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Meeting Title

Commissioning Committee (Joint Committee) - Meeting in Public

Date Thursday 18 February 2021

Meeting no. 5 Time 1:00pm – 1:45pm

Chair Ms Gillian Adams Independent Lay Member West Leicestershire and Rutland CCG

Venue / Location

MS Teams

REF AGENDA ITEM ACTION PRESENTER PAPER TIMING

CCP/21/09 Welcome and Introductions

Gillian Adams 1:00pm

CCP/21/10 Apologies for Absence

To receive

Gillian Adams verbal 1:00pm

CCP/21/11 Notification of Any Other Business

To receive

Gillian Adams verbal 1:00pm

CCP/21/12 Declarations of Interest on Agenda Topics To

receive Gillian Adams verbal 1:00pm

CCP/21/13 To receive questions from the Public in relation to items on the agenda only

To receive

Gillian Adams verbal 1:00pm

CCP/21/14 Minutes of the Commissioning Committee (CC) meeting held on 21 January 2021

To approve

Gillian Adams A 1:05pm

CCP/21/15

Matters Arising from Commissioning Committee (CC) meeting held on 21 January 2021 – The action log is not included as actions were cleared at the meeting held on 17 December 2020

To receive

Gillian Adams B 1:10pm

ITEMS FOR DECISION, ACTION AND ESCALATION

CCP/21/16 East Midlands Familial Hypercholesterolaemia Service

To approve

Julie Stone C 1:15pm

CCP/21/19 Items of any other business.

To receive

Gillian Adams 1:45pm

The next meeting of the Commissioning Committee will take place on Thursday 18 March 2021

A

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Paper A LLR CCGs’ Collaborative Commissioning Committee meeting

21 January 2021

Page 1 of 2

Minutes of the LLR CCGs’ Public Commissioning Committee meeting held on Thursday 21 January 2021 at 1:00pm via MS Teams

Present: Mrs Gillian Adams Ms Fiona Barber

Mr Zuffar Haq Dr Vivek Varakantam Professor Mayur Lakhani

Independent Lay Member, West Leicestershire CCG (Chair) Independent Lay Member, East Leicestershire and Rutland CCG(Chair) Independent Lay Member, Leicester City CCG Clinical Chair, East Leicestershire and Rutland CCG Clinical Chair, West Leicestershire and Rutland CCG

Ms Nicci Briggs Mr Ket Chudasama Dr Andy Ahyow

Dr Avi Prasad Ms Rachna Vyas

Executive Director of Finance and Corporate Governance, LLR CCG Deputy Director of Strategy and Planning, LLR CCG (Deputising for Sarah Prema) GP Member Practice Representative, East Leicestershire and Rutland CCG Assistant Clinical Chair, Leicester City CCG Executive Director of Integration and Transformation, LLR CGGs

In attendance: Ms Lynnette Farmer

Executive Assistant to Executive Director of Strategy and Planning (Observing)

PUBLIC GALLERY

The meeting was not attended by any members of the public

ITEM LEAD RESPONSIBLE

CCP/21/01 Welcome and Introductions Ms Gillian Adams welcomed the Committee members and the members of public to the meeting of the Commissioning Committee held via MS Teams.

CCP/21/02 Apologies for absence:

Ms Caroline Trevithick, Executive Director of Nursing, Quality

and Performance LLR CCGs

Ms Sarah Prema, Executive Director of Strategy and

Planning, LLR CCG

Dr Nil Sanganee, Vice Clinical Chair, West Leicestershire

CCG

Professor Azhar Farooqi, Clinical Chair, Leicester City CCG

The meeting was confirmed as being quorate to conduct the business of the committee.

CCP/21/03 Notification of Any Other Business Ms Adams confirmed that she had not received notification of any other business for discussion.

CCP/21/04 Declarations of Interest Ms Adams reminded members of their obligation to declare any interest they may have on any business arising at the meeting which

Paper A LLR CCGs’ Collaborative Commissioning Committee meeting

21 January 2021

Page 2 of 2

ITEM LEAD RESPONSIBLE

might conflict with the business of NHS Leicester City CCG, East Leicestershire and Rutland CCG or West Leicestershire CCG. Each CCG maintains a conflicts of interest register and any declarations raised at this meeting will be documented in the minutes of the meeting and action(s) will be taken to manage the conflict(s) at the meeting in in line with the conflicts of interest policy. There were no other specific conflicts of interest declared. It was RESOLVED to:

NOTE the conflicts of interest declared and actions taken.

CCP/21/05 To receive questions from the Public in relation to items on the agenda. There were no questions received in advance of the meeting from members of the public in relation to the items of the agenda.

CCP/21/06 To APPROVE Minutes of the Commissioning Committee (CC) meeting held on 17 December 2020 (Paper A) The minutes of the Commissioning Committee held on 17 December 2020 were recorded as a true record of the meeting. It was RESOLVED to:

APPROVE the minutes of the Commissioning Committee meeting

held on 17 December 2020.

CCP/21/07 To RECEIVE Matters Arising from Commissioning Committee (CC) meeting held on 17 December 2020 (Paper B) It was RESOLVED to:

RECEIVE the matters arising.

CCP/21/08 Any other business: Meeting concluded at 1:04pm Committee members, the member of public and the presenters left the meeting call.

Date of next meeting: The date of the next LLR CCGs’ Collaborative Commissioning Committee will be held on Thursday 18 February 2021 at 1:00pm

B

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C

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Name of meeting: LLR CCGs’ Commissioning Committee meeting

Date: 18 February 2021

Paper: C

Public

Confidential

Report title:

East Midlands Familial Hypercholesterolaemia Service

Presented by: Julie Stone, Senior Cancer Services Manager

Report author: Julie Stone, Senior Cancer Services Manager

Executive lead: Rachna Vyas- Exec Director of Integration & Transformation

Action required: Receive for information only:

Progress update:

For assurance: For approval / decision:

Executive summary:

1. This paper presents a business case developed by the NHSE/I CVD Clinical Network for the LLR CCGs to support a nurse led Familial Hypercholesterolaemia (FH) genetic screening service across the East Midlands

2. FH is an inherited genetic condition where people have a high level of cholesterol in their blood, which leads to a greater than 50% risk of coronary heart disease in men (by age 50) and 30% in women (by age 60). Early diagnosis and treatment with statins reduces the CHD risk along with non-elective activity and premature mortality.

3. FH services across the East Midlands and LLR do not currently meet the NICE Guideline CG71,NICE Quality Standards (QS41) and DoH - Best Practice Guidance CVD Outcomes Strategy (DH 2013)

4. In addition, the NHS Long Term Plan specifically sets out the need for expanding genetic testing for FH, with a national target of diagnosing at least 25% of people with FH by 2023. The FH population in LLR is estimated to be 4,647 of which only 7% are likely to be diagnosed.

5. The new service will be hosted by University Hospitals Leicester following an Expression of Interest (EOI) award process. The host organisation will provide governance, administration, nursing, management and IT support to the team of nurses working across the East Midlands Region.

6. FH nurses will run peripatetic clinics in the East Midlands region, each nurse covering the populations served by a number of lipid clinics, to optimise equity in geographical access and service efficiency. They will undertake provision of the regional screening service in primary care settings rather than acute hospital settings to deliver care closer to patient needs, ensure maintenance of close links to the patient’s primary care provider and minimise costs.

7. The report requests approval for the LLR CCGs to invest a total of £9768 in year 1 as a top up to the NHSE funding of £71,000 and to recurrently fund the service in year 2 onwards at a cost of £79,749.

Appendices: Appendix 1 – NHSE/I Business Case for East Midlands Familial Hypercholesterolaemia Service

Recommendations:

The LLR CCGs’ Commissioning Committee is asked to:

RECEIVE the paper and supporting NHSE/I business case to implement a regional East Midlands Hypercholesterolaemia Service.

NOTE: That this paper is to request approval for a revised service delivery model and investment previously approved by CCB in March 19;

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Aligned to Strategic Objectives

Leicester City CCG West Leicestershire CCG East Leicestershire and Rutland CCG

Implications

a) Conflicts of interest:

None

b) Alignment to Board Assurance Framework

N/A

c) Resource and financial implications

Supporting the implementation of a regional FH service across the East Midlands will require the LLR CCGs to;

invest £9768 in year 1 (2021/22) with the remaining £71000 funded from NHSE

Recurrently fund the service in year 2 onwards at a cost of £79,749 per STP. After which the service will be reviewed for effectiveness and future commissioning plans.

d) Quality and patient safety implications

Implementing this service will ensure LLR meet the NICE Guideline CG71,NICE Quality Standards (QS41) The current services for patients lack regional co-ordination; care is fragmented, with no agreed pathway, standards or protocols or systematic cascade testing either by genetic typing or by cholesterol measurement. Benefits from initiatives to find cases of FH include a reduction in premature deaths from heart disease; a reduction in long-term morbidity and its associated costs; and the benefits to families no longer trapped in a cycle of premature heart disease.

e) Patient and public involvement

This business case is based on the West Midlands FH service model which has been refined with patient and stakeholder feedback.

f) Equality analysis and

Provision of this service model for a nurse led Familial Hypercholesterolaemia (FH) genetic screening service across the East

NOTE: That approval to invest in this regional service; o will ensure that the LLR CCGs are compliant with NICE guidelines

and the long term plan target to diagnose 25% of FH cases through genetic testing by 2023;

o has a potential cost avoidance based on avoidable heart attacks per year of between £71,284 - £241,662.

APPROVE: The proposed East Midlands model of care (Option 2) for the identification and management of FH.

APPROVE: Funding of the service using NHSE one off funding in year 1 (2021/2022) of £71000 plus a CCG/STP top up of £9768 and to recurrently fund the service in year 2 onwards at a cost of £79,749 per STP.

Approve the LLR CCGs becoming the lead commissioner for this service as a result of University Hospitals Leicester being appointed as the East Midlands host organisation or the service.

Report history and prior review:

Original Business case for a Nurse-led FH Service in Leicester, Leicestershire and Rutland STP was presented and approved at CCB on the 21st March 2019

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due regard Midlands should not create any equality issues. Case Finding will follow the NICE recommended eligibility criteria and referrals will be received from all specialities to include Lipid Consultants who will have heritage lists of patients with clinically diagnosed FH. Referrals will also be received from General Practice either opportunistically such as following an NHS Health Check or annual review or via clinical system searches to identify eligible patients. Referrals from any other speciality where patients meet the eligibility criteria will also be accepted such as cardiac rehabilitation for patients following an acute event. There will be equal priority given to referrals from all specialities. All patients (adult and paediatric) will be eligible to access the service if they have a clinical diagnosis of possible or probable FH and will be risk assessed using the Welsh scoring criteria1 ensuring that only patients at high risk of FH are tested.

1 https://fhwalescriteria.co.uk/assistant.html

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East Midlands Familial Hypercholesterolaemia Service

1. Background

1.1 Familial Hypercholesterolaemia (FH) is an inherited genetic condition where people have a

high level of cholesterol in their blood, which leads to a greater than 50% risk of coronary

heart disease in men (by age 50) and 30% in women (by age 60). Early diagnosis and

treatment with statins reduces the CHD risk along with non-elective activity and premature

mortality.

1.2 The NHS Long Term Plan (Cardiovascular disease, page 62, section 3.68) specifically sets

out the need for expanding genetic testing for FH, with a national target of diagnosing at least

25% of people with FH by 2023.

1.3 In addition, the NHS RightCare Optimal Pathway highlights FH as one of the 6 high risk

cardiovascular disease (CVD) conditions that are currently underdiagnosed and insufficiently

managed.

1.4 FH services across the East Midlands and LLR do not currently meet NHS Long Term Plan,

NICE Guideline CG71, NICE Quality Standards (QS41) and DoH - Best Practice Guidance

CVD Outcomes Strategy (DH 2013)

1.5 Based on PH and NHSE estimates there are 4,647 people affected by FH across LLR, of

which only 7% are likely to be diagnosed leaving 4322 undiagnosed.

2. Additional Context

2.1. In March 2019, an NHSE developed business case was approved by CCB to implement an

STP wide nurse led FH service. However in February 2020, based on the advice from the

clinical network and approved by NHSE it was agreed by the East Midlands FH steering

group to revise the delivery model, this along with Covid-19 has delayed the development of

a revised business case.

2.2. The previous business case proposed that a nurse would be employed by each STP;

however, this has been revised to reflect the West Midlands model which works very

effectively where all nurses are employed by one host provider thus creating team cohesion

and resilience to cover sickness, holiday etc. For the East Midlands, the host provider

organisation will be University Hospitals Leicester awarded following an expression of interest

process.

2.3. Barriers to developing FH services up to now have included the cost of genetic testing which

are approximately £250 per index case and £90 per cascade test. However, the cost of

genetic testing for FH is now funded centrally by NHSE since the configuration of Genomic

Laboratory Hubs.

3. Current Service in Leicestershire

3.1. UHL runs a specialist consultant-led Lipid Clinic. Patients with possible FH incidentally

detected in primary care (on the basis of LDL levels) are currently referred to the Lipid Clinic

in an ad-hoc manner. These patients are treated in the clinic and advised of the need that

their first degree relatives’ be informed and their lipid levels tested. In some instances the

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Lipid Clinic, based on the patients wishes, send letters to the patients relatives, informing

them of the condition and its implications. However this pathway is not compliant with NICE

guidelines which recommends proactively identifying cases of FH and subsequent DNA

testing, the cascade genetic testing of their families and referral to a specialist FH service that

includes patient counselling.

4. Proposed Service Model

4.1. The business case developed by the NHSE/I CVD network and East Midlands FH Steering

group recommends the development of a primary care focussed Nurse-led FH genetic

screening services across the East Midlands.

4.2. This is a new service; there is currently no programme to support cascade testing to identify

people with FH within East Midlands (apart from North Derbyshire).

4.3. The regional approach will maximise quality across the region and minimise costs. This

option will benefit the East Midlands population by offering those identified at risk of FH the

ability to be diagnosed locally, as close to where they live as possible, and receive treatment

which will reduce premature death, reduce cardiovascular events and long term CVD

morbidity.

4.4. It is proposed that a cohort of specialist FH nurses will run peripatetic clinics in primary care

across the East Midlands region, each nurse covering the populations served by a number of

lipid clinics, to optimise equity in geographical access and service efficiency.

4.5. Clinicians will have direct access to genetic testing via the Nurse-led service without the need

to go through secondary care Lipidologists.

4.6. This model of service delivery is currently running successfully across the West Midlands

4.7. University Hospitals of Leicester have been successful in an expression of interest to become

the host organisation for the East Midlands Familial Hypocholesterolaemia Service. This will

involve the trust recruiting a regional Programme Manager/Lead Specialist Nurse (Band 8a)

5x FH Specialist Nurse (1 for each STP footprint) and Administration (Band 4).

4.8. The costs of the service also include Clinical Supervision (0.5PA per week) which will be

provided by Dr Hrushikesh Divyateja Consultant in Metabolic Medicine and Chemical

Pathology at Nottingham University Hospitals. Dr Divyateja is clinical lead for the

implementation of the East Midlands FH service.

4.9. The East Mids FH steering group have requested that LLR CCGs become the lead

commissioner of the service, as part of their management of the UHL contract

Figure 1. Geography covered by the East Midlands FH Service

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Bloods taken and sent to lab via Royal Mail (8 weeks for index results and 4 weeks for cascade results)

Give patient family history form and advise to return at results appointment

Pathogenic variant Variant Uncertain Significance (VUS) No variant identified

MDT discussion (if required)

Send positive results letter to patient and copy of lab results.

Enclose family history form with

results letter. Indirect contact letters given to

index patient at results appointment.

Cascade testing initiated for family members identified on

family contact form as per cascade SOP.

Send VUS results letter to patient and copy of lab results.

Include follow-up appointment

details to discuss results (refer to index SOP)

Include follow-up app

Send negative results letter to patient and copy of lab results.

Include patient information leaflet

if appropriate.

Offer telephone contact if needed.

Refer to Appropriate Specialist by letter. Send summary letter to GP

and copy to patient.

Refer back to GP with summary letter and copy to patient.

Refer to Appropriate Specialist by letter. Send summary letter to GP

and copy to patient.

Health check providers refer patient to GP

Cascade referral – use GP cascade letter

Proactive case finding by GP to identify

patients ‘at risk’ of FH

Patient self-refers to GP

Patient seen by GP (or Lipid Consultant). FH indicated

Referral criteria met, referral form completed

Cholesterol greater than or equal to 9.0mmol/L

(automatically eligible for genetic testing

Cholesterol greater than 7.5 but less than

9.0mmol/L (may be eligible but will require risk

stratification by FH nurse using Welsh scoring

criteria)

GP to email referral form to FH nurses with patient consent

Incomplete or inappropriate referral forms to be returned to GP. Discuss referral with Clinical Lead for FH Service if advice required.

FH nurse to make contact with the patient by sending first invitation letter and patient information leaflet.

Patient does not contact FH service following invitation

letter or patient DNA’s appointment.

Refer to DNA pathway

Appointment confirmation letter sent to patient with full details of clinic venue

Patient attends FH clinic for first appointment

Refer to index case SOP for clinic process

All information entered onto FH database

Genetic consent form and patient pedigree scanned and

uploaded to FH database

Provide patient feedback form and pre-paid envelope

Nurse

Consultant

GP

MDT

East Midlands Familial Hypercholesterolemia Service Pathway

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5. Cost of the service

5.1. The cost to each East Midlands STP/ICS of implementing a regional FH service which covers

FH nurses (Clinical Programme Manager for the region and one WTE FH nurse per STP),

consumables, accommodation and IT is £80,768 in year 1 and £79,749 in year 2.

5.2. Each STP in the East Midlands will contribute an equal share as detailed above, however in

year 1, NHSE have funded £71,000 per STP, and therefore investment required from each

STP in year 1 is £9768. See table 1 below.

5.3. It is proposed that the costs in year one and year two are funded by the East Midlands

STP/ICS after which the service will be reviewed for effectiveness and future commissioning

plans.

Table 1: Cost and Investment required from each STP to fund the Service

Year Cost/Investment

required from

each East Mids

STP/ICS

NHSE

Implementation

funding

Total cost of the

service per STP

Total cost of a

regional service

Year 1 £9768 £71,000 £80,768.00 £403,840.00

Year 2 £79,749 £0 £79,749.25 £398,746.25

6. Savings on avoided costs

6.1. In familial hypercholesterolaemia, the absolute risk of first onset of coronary heart disease is

11/10,000 person years in statin treated patients compared with 119/10,000 person years in

untreated patients. Given this, if we were able to treat all FH cases across LLR we would

prevent 50 cases of CHD per year.

6.2. Based on national HRG costs (between £1,420 and £4,814) for non-elective admission with

Myocardial Infarction, LLR would see a potential cost avoidance of £71,284 - £241,662 in

secondary care as a result of preventing patients being admitted to hospital with a heart

attack. However, these savings do not include the additional prescribing costs of more

patients being managed in primary care which in the main will be with Statins.

7. Recommendations

The LLR CCGs’ Commissioning Collaborative Committee is asked to:

RECEIVE the paper and supporting business case to implement a regional East Midlands Familial Hypercholesterolaemia Service.

NOTE: That this paper is to request approval for a revised service delivery model and investment previously approved by CCB in March 19;

NOTE: That approval to invest in this regional service; o will ensure that the LLR CCGs are compliant with NICE guidelines and the long term plan

target to diagnose 25% of FH cases through genetic testing by 2023; o has a potential cost avoidance based on avoidable heart attacks per year of between

£71,284 - £241,662.

APPROVE: the proposed East Midlands model of care (Option 2) for the identification and management of FH.

APPROVE: Funding of the service using NHSE one off funding in year 1 (2021/2022) of £71000 plus a CCG/STP top up of £9768 and to recurrently fund the service in year 2 onwards at a cost of £79,749 per STP.

Approve the LLR CCGs becoming the lead commissioner for this service as a result of University Hospitals Leicester being appointed as the East Midlands host organisation or the service.

NHS England and NHS Improvement 8

Document filename: East Midlands Familial Hypercholesterolaemia Service Business Case

Project/programme/ Name East Midlands Familial Hypercholesterolaemia Service

SRO - TBC PM - Elizabeth Fennell - NHSE/I CVD Clinical Network

Elaine George – Clinical Manager WMFHS

Business Case East Midlands Familial Hypercholesterolaemia Service

NHS England and NHS Improvement 1

Document management

Revision history Version Date Summary of changes

V0.1 06/12/18 New document

V0.2 10/12/18 Content development

V0.3 20/12/18 For comment by clinical leads

V0.4 09/01/19 Clinical Lead comment

V0.5 18/01/19 Final Draft

V0.6 31/01/19 FINAL

V0.7 26/11/2020 Revised due to delivery model change and Covid19 delay

V0.8 14/12/2020 For comment by commissioning leads

V0.9 17/12/2020 Revised following commissioning lead comments

Reviewers This document must be reviewed by the following people:

Reviewer name Title/responsibility Date Version

Dr Hrushikesh Divyateja

Clinical Service Lead - East Midlands Familial Hypercholesterolaemia Service

30/11/2020 7

Document control The controlled copy of this document is maintained by NHS England and NHS Improvement. Any copies of this document held outside of that area, in whatever format (e.g. paper, email attachment), are considered to have passed out of control and should be checked for currency and validity.

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Contents

1. Executive Summary ............................................................................................ 3

2. Introduction .......................................................................................................... 4

3. Case for Change ................................................................................................. 6

3.1 Strategic Direction ............................................................................................. 7

4. The Recommendation ......................................................................................... 8

4.1 Proposed Pathway .......................................................................................... 10

5. Models of Care .................................................................................................. 12

5.1 Proposed East Midlands Model ................................................................... 13

5.2 Referral for Testing ...................................................................................... 13

5.2 Eligibility Criteria .......................................................................................... 14

6. Financial Case ................................................................................................... 15

6.1 Avoided Costs ............................................................................................. 15

7. The Management Case ..................................................................................... 18

7.1 Options for consideration ............................................................................. 18

7.2 Benefits of the Model ................................................................................... 19

7.3 Recommendations ....................................................................................... 20

7.4 Engagement and Communication with Stakeholders .................................. 21

8. Case Study ........................................................................................................ 21

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1. Executive Summary Familial Hypercholesterolaemia (FH) is a genetic condition that causes high cholesterol and coronary heart disease, often resulting in premature Coronary Heart Disease (CHD), Myocardial Infarction (MI) and early mortality. Patients with FH will have abnormally high total cholesterol and LDL Cholesterol from birth. FH is a relatively common genetic disorder and the estimated prevalence is 1 in 250, suggesting 240,000 affected individuals in Britain. The condition is massively under diagnosed with The NHS Long Term Plan using a figure of only 7% of people diagnosed with FH through genetic testing. FH leads to a greater than 50% risk of coronary heart disease in men by the age of 50 years and 30% in women by the age of 60 years. However, early treatment with statins reduces the CHD risk and therefore reduces the financial burden of cardiovascular events on health and social care as well as reducing premature mortality. FH Services across the East Midlands do not currently meet:

NHS Long Term Plan

NICE Guideline CG71

NICE Quality Standards (QS41)

Department of Health - Best Practice Guidance CVD Outcomes Strategy (DH 2013)

The NHS Long Term Plan sets a target to diagnose 25% of FH cases through genetic testing by 2023 which, for the East Midlands is 4,854. To meet this ambition, the East Midlands region requires the development and implementation of an FH assessment and genetic testing programme across the 4 Sustainability and Transformation Partnerships (STP) and one Integrated Care System (ICS) areas that make up the East Midlands region. Currently, there is huge variation across the country with FH service delivery, however, a nurse led genetic testing service already covers the West Midlands Region and the development of a genetic testing service in the East Midlands would enable the entire Midlands Region to meet the NHS long term plan target of diagnosing 25% of FH patients. Both services would cover a population in excess of 10 million patients, however, currently FH genetic testing is currently unavailable for East Midlands thus creating a ‘postcode inequity’ across the Midlands region. The preferred option is to develop Nurse-led FH genetic screening services across the East Midlands. This option will benefit the East Midlands population by offering those identified at risk of FH the ability to be diagnosed locally, as close to where they live as possible, and receive treatment which will reduce premature death, reduce cardiovascular events and long term CVD morbidity. This will also prevent families being trapped in a cycle of premature heart disease as a result of FH. It will reduce the incidence of, and therefore the cost of treatment and management of cardiovascular events. Funding provided to CCGs within an STP should be used to establish a primary care focussed delivery model but with secondary care support for complex patients and paediatric patients.

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The cost of implementing an FH service in each STP area is £80,768.00 in year 1 and £79, 749.25 in year 2 to cover costs of the FH Nurses (including programme manager), consumables, accommodation and IT. The business case for this service was previously approved by the STP’s/ICS but has been revised due to a change in delivery model agreed by all STP’s/ICS across the region. The previous business case proposed that a nurse would be employed by each STP/ICS; however, this has been revised to reflect the West Midlands model which works very effectively where all nurses are employed by one host provider thus creating team cohesion and resilience to cover sickness, holiday etc. For the East Midlands, the host provider organisation will be University Hospitals Leicester awarded following an expression of interest process. The East Midlands NHSE Diabetes with Vascular Disease Clinical Network supported the STP’s/ICS by providing £71,000 funding to pump prime the service and establish a Nurse-led FH genetic testing service and implement a primary care-focused FH Service across each STP/ICS. Due to the delay because of the revision to the delivery model it was agreed that this funding was carried forward to support the development of the service and it is anticipated that this funding will be used to support year 1 with the expectation that the additional £9,768.00 in year 1 and the entire funding for year 2 will be provided by the STP’s/ICS. This equates to £89,513.25 for two years’ service provision. Costs are also avoided as more people with suspected FH are genetically detected and managed. This is due to the avoidance of cardiovascular events over time and these are outlined further on in the business case. It must also be borne in mind that the costs related to identification of patients of FH are non-recurrent. Once all families have been screened for FH and diagnosed, there would be no recurrent costs incurred in screening the general population. FH is predictably inherited as an autosomal dominant condition and so only future offspring would need to be screened. The nurses will run peripatetic clinics across primary care and address the detection and management of FH in people who are currently not diagnosed and will ensure that they and their relatives are offered and receive genetic testing for FH. This will help to reduce the burden on health and social care services by avoiding CVD events in the longer term and improving the quality of life for many people across the region. Both the NHS Long Term Plan and NHS RightCare give primacy to preventing cardiovascular events: tackling FH as one of the causes of premature mortality and premature cardiovascular events is pivotal to achieving this. The weight of clinical evidence strongly supports the effectiveness of DNA index and cascade testing for individuals at risk of having the genetic disorder FH and will prevent families from being trapped in a cycle of premature heart disease.

2. Introduction Cardiovascular Disease (CVD) is a leading cause of death in the UK2 and 85% of all CVD deaths are due to Myocardial Infarctions (heart attacks) or strokes. 2 NHS Long Term Plan https://www.longtermplan.nhs.uk/

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Healthcare costs relating to CVD are estimated at £9 billion. Overall CVD costs the UK economy ~£19 billion each year. More than 100,000 hospital admissions in the UK are due to heart attacks – that’s one admission every 5 minutes. The NHS Long Term Plan aims to prevent 150,000 cases of heart attack, stroke and dementia by focussing on the A, B and C of CVD management, however, unfortunately late diagnosis and under treatment is common:- A – Atrial Fibrillation B – Blood Pressure C - Cholesterol

High cholesterol is 1 of the most significant risk factors for CVD3. Globally, a third of ischaemic heart disease is attributable to high cholesterol. It is estimated to account for 7.1% of deaths and 3.7% of disability-adjusted life years (DALYS) in England.

High cholesterol is characterised by the build-up of fatty deposits in arteries, so tends to increase as we age.

In the UK, ~25 – 28% of CVD death is due to elevated cholesterol and is the second most significant risk factor after blood pressure. For every 1mmol/L reduction in Low Density Lipoprotein Cholesterol (LDL-C), there is a 23% reduction in major vascular events. Familial Hypercholesterolaemia (FH) is a genetic condition that causes high cholesterol and coronary heart disease, often resulting in premature Coronary Heart Disease (CHD), Myocardial Infarction (MI) and early mortality. Patients with FH will have abnormally high total cholesterol and LDL Cholesterol from birth. Children born to an individual with FH have a 50 per cent chance of inheriting the condition. 50% of males and 30% of females with untreated FH will have developed CHD by the age of 55. This premature disease, often resulting in early death, is avoidable. Unlike many genetic conditions, FH can be diagnosed relatively easily and, with inexpensive treatment, people with FH can lead normal, healthy lives. In 2008, NICE published a clinical guideline for the Identification and Management of FH (CG71). The guideline recommends identifying cases of FH, using cholesterol measurements and cascade genetic testing of their families. Referral to specialist FH clinics is recommended for confirmation of the diagnosis, patient counselling and in order to initiate the cascade testing. Cascade testing is the process of systematically offering DNA testing to the relatives of affected individuals because someone with FH has a 50:50 chance of passing the condition on to their children. There are two elements of Genetic services required to support an FH service:

1. Molecular Genetics – this is the actual genetic DNA analysis to support diagnosis;

3 NHS Long Term Plan https://www.gov.uk/government/publications/health-matters-preventing-cardiovascular-disease/health-matters-

preventing-cardiovascular-disease

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2. Index Case/Cascade Testing – this provides specialist genetic counselling to all patients before undergoing any DNA analysis; it will also produce family pedigrees and run all aspects of cascade testing.

The QALY of cascade testing for people with suspected FH is £2,6764, significantly below the threshold used by NICE (£20,000/QALY) for cost-effectiveness. By comparison, the QALY of a hip replacement is between £7,058 and £7,220 for patients under the age of 755. Benefits from initiatives to find cases of FH include a reduction in premature deaths from heart disease; a reduction in long-term morbidity and its associated costs; and the benefits to families no longer trapped in a cycle of premature heart disease. Since the cost of effective therapy is so low, a significant saving could be made by the NHS in England, due to a reduction in CHD events and the reduced number of associated hospital admissions.

3. Case for Change There is an urgent need for change within the East Midlands. The region is currently not meeting NICE Guidelines for this condition despite the case and strategic direction that sets it out as high priority. The current services for patients lack regional co-ordination; care is fragmented, with no agreed pathway, standards or protocols or systematic cascade testing either by genetic typing or by cholesterol measurement. FH Services across the East Midlands do not currently meet:

NICE Guideline CG71

NHS Long Term Plan Target

NICE Quality Standards (QS41)

Department of Health - Best Practice Guidance CVD Outcomes Strategy (DH 2013)

Across the East Midlands region, between December 2017 and November 2018) there were 3,840 premature cardiovascular events recorded in males under the age of 55 and females under the age of 65. Many of these patients will have undiagnosed FH and therefore, many of these events could be avoided by FH patients being diagnosed and treated appropriately. FH in the UK population is estimated by Public Health England (PHE) and NHS England (NHSE) to be 1 in 250 and we have used this assumption in the business case. There are an estimated 19,433 people affected by FH in the East Midlands region. The NHS Long Term Plan estimates that only 7% of people are diagnosed

4 BHF. Delivery of Familial Hypercholesterolaemia Services: Identifying Enablers and Barriers: 2016

https://www.bhf.org.uk/informationsupport/publications/healthcare-and-innovations/delivery-of-fh-services-identifying-enablers-and-

barriers

5 BMJ Open Access Research https://bmjopen.bmj.com/content/2/3/e000752

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with genetically confirmed FH, however, in the East Midlands it is suspected that only 5% people with FH are diagnosed (clinically) which leaves 18,461 undiagnosed Figure 1 shows an estimate of the FH population in the East Midlands:-

STP Estimated FH Population Nov 2020

DERBYSHIRE STP 4,169

LINCOLNSHIRE STP 3,195

NOTTINGHAMSHIRE ICS 4,401

LEICESTER, LEICESTERSHIRE AND RUTLAND STP 4,647

NORTHAMPTONSHIRE STP 3,021

EAST MIDLANDS 19,433

The Midlands (East and West) Cardiovascular Disease Clinical Network is proposing to support the five STPs/ICS in East Midlands to develop and implement a nurse led FH genetic testing service to address the detection and management of FH in people who are currently not diagnosed. This will include genetic testing for patients with clinically diagnosed FH and will also include family cascade testing.

3.1 Strategic Direction

The NHS Long Term Plan specifically sets out the need for expanding access to genetic testing for Familial Hypercholesterolaemia which will enable us to diagnose and treat those at genetic risk of sudden cardiac death. The document specifically identifies (pg. 62) the target of genetically diagnosing at least 25% of people with FH. The NHS RightCare Optimal Pathway highlights FH as one of the 6 high risk cardiovascular disease conditions that are currently underdiagnosed and insufficiently managed despite a range of available interventions, and therefore FH represents a target for improvement and delivering cost efficiencies under RightCare. Cardiovascular disease has been identified by RightCare programme nationally as one of the key priorities for delivery in 2019. Most people with FH have inherited a defective gene from only one parent (heterozygous), however, rarely; a person will inherit a genetic defect from both parents (homozygous).

People with FH are at 300 times greater risk of developing CHD than the general population, and onset is typically severe and early, however traditional cardiovascular risk calculators do not necessarily highlight cases. Even if a young person is detected with a raised cholesterol (bearing in mind cholesterol is not routinely checked under the age of 50) current risk calculators such as QRISK2, used in primary care, will deem them very low risk for cardiovascular disease in the absence of other risk factors, such as hypertension/smoking status. For example, the estimated QRISK2 score of a 45-year-old male with total cholesterol of 8.0 mmol/l and no risk factors will only be 4% at 10 years when, in fact, his real cardiovascular risk if FH is confirmed is around 30-50% (10 times more than

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the standard calculation). Therefore, CVD Risk calculators often underestimate risk in patients with FH resulting in patients not being treated at an early enough age. Figure 2 shows that, if treated early on with high dose statin at age 18, their risk of disease burden reduces and for a child with FH treated with low dose statin before the age of 10, they can go on to have the same life expectancy as the general population. Figure 2 Trajectory for risk of CVD event for people with FH:-

Conversely, some patients who are treated for FH based on a clinical diagnosis may be treated unnecessarily if their hypercholesterolaemia is polygenic in nature rather than monogenic and only genetic testing will prove this.

4. The Recommendation The recommendation is for the development of a Nurse-led FH genetic screening services across the East Midlands. The regional approach will maximise quality across the region and minimise costs. This option will benefit the East Midlands population by offering those identified at risk of FH the ability to be diagnosed locally, as close to where they live as possible, and receive treatment which will reduce premature death, reduce cardiovascular events and long term CVD morbidity. This will also prevent families being trapped in a cycle of premature heart disease which is commonly seen by families affected by FH for generations. It will reduce the incidence of, and therefore the cost of treatment and management of cardiovascular events. The Nurse-led programme aims to identify people across the East Midlands region that may carry the genetic disorder leading to FH and to identify any family members that may also carry the gene mutation (family cascade testing). This will help to reduce cardiovascular events and premature mortality. This service will offer cascade testing to both adults and paediatric patients, thus initiating risk-reduction treatment at the earliest opportunity. This will help to reduce the burden on health and social care services by avoiding CVD events in the longer term and improving the quality of life for many people across the region.

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Based on learning from the West Midlands FH Service, the cost of implementing an FH service in each STP/ICS area is £80,768.00 in year 1. This includes the cost of one WTE Band 8a Clinical Programme Manager for the region, one WTE Band 7 FH Specialist Nurse allocated to each STP/ICS, consumables, accommodation, IT (see page 16 & 17) and administration support. It is proposed that the cost of the FH screening service would need to be funded by the STP/ICS, however, it is calculated that the recurrent costs of the FH service in year 3 onwards would be off-set by avoiding unnecessary new and follow-up appointments at each hospital lipid clinic. As part of this programme, a clinical expert from East Midlands will provide clinical governance, oversight and support to the Nurse-led team including attending regular MDT meetings to discuss a plan of care for specific patients and their families. The clinical expert will also be involved in the evaluation of the service and raising awareness of the service amongst lipid colleagues regionally. The NHSE Clinical Network has also funded the secondment of the clinical manager from the West Midlands FH Service (WMFHS) (10k per annum) to support the mobilisation of the service and funded 40k for the database developed for the WMFHS to be adapted for use across the East Midlands. The database is a standalone end to end patient administration system and supports the linking of families across the region to facilitate local and regional cascade testing. It must also be borne in mind that the costs related to identification of patients of FH are non-recurrent. Once all families have been screened for FH and diagnosed, there would be no recurrent costs incurred in screening the general population. FH is predictably inherited as an autosomal dominant condition and so only future offspring would need to be screened.

The weight of clinical evidence strongly supports the effectiveness of DNA index and cascade testing for individuals at risk of having the genetic disorder FH and targeted genetic testing will further support family planning choices for people and will help with clinical management to reduce the incidence of cardiovascular events, particularly at a young age. The service will be hosted by University Hospitals Leicester following an Expression of Interest (EOI) award process. The host organisation will provide governance, administration, nursing, management and IT support to the team of nurses. The cohort of specialist FH nurses will run peripatetic clinics in the East Midlands region, each nurse covering the populations served by a number of lipid clinics, to optimise equity in geographical access and service efficiency. They will undertake provision of the regional screening service in primary care settings rather than acute hospital settings to deliver care closer to patient needs, ensure maintenance of close links to the patient’s primary care provider and minimise costs. Access to FH services is variable across the region as are diagnosis and treatment pathways. Within the East Midlands, patients with suspected FH are usually referred by primary care to secondary care lipid clinics for assessment. Patients with probable/possible FH are treated as if they have FH and commenced on statin treatment by the lipid clinic. However, most patients in East Midlands with probable/possible FH do not receive genetic testing to confirm FH diagnosis and some patients may be treated unnecessarily based on a clinical diagnosis. There is a small minority of patients living in North Derbyshire who are seen by consultants linked to Sheffield Teaching Hospital’s FH service who do have access to genetic

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testing. This is done via an agreement with North Derbyshire CCG and Hardwick CCG as an outreach service for Chesterfield Royal Hospital. There is currently no programme to support cascade testing to identify people with FH within East Midlands (apart from North Derbyshire). Barriers to developing FH services up to now have included the cost of genetic testing which are approximately £250 per index case and £90 per cascade test. However, the cost of genetic testing for FH is now funded centrally by NHSE since the configuration of Genomic Laboratory Hubs from April 2020 and therefore is no longer a barrier. Additionally, since the original NICE Guideline in 2008 (CG71), many statins have come off-patent and their costs are now much cheaper.

4.1 Proposed Pathway

The flowchart below (figure 3) details the proposed integrated genetic screening and cascade testing patient pathway to be adopted across the East Midlands which will align with the West Midlands service and the East Genomic Laboratory Hub where samples will be analysed:-

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Bloods taken and sent to lab via Royal Mail (8 weeks for index results and 4 weeks for cascade results)

Give patient family history form and advise to return at results appointment

Pathogenic variant Variant Uncertain Significance (VUS) No variant identified

MDT discussion (if required)

Send positive results letter to patient and copy of lab results.

Enclose family history form with

results letter. Indirect contact letters given to

index patient at results appointment.

Cascade testing initiated for family

members identified on family contact form as per cascade SOP.

Send VUS results letter to patient and copy of lab results.

Include follow-up appointment

details to discuss results (refer to index SOP)

Include follow-up app

Send negative results letter to patient and copy of lab results.

Include patient information leaflet if

appropriate.

Offer telephone contact if needed.

Refer to Appropriate Specialist by letter. Send summary letter

to GP and copy to patient.

Refer back to GP with summary letter and copy to patient.

Refer to Appropriate Specialist by letter. Send summary letter

to GP and copy to patient.

Health check providers refer patient to GP

Cascade referral – use GP cascade letter

Proactive case finding by GP to identify

patients ‘at risk’ of FH

Patient self-refers to GP

Patient seen by GP (or Lipid Consultant). FH indicated

Referral criteria met, referral form completed

Cholesterol greater than or equal to 9.0mmol/L

(automatically eligible for genetic testing

Cholesterol greater than 7.5 but less than 9.0mmol/L

(may be eligible but will require risk stratification by FH

nurse using Welsh scoring criteria)

GP to email referral form to FH nurses with patient consent

Incomplete or inappropriate referral forms to be returned to GP. Discuss referral with Clinical Lead for FH Service if advice required.

FH nurse to make contact with the patient by sending first invitation letter and patient information leaflet.

Patient does not contact FH service following invitation

letter or patient DNA’s appointment.

Refer to DNA pathway

Appointment confirmation letter sent to patient with full details of clinic venue

Patient attends FH clinic for first appointment

Refer to index case SOP for clinic process

All information entered onto FH database

Genetic consent form and patient pedigree scanned and

uploaded to FH database

Provide patient feedback form and pre-paid envelope

Nurse

Consultant

GP

MDT

Source: West Midlands FH Service

Figure 3: Proposed pathway

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5. Models of Care There are currently three models of care for FH, both secondary care specialist led and primary care led, where primary care manages the majority of patients in the pathway with secondary care supporting those who need access to more specialist care. Secondary Care specialist-led model The majority of services for people with suspected FH in the East Midlands are led by secondary care where patients are managed and reviewed in consultant-led services, usually in lipids clinics. However, not all areas have well-established lipids clinics, and services for paediatric FH patients are also variable in their remit and delivery. Patients are clinically diagnosed with FH but most are not genetically diagnosed as they are not funded by CCG’s to provide this. There are no cascade genetic testing services in the East Midlands. The Lipid clinic incurs a new outpatient tariff cost and follow-up costs for each patient seen in the clinic. Information from a number of hospitals in the region estimates that approximately two to three new ‘possible/probable FH’ referrals are received each week into lipid services. Most of these new outpatient appointments could be avoided by patients first seeing the FH Nurse in a primary care setting. These numbers mirror those experienced in lipid clinics in the West Midlands where a Nurse-led FH screening service is already in operation as identified in their FH Business case. Waiting times for lipid clinics are also variable across the region and range from approximately 10 weeks to several months. Primary Care-led Model There are no primary care-led FH models in the East Midlands. The West Midlands model is an example of an FH nurse-led approach in primary care and patients are genetically tested via the Bristol Genetics Laboratory to establish a genetic diagnosis of FH. The FH nurses have access to a monthly MDT which includes a secondary care clinical expert to provide access to support and advice where appropriate for discussion of cases where the pathway is unclear. Full assessment of each patient is undertaken by the Nurse and fulfils the NHS plan of better managing A, B and C to reduce the risk of CVD. Each assessment includes:-

Blood pressure

Pulse rate/rhythm

Height, weight and BMI

Observation for clinical signs of FH

Lifestyle questions and advice

Comprehensive family history All results are reported back to General Practice irrespective of the referral route and successful earlier pilots conducted by the British Heart Foundation suggest that FH Nurse posts have a positive impact on the delivery of cascade testing and driving up of referrals.

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5.1 Proposed East Midlands Model

The East Midlands would wish to progress with a primary care-focussed FH Nurse-led service replicating that of the West Midlands which would support people with suspected FH to access genetic testing where clinically appropriate. It is proposed that a cohort of specialist FH nurses will run peripatetic clinics in primary care across the East Midlands region, each nurse covering the populations served by a number of lipid clinics, to optimise equity in geographical access and service efficiency. Clinicians will have direct access to genetic testing via the Nurse-led service without the need to go through secondary care Lipidologists. However, it is acknowledged that there will be a historic list of patients currently under the care of Lipidologists in secondary care that will be referred for genetic testing to the Nurse-led service for confirmation of diagnosis and to facilitate and realise the benefits of cascade family testing. As a result of a positive genetic diagnosis of FH in an ‘index case’, a process will be undertaken, led by the FH nurse to establish potential relatives of the index patient that are to be invited for cascade testing. This should include at least the first, second and, when possible, third-degree biological relatives.

5.2 Referral for Testing

Pathways and protocols will need to be in place to ensure that appropriate referrals for genetic testing are made by primary and secondary care and eligibility criteria will be agreed in accordance with the Genomic National Test Directory for requesting genetic testing. NICE CG71 Guidelines 2008 (updated 2017) recommends case finding of people who:

Have a total cholesterol level greater than 7.5mmol/l or

Have a personal or family history of premature coronary heart disease (an event before 60 years in an index individual or first-degree relative).

Or are younger than 30 years with a total cholesterol concentration greater than 7.5 mmol/l

30 years or over with a total cholesterol greater than 9.0mmol/l These individuals should have a clinical diagnosis based on the Simon Broome or Dutch Lipid Clinic Network diagnostic criteria in primary care and, where appropriate, offered a DNA test to confirm definite FH and to assist in further cascade testing of relatives. NICE also recommends that children aged 0-10 years at risk of FH (because they have 1 or more affected parents) should be offered a DNA test by the age of 10 but definitely at the earliest opportunity thereafter given the benefits highlighted in figure 2.

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The Department of Health outlined in its strategic outcomes in 20136 a number of citations for FH diagnosis and management linked to the improvements required to identify individuals and families at very high risk of cardiovascular events, in particular those with inherited conditions such as FH. Referrals will be received from all specialities to include Lipid Consultants who will have heritage lists of patients with clinically diagnosed FH but FH genetic testing is highly recommended to confirm diagnosis and facilitate cascade testing for family members to initiate early treatment where appropriate. Referrals will also be received from General Practice either opportunistically such as following an NHS Health Check or annual review or via clinical system searches to identify eligible patients. Referrals from any other speciality where patients meet the eligibility criteria will also be accepted such as cardiac rehabilitation for patients following an acute event. There will be equal priority given to referrals from all specialities.

5.2 Eligibility Criteria

The eligibility criteria for the East Midlands Service is as proposed below (figure 4) which will ensure that only the highest risk patients are genetically tested for FH:-

Source - West Midlands Familial Hypercholesterolaemia Service

All patients (adult and paediatric) will be eligible to access the service if they have a clinical diagnosis of possible or probable FH and will be risk assessed using the Welsh scoring criteria7 ensuring that only patients at high risk of FH are tested. This risk stratification tool is used for ‘index’ patients only and risk stratifies using the following criteria:- Age at time of LDL-C test Family history Physical examination findings Clinical history LDL- C result and was the result on/off statin therapy Fasting triglycerides

6 DoH Cardiovascular Disease Outcomes Strategy: Improving outcomes for people with or at risk of cardiovascular disease,

https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/217118/9387-2900853-CVD-

Outcomes_web1.pdf, 2013

7 https://fhwalescriteria.co.uk/assistant.html

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All relatives of positive index cases will be eligible to access the service for cascade testing where they are registered with a GP who is within one of the 5 East Midlands STP/ICS areas and/or they reside within the STP/ICS. Where this does not apply, cascade patients will be referred to their local FH testing service where available or to their GP if a service is not known to be available within their area.

6. Financial Case There are no commercial funding sources. As identified in the case for change section above, ‘Cascade testing of relatives of those with suspected FH is highly cost effective. The current Europe-wide high levels of undiagnosed FH, and associated morbidity and mortality, mean adoption of cascade services should yield substantial quality of life and survival gains.8 The cost of implementing an FH service in each STP/ICS area is £80,768.00 in year one to cover costs of the FH Nurses, consumables, accommodation and IT. It is proposed that the costs in year one and year two are funded by the East Midlands STP/ICS after which the service will be reviewed for effectiveness and future commissioning plans. The Public Health England CVD return on investment tool 9 has established a reduction in CVD events over time for each of the STPs/ICS. This is based on improving the detection rate of FH over the next three years to 12% (year 1), 19% (year 2) and 25% (year 3) with a treatment rate of 86% receiving lipid-modification. The FH services are aimed at reducing cardiovascular events in the FH population over a longer term. The modelling highlights the number of avoided long-term cardiovascular events over time which avoids health and social care costs compared to a ‘do nothing’ approach.

6.1 Avoided Costs

In familial hypercholesterolaemia, the absolute risk of first onset of coronary heart disease is 11/10,000 person years in statin treated patients compared with 119/10,000 person years in untreated patients10. Given this, if we were able to treat all FH cases we would prevent 210 cases of CHD per year across the East Midlands.

8 Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in

the UK Marion Kerr, Robert Pears, Zofia Miedzybrodzka, Kate Haralambos, Moyra Cather, MelanieWatson, and Steve E. Humphries.

European Heart Journal (2017) 00, 1–8 doi:10.1093/eurheartj/ehx111

9 https://cvd-prevention.shef.ac.uk/

10 Versmissen et al. (2008) Efficacy of statins in familial hypercholesterolaemia: a long term cohort study (accessed 21.01.19

https://www.bmj.com/content/337/bmj.a2423 )

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Figure 5 – Number of cases of CHD avoided per year if FH programme fully implemented;-

Total no of CHD cases preventable

Total Number of FH cases 19,433

No of new CHD cases per year if all untreated (119/10,000)

231

No of new CHD cases per year if all treated (11/10,000)

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Reduction in new CHD cases 210

Figure 6 – Number of cases of CHD avoided per year per STP/ICS if FH programme fully implemented;-

Total no of CHD cases preventable and cost avoidance

STP Estimated FH Population Nov 2020

No of new CHD cases per year if all untreated (119/10,000)

No of new CHD cases per year if all treated (11/10,000)

Reduction in new CHD cases per year

Potential cost avoidance based on avoidable MI’s per year

DERBYSHIRE STP 4,169 49.6 4.6 45 £63,900 - £216,630

LINCOLNSHIRE STP 3,195 38 3.5 34.5 £48,990 - £166,083

NOTTINGHAMSHIRE ICS 4,401 52.4 4.9 47.5 £67,450 - £228,665

LLR STP 4,647 55.3 5.1 50.2 £71,284 - £241,662

NORTHAMPTONSHIRE STP 3,021

36 3.3 32.7 £46,434 - £157,418

EAST MIDLANDS 19,433 231 21 210 £298,200 - £1,010,940

Each non-elective admission for Myocardial Infarction costs between £1,420 (HRG code EB10E 2020/21) and £4,814 (HRG code EB10A 2020/21) https://improvement.nhs.uk/resources/national-tariff-2021-consultation/. Using 210 avoided MI’s there is a potential cost avoidance of between £298,200 and £1,010,940 based on this number of avoidable heart attacks as a result of CHD. This figure does not take into account additional savings for CCG’s for avoided elective primary PCI, Post MI complications like heart failure and prescribing costs The cost commitment in total across East Midlands STP’s/ICS is £403,840 in Year 1. This does not take into account the above outlined cost avoidance which is likely to cover the entire amount of the service and could equate to in excess of £650,000 cost avoidance per annum. The cost commitment per STP/ICS is:

Breakdown of costs year 1

Even split by 5 STPs/ ICS Year 1 Year 2

1. Northamptonshire STP 2. Leicester, Leicestershire & Rutland STP 3. Lincolnshire STP 4. Derbyshire STP 5. Nottingham and Nottinghamshire ICS

£80,768.00 £79,749.25

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Infrastructure Costs, TOTAL SALARIES including all add ons, pensions etc (25%) - Mid Point on Bands 8A, 7 & 4: Clinical Supervision (0.5PA per week)- £8,320.00 Programme Manager/Lead Specialist Nurse (Band 8a - Point 36)- £57,191.25 5x FH Specialist Nurse (Band 7 - Point 30)- £255,587.50 Administration (Band 4- Point 14)- £30,196.25

£351,295.00

Travel Expenses (average sum based on 100 miles per nurse per week- this may vary depending on area covered)

£12,320.00

Laptops (IT) £7,500.00

VPN Access (IT) £750.00

Printer (HP 6000 Personal Officejet USB Colour A4 Printer for light use)

£650.00

Printing Costs £1,000.00

Mobile Wifi *one off cost for a dongle

£125.00

Mobile Phones £3,900.00

Clinical consumable costs eg. BP monitors, gloves, aprons, blood bottles, swabs, PPE

£15,000.00

Postage Costs £5,000.00

Premises Costs *Estimate based on West Midlands Model of 14 sites per nurse which multiplied between 5 nurses gives a total of 70 sites. We assume nurses will be at clinics for 9 hours for £10 per hour

£6,300.00

Total £403,840.00

Total Per STP/ ICS £80,768.00

Breakdown of costs year 2

Infrastructure Costs, TOTAL SALARIES including all add ons, pensions etc (25%) - Mid Point on Bands 8A, 7 & 4: Clinical Supervision (0.5PA per week)- £8,320.00 Programme Manager/Lead Specialist Nurse (Band 8a - Point 37)- £57,191.25 5x FH Specialist Nurse (Band 7 - Point 31)- £263, 768.75 Administration (Band 4- Point 15)- £30,196.25

£356,476.25

Travel Expenses (average sum based on 100 miles per nurse per week- this may vary depending on area covered)

£12,320.00

Printing Costs £500.00

Mobile Phones £2,400.00

VPN Access £750.00

Clinical consumable costs e.g. BP monitors, gloves, aprons, blood bottles, swabs, PPE

£15,000.00

Postage Costs £5,000.00

Premises Costs *Estimate based on West Midlands Model of 14 sites per nurse which multiplied between 5 nurses gives a total of 70 sites. We assume nurses will be at clinics for 9 hours for £10 per hour

£6,300.00

Total £398,746.25

Total Per STP/ ICS £79,749.25

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7. The Management Case The development of the FH screening service will deliver the following benefits:

Reduce premature mortality rates for people with FH and prevent families being trapped in a cycle of premature heart disease.

Ensure that the STP/ICS is compliant with NICE guidelines

Enable the STP/ICS to achieve the target set out in the NHS Long Term Plan to diagnose 25% of FH patients by 2013.

Provide a standardised pathway for patients with possible or probable FH.

Improve detection of FH Index and cascade cases ensuring patients have a confirmed diagnosis of FH through genetic testing.

Provide access to genetic testing for all eligible patients/relatives

Develop access to testing via primary care as well as secondary care

Improve diagnosis and management of FH in primary care by upskilling practitioners

Avoid longer term costs of cardiovascular events in FH patients through early detection, particularly paediatric FH

Reduce CVD risk over the longer term by identifying cases in childhood so that patients have the same life expectancy as that of the general population by preventing premature deaths and cardiovascular events and reducing the cost and activity associated with caring for the survivors of MIs, strokes, TIAs and angina.

Reduce costs of managing FH cases by transferring the care of some patients from secondary care to primary care with a potential to reduce outpatient appointments to lipid clinics for new FH patients who through this pathway will now be seen by the FH nurse in a primary care setting 11.

Costs related to identification of patients of FH are non-recurring. Once all families have been identified, there would be no recurrent costs in screening the general population. FH is predictably inherited as an autosomal dominant condition and so only future offspring need to be screened.

7.1 Options for consideration

There are three options to consider: 1. Do nothing

This option will miss the opportunity to implement a programme that will:

Prevent premature deaths.

Prevent premature cardiovascular events.

Avoid the cost and activity associated with caring for the survivors of MIs, strokes, TIAs and angina.

Meet The NHS Long Term Plan target.

11 Wilkinson et al. (2020) A Service Evaluation: impact of nurse-led regional FH service on a hospital adult lipid clinic.

British Journal of Nursing November 2020 https://www.magonlinelibrary.com/doi/full/10.12968/bjon.2020.29.20.1206

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This option will continue to see the rise of premature death and premature cardiovascular events due to undiagnosed FH. In addition the STPs/ICS will not meet the NHS Long Term Plan target of diagnosing 25% of FH patients and will continue to be non-compliant with NICE guidance. 2. Develop a Nurse-led FH service across the East Midlands

This option will benefit the East Midlands population by:

Offering those identified at risk of FH a genetic diagnosis which will lead to cascade testing of relatives, in particular, children of index cases.

Patients with FH receiving appropriate treatment will reduce the risk of premature death; reduce premature cardiovascular events and long term CVD morbidity.

Preventing families being trapped in a cycle of premature heart disease.

Providing families with the information they need to make informed choices about conception.

Reducing the incidence of, and therefore the cost of treatment and management of cardiovascular events.

Supports the Five Year Forward view to deliver more health care out of acute hospitals and closer to home.

3. Expand current Secondary Care Service:

This option will:

Increase the pressure on secondary care lipid clinics thus increasing waiting times for patients.

Increase the cost of the service by at least £230 per patient for out-patient appointments/follow-up appointments (the Nurse-led service has no associated tariff).

Breaches the NHS plans to deliver care closer to patient’s homes. OPTION 2 is the proposed model option due to its cost effectiveness and community care delivery model.

7.2 Benefits of the Model

Implementing this proposal will enable compliance with NICE Guidance that is already implemented across Wales, Scotland, Northern Ireland and other parts of England.

It will also help to meet individual CCG priorities:

Effective commissioning of a regional and consistent genetic services model will ensure consistent equity of access, enabling preventative actions to be taken for those at genetic risk of developing serious and life threatening illness and disease.

Identifying and treating FH increases life expectancy in some cases by more than 9 years.

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Identifying and treating FH will have an impact of premature cardiovascular mortality.

Identifying and treating FH will increase control of cholesterol.

Support The NHS Long Term Plan ambition to increase the known prevalence of FH.

From the point of both primary and secondary providers it will allow a consistent approach to be adopted across the region based on agreed standards. It will enable primary care providers to reduce the burden of cardiovascular disease in their populations whilst focusing secondary care resources on those patients who most need them.

We also envisage that this service will enable patients to increasingly become accountable for their own care, through the provision of a definitive molecular diagnosis, clear identification of associated lifestyle risk factors (e.g. smoking, adiposity) for themselves and their affected family members, and co-production with patients of interventions (e.g. drug treatments, lifestyle changes) which are known to minimise disease progression in this setting.

7.3 Recommendations

National strategies to reduce the burden of cardiovascular disease in the UK would be made more effective and more cost effective by incorporating the screening strategy that was recommended in national guidance from NICE for the identification and treatment of people with Familial Hypercholesterolemia. The proposal recommends the following; 1. CCG’s/STP/ICS approve the proposed East Midlands model of care (Option 2) for the identification and management of FH.

2. CCG’s/STP/ICS approve the host arrangements for the service via the regional centre (University Hospitals Leicester).

3. CCG’s/STP/ICS approve funding of £80,768.00 each (total cost of service £403,840.00) in year 1. The service will be implemented and led by a multidisciplinary team composed of East Midlands CCGs, NHSE/I East Midlands Clinical, University Hospitals Leicester, Lead FH Consultant (NUH), Lead Paediatrician (to be identified) senior Band 8a FH Clinical Programme Manager and five band 7 specialist Nurses. This will form the FH operational group and form the strategic body that will oversee the implementation and evaluate the proposed service model and outcomes. Expertise on implementation will also be sought from BHF and Heart UK.

The FH Specialist Nursing team (once appointed) will attend a regular programme of education, training and support, provided by UHL, British Heart Foundation (BHF) and Health Education England (HEE) Genomics Education Programme The host organisation will ensure safe staffing capacity at all times and will ensure that staff are able to demonstrate that they have participated in organisational mandatory and update training, for example infection control, manual handling, information governance, risk assessment as required.

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7.4 Engagement and Communication with Stakeholders

A plan of communications will be undertaken with stakeholders to highlight the new service and the impact this will have on the care of people with FH. Engagement will be required at the outset with both primary and secondary care to establish a robust end to end pathway for FH in each STP/ICS area. Whilst it is expected that a standard pathway would be established across the East Midlands region, there are likely to be areas of variation as a result of resource availability e.g. access to paediatric FH specialists. It is anticipated that recruitment of staff will be complete by April 2021 and the service will mobilise in July 2021 with full roll out across the region.

8. Case Study The following is a real life family case study from The Midlands. A 56 year old female referred to Nurse-led genetic testing service by her GP following routine lipid screen. Lipids on referral:- Total Cholesterol 9.2 mmol/L Low-density lipoprotein 5.2 mmol/L Reported intermittent episodes of chest pain on exertion during consultation but not reported to GP. Also reported family history of early coronary heart disease during consultation: Mother deceased less than age 60 years – heart disease Brother aged 45 – myocardial infarction x 2 and stents Brother aged 52 – myocardial infarction x 3 and stents Brother aged 48 – myocardial infarction and elevated cholesterol levels Sisters aged 43 and 50 – cholesterol unknown Patient genetically tested for familial hypercholesterolaemia – diagnosis of FH confirmed. Nurse also contacted patients GP and arranged urgent consultation re chest pain, patient referred to Rapid Access Chest Pain Clinic and underwent Percutaneous Coronary Intervention (PCI). Cascade testing facilitated by Nurse-led team for all family members:- Brother aged 45 – myocardial infarction x 2 and stents – FH Confirmed, both children tested ages 15 and 18 years. 15 year old confirmed FH. Brother aged 52 – myocardial infarction x 3 and stents – FH confirmed, daughter aged 28 FH confirmed. Brother aged 48 – elevated cholesterol levels – FH confirmed, four children tested ages 12 – 18 years, two have confirmed FH.

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Sisters aged 43 and 50 – cholesterol unknown – sister aged 43 years FH confirmed, three children tested ages 12 and 14, identical twin girls FH confirmed. All of the above adults and children were given counselling and lifestyle advice by FH Nurses, referred to specialist services for review in accordance with NICE CG71 (2008) and commenced on lipid lowering therapy to reduce the risk of further CVD events. The cost of statin therapy for an adult is approximately £20 per annum. The diagram below shows the effectiveness of family cascade testing from one referral. This referral will potentially cease the cycle of early CHD this family were trapped in and there are many other families like this who are affected at all ages. For information, those with a red symbol were found to have genetically confirmed FH following testing and all those with a blue symbol had previously experienced an MI prior to diagnosis:-

Several members of this family presented to NHS Services with raised cholesterol and/or an acute MI prior to the FH service piecing their family history together. DNA based genetic screening service and subsequent treatment in these otherwise asymptomatic individuals would hopefully prevent premature CVD in 11 of the members of this family. Multiple families like this present regularly to health services across the East Midlands. Some present as emergency cases and then go on to utilise significant health and social care services as a result of undiagnosed and untreated FH. Others present before an inevitable event. This business case aims to establish a cost effective screening service to identify these families and make a difference to their health as well as reduce the unnecessary burden on the National Health Service.