Cardiologists, geneticists, ICC specialist nurses, ICC genetic counsellors and ICC multidisciplinary team members
STEP 1
Interpret germline test report as ‘variant of uncertain significance’
Competencies
A. Ensures that the patient report matches the correct patient with at least three correct patient identifiers. (St, S)
Associated learning:
- Core training typically obtained as part of the professional skill set
B. Ensures that the genomic report is the most recent and correct/expected for the test that was requested. (St, K, S)
Associated learning:
- Core training typically obtained as part of the professional skill set
C. Determines whether any genomic variant has been identified, its classification as outlined in the laboratory report and any implications for the patient. (St, K, S)
Associated learning:
- Clinical Sequencing Exploratory Research Consortium: Guide to Interpreting Genomic Reports: A Genomics Toolkit (PDF, 36 pages)
- NHS England’s Genomics Education Programme:
D. Liaises with other professionals (such as multidisciplinary teams, clinical genetics services and Genomic Laboratory Hubs) regarding any queries relating to the result. (St, S)
Associated learning:
- Clinical Sequencing Exploratory Research Consortium: Guide to Interpreting Genomic Reports: A Genomics Toolkit (PDF, 36 pages)
- NHS England’s Genomics Education Programme: Let’s Talk About… Variants of Uncertain Significance
E. Understands the implications of a ‘variant of unknown significance’ (VUS) result, including the difference between a ‘hot’ or ‘cold’ VUS, and how the interpretation of a result can change. (St, K)
Associated learning:
- Clinical Sequencing Exploratory Research Consortium: Guide to Interpreting Genomic Reports: A Genomics Toolkit (PDF, 36 pages)
- NHS England’s Genomics Education Programme:
F. Identifies what may be needed to clarify a genomic result where relevant, including those outlined in the laboratory report, and refer where appropriate. (St, K, S)
Associated learning:
- Clinical Sequencing Exploratory Research Consortium: Guide to Interpreting Genomic Reports: A Genomics Toolkit (PDF, 36 pages)
- NHS England’s Genomics Education Programme:
Workforce groups
STEP 2
Inform patient/next-of-kin of patient’s result
Competencies
A. Arranges feedback of the result to the patient, ensuring it is done in an appropriate setting and format, as well as at an allocated time. (St, S)
Associated learning:
- NHS England’s Genomics Education Programme:
B. Uses effective and appropriate genomic communication skills to communicate the result of the genomic test. (St, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
- NHS England’s Genomics Education Programme:
C. Explains that variation in the genome is common, and not all are disease-causing, and why the significance of this variant found has been reported as uncertain. (St, K, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
- NHS England’s Genomics Education Programme:
D. Informs the patient/next-of-kin that variant reclassification can occur. (P, K, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
- NHS England’s Genomics Education Programme:
E. Obtains any new information learned about the patient’s phenotype and/or family history that may inform the future management plan. (St, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
F. Outlines the implications for any current or future clinical management, if relevant. (St, K, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
- NHS England’s Genomics Education Programme:
G. Responds to patient’s queries, or facilitates referral or signposting to an alternative source of information (such as other healthcare professionals, patient resources and support groups). (P, K, S)
Associated learning:
- NHS England’s Genomics Education Programme:
Charities and support groups:
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
STEP 3
Inform patient/next-of-kin of family implications
Competencies
A. Describes potential clinical screening options for family members. (St, K, S)
Associated learning:
- NHS England’s Genomics Education Programme:
B. Conveys the importance that the patient and family should provide any relevant medical or family histories, as this may have an impact on their future care or screening. (St, S)
Associated learning:
- Core training typically obtained as part of the professional skill set
C. Responds to queries, or facilitates referral or signposting to alternative sources of information, such as other healthcare professionals, patient resources and support groups. (P, K, S)
Associated learning:
- British Heart Foundation: Genetic (or genomic) testing
Charities and support groups:
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
STEP 4
Management plan
Competencies
A. Ensures that the result is documented appropriately as per national and local processes, and it is communicated to relevant healthcare professionals who would benefit from knowing the result. (St, S)
Associated learning:
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
- Zeppenfeld K, Tfelt-Hansen J, de Riva M and others. ‘2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC)’. European Heart Journal 2022: volume 43, issue 40, pages 3,997–4,126. DOI: 10.1093/eurheartj/ehac262
B. Acts on local, national and international clinical guidelines to devise an ICC management plan, and facilitates onward referrals to other specialists in accordance with any multidisciplinary team discussion. (St, K, S)
Associated learning:
- National Center for Biotechnology Information (search for relevant material via any relevant search term, for example: (“inherited cardiac condition” OR “inherited cardiac conditions”) AND “management”)
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
- Zeppenfeld K, Tfelt-Hansen J, de Riva M and others. ‘2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC)’. European Heart Journal 2022: volume 43, issue 40, pages 3,997–4,126. DOI: 10.1093/eurheartj/ehac262
C. Follows local processes for referring eligible patients to clinical genetics service. (St, K, S)
Associated learning:
- NHS England’s Genomics Education Programme: GeNotes: Clinical genetics services map
D. Communicates a clear plan to the patient/next-of-kin for follow-up, including the time frame (specific or open-ended), mechanism (such as telephone or face to face) and appropriate contact information for any queries. (St, S)
Associated learning:
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
- Zeppenfeld K, Tfelt-Hansen J, de Riva M and others. ‘2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC)’. European Heart Journal 2022: volume 43, issue 40, pages 3,997–4,126. DOI: 10.1093/eurheartj/ehac262
Workforce groups
Cardiologists, geneticists, ICC specialist nurses and ICC genetic counsellors
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:
B. Recognises and acts within professional/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:
- NHS England’s Genomics Education Programme
- The International Cardiomyopathy Network: Heart Muscle Talks (webinars)
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:
- National Institute for Health and Care Research: Good Clinical Practice
- NHS England’s Genomics Education Programme:
D. Understands all relevant clinical pathways, including routes for accessing advice and support, and works collaboratively with colleagues and across specialties when applying pathways and protocols. (G, K)
Associated learning:
- Association of Inherited Cardiac Conditions: Clinical ICC Pathways
- The International Cardiomyopathy Network: Heart Muscle Talks (webinars)
- 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 all 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:
- NHS England’s Genomics Education Programme: Genomics 101: Discover the role of genomics in healthcare
Charities and support groups:
F. Applies the communication and counselling skills needed to engage and communicate effectively in a compassionate manner with patients, their carers and the wider family. (G, S, A)
Associated learning:
- Core training typically obtained as part of the professional skill set
G. Understands the importance of, and demonstrates, appropriate and effective written documentation and correspondence with patients and other healthcare professionals. (G, S)
Associated learning:
- Core training typically obtained as part of the professional skill set
H. Considers recruitment of patients to research opportunities where appropriate. (G, S)
Associated learning:
- National Institute for Health and Care Research: Good Clinical Practice
Workforce groups
Cardiologists, geneticists, ICC specialist nurses, ICC genetic counsellors and ICC multidisciplinary team members
