Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
STEP 1
Determine patient eligibility for germline testing
Competencies
A. Demonstrates up-to-date knowledge of ICCs and their phenotypes, for which genomic testing may be offered. (P, K)
Associated learning:
- British Heart Foundation: Inherited heart conditions
- Cardiac Risk in the Young: Medical information
- Cardiomyopathy UK: Information resources (see ‘About Genetics’)
- NHS England: National Genomic Test Directory
- NHS England’s Genomics Education Programme:
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 10.1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
B. Interprets results of cardiac investigations and uses these to apply national test criteria. (P, S)
Associated learning:
- NHS England: National Genomic Test Directory
- NHS England’s Genomics Education Programme:
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
C. Obtains and documents an accurate family history, understanding how conditions may present and the variability of clinical presentation. (St, S)
Associated learning:
- Cardiomyopathy UK: Information resources (see ‘About Genetics’)
- NHS England’s Genomics Education Programme:
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
D. Understands how to access and use the most up-to-date version of the National Genomic Test Directory, and uses it to determine patient eligibility for genomic testing and when it is appropriate to offer. (St, S)
Associated learning:
- NHS England: National Genomic Test Directory
- NHS England’s Genomics Education Programme: GeNotes: National Genomic Test Directory
E. Liaises with other professionals (such as those in multidisciplinary teams, clinical genomics services and Genomic Laboratory Hubs) regarding any queries relating to the test. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme: Genomics in Cardiology
- South London Cardiovascular Networks
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
F. Knows the likelihood of the patient’s presenting condition having a genetic basis, versus other possible factors (such as behavioural, social and/or environmental) that may contribute. (St, K)
Associated learning:
- NHS England’s Genomics Education Programme:
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
G. Recognises the differences between diagnostic and predictive tests. (St, K)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
- NHS England’s Genomics Education Programme:
Publications:
- Arbelo E, Protonotarios A, Gimeno JR and others. ‘2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC)’. European Heart Journal 2023: volume 44, issue 37, pages 3,503–3,626. DOI: 10.1093/eurheartj/ehad194
- Ommen SR, Mital S, Burke MA and others. ‘2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines’. Journal of the American College of Cardiology 2020, volume 76, issue 25, pages 3,022–3,055. DOI: 10.1016/j.jacc.2020.08.044
Workforce groups
STEP 2
Provide information about testing
Competencies
A. Elicits patient’s understanding, expectations and concerns about genomic testing and addresses these appropriately. (St, S)
Associated learning:
- Genetic Alliance: Genetic services and testing
- NHS England’s Genomics Education Programme:
- Facilitating Genomic Testing: Discussing Diagnostic Germline Genomic Tests
- Facilitating Genomic Testing: Introduction to Offering Genomic Tests
- Finding a genomic cause: the clinician’s role
- Genomics 101: Talking Genomics
- Introduction to the Counselling Skills used in Genomic Medicine
- Let’s Talk About… Communication Strategies
B. Uses communication skills to discuss complex genomic and ICC-related information at a level appropriate for the patient. (P, S)
Associated learning:
- NHS England’s Genomics Education Programme:
C. Understands the potential benefits, outcomes and implications of testing, including psychosocial, for the individual and their family members, and conveys these effectively to the patient. (P, S)
Associated learning:
- Genetic Alliance: Genetic services and testing
- NHS England’s Genomics Education Programme:
- Counselling the code: genomic testing and insurance
- Facilitating Genomic Testing: Discussing Diagnostic Germline Genomic Tests
- Facilitating Genomic Testing: Introduction to Offering Genomic Tests
- Finding a genomic cause: the clinician’s role
- Genomics 101: Talking Genomics
- Introduction to the Counselling Skills used in Genomic Medicine
- Let’s Talk About… Communication Strategies
- The different types of genomic test results
- Royal College of Physicians: Consent and confidentiality in genomic medicine (PDF, 47 pages)
D. Considers the timing of testing, in particular after a sudden death or postpartum. (St, S, A)
Associated learning:
- NHS England’s Genomics Education Programme:
E. Appreciates and respects patient’s decisions and the potential reasons behind them, and is able to support the patient in a non-judgemental manner. (St, A)
Associated learning:
- Genetic Alliance: Genetic services and testing
- NHS England’s Genomics Education Programme:
F. Is aware of the relevant resources for signposting. (P, K)
Associated learning:
- NHS England’s Genomics Education Programme: Let’s Talk About…Genomic Testing
Charities and support groups:
- British Heart Foundation: Inherited heart conditions
- Cardiac Risk in the Young: Medical Information
- Cardiomyopathy UK: Genetics and cardiomyopathy
- Genetic Alliance: Genetic services and testing
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
STEP 3
Consent for testing
Competencies
A. Obtains patient consent in an individualised and non-coercive manner, with an appreciation of relevant professional guidance and legislation. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme:
- Royal College of Physicians: Consent and confidentiality in genomic medicine (PDF, 47 pages)
B. Understands the ethical, legal and insurance implications of genomic testing. (St, K)
Associated learning:
- NHS England’s Genomics Education Programme:
- Royal College of Physicians: Consent and confidentiality in genomic medicine (PDF, 47 pages)
C. Knows where to find relevant forms for recording consent, including record of discussion forms, and how to complete them in line with national and local governance processes. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme:
- Royal College of Physicians: Consent and confidentiality in genomic medicine (PDF, 47 pages)
D. Communicates how and when a patient will receive results. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme:
E. Considers recruitment of patients to research opportunities where appropriate. (G, S)
Associated learning:
- NIHR: Good Clinical Practice
E. Informs the patient/next-of-kin that variant reclassification can change over time. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme: The different types of genomic test results
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
STEP 4
Collection of sample, recording and requesting genomic testing
Competencies
A. Demonstrates where to find the test request form and how to complete it. (St, K, S)
Associated learning:
- NHS England:
- NHS England’s Genomics Education Programme: How to complete a record of discussion form
B. Understands and can follow local governance processes for sample collection and transportation to a regional Genomic Laboratory Hub. (St, S)
Associated learning:
- NHS England: National Genomic Test Directory
- NHS England’s Genomics Education Programme: Facilitating Genomic Testing: Data and Sample Management in the NHS GMS
C. Demonstrates familiarity with principles of the Human Tissue Act 2004, Data Protection Act 2018 and/or General Data Protection Regulation 2018 as they apply to the use of DNA and genomic data. (St, K)
Associated learning:
- gdpr-info.eu: General Data Protection Regulation
- gov.uk:
D. Ensures relevant referral forms are populated with complete phenotypic information and/or HPO terms. (St, S)
Associated learning:
- Human Phenotype Ontology: Clinician Guide (How to use HPO terms)
- NHS England’s Genomics Education Programme: GeNotes: Human Phenotype Ontology (HPO)
Workforce groups
Cardiologists, geneticists, ICC specialist nurses, ICC genetic counsellors, ward-based and outpatient clinical staff
ALL STEPS
Fundamental principles relevant to all steps
Competencies
A. Understands the fundamental principles of genomics and inheritance patterns. (G, K)
Associated learning:
- NHS England’s Genomics Education Programme: Genomics 101: Discover the role of genomics in healthcare
Publications:
- Wilde AAM, Semsarian C, Márquez MF and others. ‘European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases’. Europace 2022: volume 24, issue 8, pages 1,307–1,367. DOI: 10.1093/europace/euac030
B. Recognises and acts within professional and role-specific boundaries and competencies, and understands when to seek multidisciplinary support or when to refer to relevant specialists for further support. (G, A)
Associated learning:
- Association of Inherited Cardiac Conditions: Clinical ICC Pathways
- International Cardiomyopathy Network:
- Heart Muscle Talks (webinars)
Publications:
- Wilde AAM, Semsarian C, Márquez MF and others. ‘European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases’. Europace 2022: volume 24, issue 8, pages 1,307–1,367. DOI: 10.1093/europace/euac030
C. Knows how to access educational resources to support learning where relevant, such as Good Clinical Practice training and Genomics Education Programme courses. (G, K, S)
Associated learning:
- Association of Inherited Cardiac Conditions: Clinical ICC Pathways
- National Institute for Health and Care Research: Good Clinical Practice (GCP)
- NHS England’s Genomics Education Programme:
- The International Cardiomyopathy Network: Heart Muscle Talks (webinars)
D. Understands all relevant clinical pathways, including routes for accessing advice and support. Works collaboratively with colleagues and specialties when applying pathways and protocols. (G, K)
Associated learning:
- NHS England’s Genomics Education Programme:
Publications:
- Wilde AAM, Semsarian C, Márquez MF and others. ‘European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases’. Europace 2022: volume 24, issue 8, pages 1,307–1,367. DOI: 10.1093/europace/euac030
E. Demonstrates knowledge of the avenues of patient support, including resources and onwards referral, and communicates these to patients. Identifies when patients need additional support from another healthcare professional. (G, K, A)
Associated learning:
- British Heart Foundation: Heart Matters Magazine
- NHS England’s Genomics Education Programme: GeNotes: Cardiology
F. Applies the communication and counselling skills needed to engage and communicate effectively and in a compassionate manner with patients, their carers and the wider family. (G, S, A)
Associated learning:
- NHS England’s Genomics Education Programme: Let’s Talk About… Communication Strategies
G. Understands the importance of, and demonstrates, appropriate and effective written documentation and correspondence with patients and other healthcare professionals. (G, S)
Associated learning:
- NHS England’s Genomics Education Programme: Let’s Talk About… Communication Strategies
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
