
A second round launched in 2018 and included a further 7 sites in Southampton, Bristol, Birmingham, Leeds, Liverpool, Manchester and East of Scotland (NHS Tayside, NHS Fife, and NHS Grampian).
Fact file: HCM programme in two phases
Phase one: 2017-19
Number of sites: 6
Services began: April 2017
Total funding awarded: £700,000
Completion date: April 2019
Phase two: 2018-present
Number of sites: 7
Services began: August 2018
Total funding awarded: £800,000
Completion date: February 2021
Our sites aimed to extend and join up services to enhance genetic cascade testing. They improved their services to identify more patients and enhance access to cascade testing.
They supported funded posts to enable more efficient service delivery, and enhanced and improved collaboration across services for patients. These posts were specialist roles – including genetic counsellors, specialist genetics nurses, clinical audit roles and data analyst roles. The approach aimed to offer more timely diagnosis, high-quality care and psychological support to both patients and their families.
The programme overall also sought to engage, influence and educate GPs to identify potential patients for referral to cascade testing services.
Programme sites aimed to:
- increase the reach of cascade testing and treatment into areas previously experiencing gaps in provision
- increase the number of individuals diagnosed with HCM
- develop a robust evidence base to facilitate the spread and adoption of best practice.
In the longer term, it is hoped this will contribute to:
- increased testing, detection and treatment of individuals with HCM
- greater access to cascade testing in settings across the UK
- increased numbers of people receiving education and support to understand their condition
- the introduction of a national HCM cascade testing programme, with a supporting database
- the identification of workforce and service gaps in delivery of a national cascade testing service for cardiomyopathies
What did we achieve?
We commissioned an independent evaluation of the whole programme to help us to understand what changes this brought about and the benefit to patients.
The phase 1 evaluation report demonstrated distinct benefits for patients, as well as benefits for service staff and the wider healthcare context within which they operate.
- Phase 1 sites reported that they had increased patient access to HCM testing and cascade genetic testing as a result of the Miles Frost funding.
- Most sites also reported a range of other benefits for patients, including reduced waiting times, improved patient experience, and increased engagement of families and relatives.
- At a service level, phase 1 sites reported that they had increased their clinic capacity, improved efficiencies within the service and improved staff knowledge of HCM.
- At a wider level, the pilots were felt to have increased awareness of ICCs and specialist services and improved relationships between different centres, improving patient referrals management pathways across the system.
- Across the sites which provided cost data, costs of the service per new patient were similar (although there were variations in the quality and scope of data provided across sites)
- Sites that had agreed ongoing funding at the outset with their Trust Directorate or commissioners were optimistic about the sustainability of the new service and achievement of outcomes. Where this was not the case, other sites’ future activities rest on approval of final business cases.
Read the full Phase 1 Evaluation Report
Read the full Phase 2 Evaluation Report
Read the full Phase 1 & 2 Evaluation Reports
Check back in future for more updates on the progress of these projects and to read the final evaluation publications.