CPI: Familial hypercholesterolaemia

Identifying workforce development and education needs to support the familial hypercholesterolaemia clinical pathway across the NHS Genomic Medicine Service

Familial hypercholesterolaemia (FH) is an inherited condition that causes extremely high cholesterol in an affected individual and increases their risk of premature cardiovascular disease.

FH affects about one in 250 people in the UK, but is currently underdiagnosed, with only 10-15% of those affected being identified. The NHS Long Term Plan sets a target to increase this to 25% of cases by 2024.

FH was selected as one of seven transformation projects delivered through the Genomic Medicine Service Alliances (GMSA) to identify ways to increase FH detection, and to facilitate mainstreaming of FH services.

This Clinical Pathway Initiative (CPI) project identifies the education and training needs of those delivering FH genomic testing in a mainstream clinical setting.

How to use this page

The pathway is broken down into key steps, numbered below. Each step has associated competencies, each listed within a blue box, that a healthcare professional should have to be able to deliver that step. Clicking a blue box will expand the competency to provide additional information, associated learning and supporting digital solutions.

You can use this pathway to plan service delivery, identify and address workforce training needs, or to assess and develop your own knowledge and skills.

Who developed this CPI project?

The North East and Yorkshire GMSA, working with North Thames GMSA, was funded to lead on the education and training component of the FH transformation project. As part of that, the following people contributed to the development of this CPI project:

Project co-leads

Dr Jude Hayward, GPwSI in genetics, Yorkshire Regional Genetic Services, National Genomics Education primary care lead
Deborah Leetham, Northumbria University assistant professor, department of nursing, midwifery and health
Dr Dermot Neely, Academic Health Science Network for the North East and North Cumbria specialist adviser on lipids
Melanie Watson, Wessex Clinical Genetics Service (University Hospital Southampton NHS Foundation Trust) consultant genetic counsellor and University of Southampton honorary senior clinical lecturer

Additional support and thanks

Academic Health Science Network for the North East and North Cumbria: CVD programme lead Kate Mackay, medical director Professor Julia Newton, and digital transformation programme manager Sarah Rendall
Heart UK: chief executive Jules Payne
Central and South GMSA’s FH National Transformation Project Oversight Group
NHS England’s National Genomics Education programme
NHS England’s Workforce Steering Group: Primary Care Special Interest Group in Genomics
North East and Yorkshire GMSA’s FH National Education and Training Leadership Board
North East and Yorkshire GMSA’s FH Transformation Project Steering Group

Key

We have identified the type of competency in each of the drop-down boxes below:

G: General competency
P: Pathway-specific competency
St: Step-specific competency
K: Knowledge
S: Skills
A: Attitudes

STEP 1

Case-finding search in primary care IT system

Competencies

A. Describes available informatics tools to support case-finding (St, S)

These tools may include:

CDRC (Clinical Digital Resource Collaborative);
UCLP (University College London Partners’ FH framework); or
FAMCAT (Familial Hypercholesterolaemia Case Ascertainment Tool).

Associated learning:

User guidance specific to each case-finding tool.

Supporting digital solutions:

CDRC search repository, creation of supporting SNOMED-CT codes.

B. Demonstrates ability to access, upload, run and generate output from case-finding tool within primary care IT system (St, S)

Associated learning:

User guidance specific to each case-finding tool (such as CDRC or UCLP)
FAMCAT (Familial Hypercholesterolaemia Case Ascertainment Tool)

Supporting digital solutions:

CDRC search repository, creation of supporting SNOMED-CT codes.

Workforce groups

Non-clinical, clinical or informatics

STEP 2

Identifying relevant information to facilitate clinical diagnosis and eligibility for testing (EHR review)

Competencies

A. Demonstrates up-to-date knowledge of FH, including inheritance and clinical presentation (P, S)

Associated learning:

Heart UK: Identifying FH in Primary Care
NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice
University of Northumbria: Distance-learning module on FH

B. Demonstrates up-to-date knowledge of criteria for diagnosis and testing (P, S)

Criteria for diagnosis:

MD+ Calc: Simon-Broome criteria
Lipid Tools: Dutch Lipid Clinic Network

Criteria for genomic testing:

NHS England: National Genomic Test Directory

Associated learning:

National Genomics Education programme: GeNotes: Familial hypercholesterolemia
National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management
NHS Accelerated Access Collaborative: Summary of national guidance for lipid management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice

Supporting digital solutions:

Electronic referral form containing test eligibility criteria embedded within or interfacing with primary care systems.

C. Demonstrates knowledge of secondary causes of hypercholesterolaemia and alternative diagnoses (P, S)

Associated learning:

Heart UK: Identifying FH in Primary Care
NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice
University of Northumbria: Distance-learning module on FH

Supporting digital solutions:

Electronic referral form containing test eligibility criteria embedded within or interfacing with primary care systems.

D. Identifies relevant clinical information from the Electronic Health Record (EHR) (St, S)

Relevant information may include:

family history;
previous blood and lipid results; and
other co-morbidities.

Understands limitations, such as coding.

Associated learning:

Heart UK: Identifying FH in Primary Care
NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice
University of Northumbria: Distance-learning module on FH

Supporting digital solutions:

Electronic referral form containing test eligibility criteria embedded within or interfacing with primary care systems.

Workforce groups

Primary healthcare professional: pharmacist, GP, practice nurse, advanced nurse practitioner, physician associate

STEP 3

Identifying relevant information to facilitate clinical diagnosis and eligibility for testing: direct patient contact

Competencies

A. Interprets diagnostic criteria to identify further information needed (St, S)

Relevant information could include:

family history; and
tests to confirm or exclude secondary causes.

Associated learning:

NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management
University of Northumbria: Distance-learning module on FH

Supporting digital solutions:

Accurx, e-consult, consultation.

B. Elicits relevant family history information (St,S)

Information sought up to second-degree relatives, with ages affected and symptoms or signs.

Associated learning:

NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol

Supporting digital solutions:

Accurx, e-consult, consultation.

C. Records relevant information within the primary care record (St, S)

Supporting digital solutions:

Accurx, e-consult, consultation.

D. Applies knowledge of diagnostic criteria and utilises relevant resources and patient information to enable decision-making regarding eligibility for testing (St, S)

Associated learning:

Heart UK: Identifying FH in Primary Care
NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice
University of Northumbria: Distance-learning module on FH

Supporting digital solutions:

Accurx, e-consult, consultation.

E. Assesses where FH genomic testing is appropriate in the patient’s clinical pathway (St, S)

Professionals should make reference to local, regional and national pathway and guidelines.

Associated learning:

NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol

Supporting digital solutions:

Accurx, e-consult, consultation.

F. Demonstrates awareness of, and applies appropriate guidance and clinical pathways to, ongoing clinical management of those non-eligible for genomic testing (G, S)

Associated learning:

NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management
NICE guidelines: Lipid modification/CVD prevention
Heart UK: For healthcare professionals

Supporting digital solutions:

Accurx, e-consult, consultation.

Workforce groups

Primary healthcare professionals: pharmacist, GP, practice nurse, advanced nurse practitioner, physician associate (with expert advice if needed)

STEP 4

Determine eligibility for testing

Competencies

A. Applies knowledge of diagnostic criteria and utilises relevant resources and patient information to enable decision-making (G, S)

Criteria for testing:

NHS England: National Genomic Test Directory

Associated learning:

Heart UK: For healthcare professionals
Heart UK patient information: What is familial hypercholesterolaemia?
NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management

Supporting digital solutions:

Mechanism for seeking expert advice: Virtual MDT, E-consulting, Advice and Guidance, dedicated email address, Consultant Connect.

B. Assesses where FH genomic testing is appropriate in the patient’s clinical pathway (P, S)

Professionals should make reference to relevant local, regional and national pathways and guidelines.

Criteria for genomic testing:

NHS England: National Genomic Test Directory

Associated learning:

NHS England National Genomics Education programme: GeNotes: Familial hypercholesterolemia
NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol
NICE guidelines: Familial hypercholesterolaemia: identification and management

Supporting digital solutions:

Mechanism for seeking expert advice: Virtual MDT, E-consulting, Advice and Guidance, dedicated email address, Consultant Connect.

C. Demonstrates awareness of, and applies guidance and clinical pathways to, on-going management of those non-eligible for genomic testing (G, S)

Associated learning:

NICE guidelines: Lipid modification/CVD prevention
NICE guidelines: Familial hypercholesterolaemia: identification and management
Heart UK: For healthcare professionals

Supporting digital solutions:

Mechanism for seeking expert advice: Virtual MDT, E-consulting, Advice and Guidance, dedicated email address, Consultant Connect.

D. Seeks further assistance, where relevant, based on scope of practice (G, S)

Professionals should be able to:

seek advice appropriately, identifying appropriate route of expert advice within local or regional clinical pathways;
summarise and present relevant information concisely; and
recognise professional boundaries and competencies.

Associated learning:

Heart UK patient information: What is familial hypercholesterolaemia?

Supporting digital solutions:

Mechanism for seeking expert advice: Virtual MDT, E-consulting, Advice and Guidance, dedicated email address, Consultant Connect.

Workforce groups

Primary healthcare professionals: pharmacist, GP, practice nurse, advanced nurse practitioners, physician associate

Secondary care: FH specialist nurse, professionals working in lipidology or cardiology

STEP 5

Counsel and consent for FH testing

Competencies

A. Demonstrates ability to explain the implications and limitations of a genomic test for FH and establishes patient understanding and ability to consent (St, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
NHS England National Genomics Education programme: Introduction to Offering Genomic Tests
University of Northumbria: Distance-learning module on FH

B. Ability to consent patients for FH genomic testing, adhering to national and local processes (St, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
NHS England National Genomics Education programme: Introduction to Offering Genomic Tests
University of Northumbria: Distance-learning module on FH

C. Conveys to the patient the purpose and process of the clinical testing being offered (P, S)

Healthcare professionals should be able to:

outline the condition to the patient;
explain the test is to aid diagnosis, risk of cardiovascular disease (CVD) and to optimise lipid management;
explain possible results (including incidental findings) and describe potential uncertainty of genomic information;
explain sampling process and turnaround time for test;
explain process for feedback of results and clinical actions that may or may not be taken, applying local clinical pathways;
explain implications of results for family members, including clinical actions, applying local clinical pathways;
explain implications for insurance; and
explain storage and usage of samples and data.

Criteria for testing:

NHS England: National Genomic Test Directory

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)

D. Ensures process of recording consent follows national and local processes and governance arrangements (St, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
University of Northumbria: Distance-learning module on FH

E. Identifies when the patient needs additional support from another healthcare practitioner (e.g. GP, FH nurse) and facilitates contact or onward referral (P, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
University of Northumbria: Distance-learning module on FH

F. Applies core clinical skills and effective communication skills to the genomic test conversation (St,S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
NHS England National Genomics Education programme: Introduction to Offering Genomic Tests
University of Northumbria: Distance-learning module on FH

Workforce groups

Primary healthcare professionals: pharmacist, GP, practice nurse, advanced nurse practitioners, physician associate

Secondary care: FH specialist nurse, professionals working in lipidology or cardiology

Step 6

Record and request FH test

Competencies

A. Ensures the process of recording consent for a genomic test follows national and local processes and governance arrangements, and is appropriate for the test being requested (G, S)

Professionals should be able to:

record consent through completion of agreed consent documentation; and
communicate appropriately with other healthcare professionals in pathway.

Associated learning:

NHS England National Genomics Education programme: Finding a genomic cause: the clinician’s role
NHS England National Genomics Education programme: Introduction to Offering Genomic Tests

B. Adheres to samples requirements and local requesting pathways (S, S)

Criteria for genomic testing:

NHS England: National Genomic Test Directory

Associated learning:

NHS England National Genomics Education programme: GeNotes: Patient with raised cholesterol

C. Understands processes for changes to consent, and provides patient with details of whom to contact in this situation (S, K)

Associated learning:

NHS England National Genomics Education programme: Finding a genomic cause: the clinician’s role

Workforce groups

Primary healthcare professionals: pharmacist, GP, practice nurse, advanced nurse practitioners, physician associate

Secondary care: FH specialist nurse, professionals working in lipidology or cardiology

STEP 7

Feedback of FH testing results to patient

Competencies

A. Arranges feedback of results ensuring appropriate mechanism, environment and appointment time (St, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolemia course (due to launch soon)
University of Northumbria: Distance-learning module on FH

B. Applies knowledge to understand the genomic test result and its implications (St, S)

Professionals should be able to:

recognise variant classification terms and that a genetic cause is not ruled out if no variants are found (such as in a diagnostic test context); and
understand the implications of the result for clinical care and understand guidelines within area of specialty (but seeks further advice where relevant).

Associated learning:

NHS England National Genomics Education programme: Discussing Diagnostic Germline Genomic Tests
NICE guidelines: Familial hypercholesterolaemia: identification and management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice

C. Communicates effectively so that patients understand their test results and the implications of these results. (St, S)

Professionals should be able to:

explain the result and explains implications for clinical care, adhering to local, regional and national clinical pathways;
explain that FH follows an autosomal dominant pattern of inheritance and the family implications for first-degree relatives initially, including outline of cascade testing;
convey that knowledge about result may change (such as variants of uncertain significance);
identify relevant patient resources and support groups;
communicate a clear plan for follow-up and ongoing clinical management;
facilitate appropriate onward referrals to other specialists and services as required, for clinical management, outwith scope of practice, or for support with uncertainty and psychosocial issues; and
provide a copy of the report if patient wishes.

Associated learning:

NHS England National Genomics Education programme: Discussing Diagnostic Germline Tests
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice
St George’s University of London: Interpreting Genomic Variation: Fundamental Principles

D. Documents clinical contact about the genomic result appropriately (St, S)

Professionals should be able to:

record the patient’s diagnosis and result appropriately in relevant patient record systems, including use of the appropriate SNOMED codes; and
communicate the diagnosis to relevant professionals involved in the wider care of the patient.

Associated learning:

NICE guidelines: Familial hypercholesterolaemia: identification and management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice

E. Understands and facilitates onward referral as required (St, K/S)

Associated learning:

NICE guidelines: Familial hypercholesterolaemia: identification and management
Royal College of General Practitioners: Management of Familial Hypercholesterolaemia in General Practice

F. Supports the patient in adapting to the result (St, S)

Professionals should be able to recognise when further support may be required for onward referral to specialist colleagues.

Workforce groups

Specific healthcare professional requesting test

All steps

Common to all pathway steps

Competencies

A. Recognises and acts within professional / role-specific boundaries and competencies (G, S)

B. Understands all relevant clinical pathways (FH, lipid disorders and CVD) including routes for accessing advice and support. Works collaboratively with colleagues and specialties applying pathways and protocols. (P, S)

Associated learning:

NHS England National Genomics Education programme: Transformation project: Familial hypercholesterolaemia
NICE guidelines: Lipid modification/CVD prevention

C. Demonstrates knowledge of all avenues of patient support, including resources and onwards referral, and can communicate these to patients. Identifies when patients need additional support from another healthcare professional. (G, S)

Associated learning:

Heart UK: For healthcare professionals

D. Knows how to access and apply all relevant educational resources and guidance (FH, lipid disorders and CVD) (P, K)

Associated learning:

NHS England National Genomics Education programme: Transformation project: Familial hypercholesterolaemia

E. Demonstrates effective communication skills and professionalism in patient care. (G, S)

Associated learning:

NHS England National Genomics Education programme: Let’s talk about communication strategies
NHS England National Genomics Education programme: Patient perspectives
University of Northumbria: Distance-learning module on FH

F. Seeks further assistance, where relevant, based on scope of practice (G, S)

Professionals should be able to:

seek advice appropriately, identifying appropriate route of expert advice within local and regional clinical pathways; and
summarise and present relevant information concisely.

Associated learning:

University of Northumbria: Distance-learning module on FH

G. Summarises and presents relevant information concisely (G, S)

Associated learning:

NHS England National Genomics Education programme: Familial hypercholesterolaemia course (coming soon)
University of Northumbria: Distance-learning module on FH

Workforce groups

All roles and professions