Advances in genomic technology and its applications to clinical care have led to increased utilisation of genomic testing across a growing number of specialties. The way that genomic testing will be accessed in the NHS is changing, with the implementation of a Genomic Medicine Service (GMS) including national genomic test directories that outline the tests that will be commissioned by NHS England.
Whole genome sequencing will soon be available for certain rare disease indications and cancers, and will involve a ‘patient choice’ model of consent. This covers both the clinical implications of a test, as well as a research offer within the clinical pathway. There is therefore a growing need to provide a framework to support the development of the workforce who will be having these conversations with patients.
The framework
This competency framework identifies the core competencies required to facilitate and consent patients for germline genomic tests. The Genomics Education Programme has developed this framework in collaboration with healthcare professionals from across the health service. Each competency is provided with links to supporting evidence-based educational resources.
Importantly, the individual competencies in this framework should be interpreted in the context in which a healthcare professional is offering genomic testing, considering their scope of practice. Not all competencies, or parts of a competency, will be applicable for all healthcare professionals, or in all clinical situations or settings. This framework has been designed to be a developmental tool to support individuals and organisations. It is not indented to be used as a grading or an assessment tool.
For more information about the framework, how it was developed, and how it can be used, please see the FAQs.
The competencies
The framework identifies eight areas of proficiency for health professionals facilitating and consenting patients to genomic testing.
RECORDING CONSENTCLINICAL KNOWLEDGETEST FACTORSPURPOSE & PROCESSRESEARCH ASPECTCONSENT CONVERSATIONONGOING CARESUPPORT ROUTES
1. 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
- Demonstrates familiarity with the National Genomic Test Directory and adheres to this guidance when offering genomic testing, including the funding model, sample requirements and local requesting pathways.
- Understands the national and local processes for changes to consent (i.e. at age 16 with capacity, for additional tests, when a patient changes their mind about having the test).
- 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.
Supporting resources
2. Demonstrates up-to-date knowledge of the conditions occurring within their specialist area for which genetic or genomic testing may be offered
- Understands general genetic concepts, the inheritance and mechanism of disease.
- Is able to elicit a family history to assess the risk of one or more conditions.
- Understands how conditions may present and the variability of clinical presentations.
- Knows the likelihood of the patient’s presenting condition having a genetic basis, versus other possible factors (i.e. behavioural, social, environmental) that may contribute.
- Recognises the different implications of somatic versus germline analysis.
Supporting resources
3. Assesses where genomic testing is appropriate in the patient’s clinical pathway
- Knows why a test may or may not be offered.
- Considers ethnic and/or population-specific factors that may influence the type of test being offered.
- Is aware of alternative tests to the genomic test being offered, if applicable.
- Knows of possible future test options and choices, pending the results.
- Recognises when it would be appropriate to offer genetic testing to children.
Supporting resources
4. Conveys to patients the purpose and process of the clinical test being offered
- Explains the context of the test (diagnostic, predictive or carrier).
- Outlines the scope and limitations of the test based on the technology being used.
- Explains the possible results and the turn-around time and feedback process for any results.
- Describes the potential relevance of the test for that patient/family, including clinical actions that may or may not be taken.
- Explains possible unexpected results (incidental findings).
- Describes the potential uncertainty of genomic information, and the iterative nature of analysing results.
- Describes how samples and data may be used, stored and accessed.
- Outlines the familial implications of results and the importance of sharing results with relatives.
- Understands the Code on Genetic Testing and Insurance.
Supporting resources
5. Explains and answers questions relating to the National Genomic Research Library* where applicable
- Outlines the potential benefits and risks of data and sample use, storage and sharing on personal, familial and societal levels.
- Describes how samples and data may be used, stored and accessed.
- Explains the process of partial or complete withdrawal of consent for research at any time.
*Based on research offer in the 100,000 Genomes Project, and initially only applicable to whole genome sequencing indications in the GMS.
6. Applies core clinical skills to the genomic test conversation
- Assesses capacity according to the Mental Capacity Act 2005 and other guidelines (such as Gillick competency).
- Establishes the patient’s understanding and expectations of the genomic test being offered.
- Employs effective communication skills to support decision making and enable patients to make a choice without coercion or bias.
- Tailors provision of information based on the patient’s cognitive ability, age and language.
- Engages with all individuals present in the discussion and incorporates the potentially different views of family members.
- Addresses the psychosocial impact of genomic testing and risk, taking into consideration the impact of disease on the individual and/or family.
- Considers the factors that may influence an individual’s choice to consent, including additional physical and mental health history; cultural, religious, familial and personal values; and timing of the conversation with respect to the patient’s care and/or other life events.
- Respects the patient’s right to decline the genomic test, and is able to explain potential implications, limitations, and/or alternatives for the patient’s care.
7. Recognises one’s ongoing responsibilities to the patient and acts when appropriate
- Understands that duty of care may extend beyond the initial feedback of genomic findings.
- Is able to inform relevant professionals involved in managing the patient’s care and initiate onward referrals to other specialists.
- Knows of patient resources, support groups, and eligibility criteria for research (where applicable).
Supporting resources
8. Seeks further assistance, where relevant, based on scope of practice
- Knows how to contact their local genomics laboratory, Clinical Genetics service and multidisciplinary review meetings if relevant.
- Can recognise and understand one’s professional responsibilities and boundaries, and when to refer to relevant specialists for further support or patient management.
- Knows how to access educational resources to support learning where relevant (such as Good Clinical Practice training and Genomics Education Programme courses).
Supporting resources
Categories of experience
The competency framework is designed around four categories of healthcare professionals, based on their training and experience with genomics.
A training needs analysis was conducted by the GEP (via the education and training leads in each Genomic Medicine Centre) in 2016-17 during the delivery of the 100,000 Genomes Project, to identify current and future education and training needs of NHS staff. Results from this analysis have been used to outline four broad categories of healthcare professionals, based on their training and experience with genomics.
Clinical leaders and educators may find it helpful to develop training based on these groups, although individuals within each group will have varying levels of experience. The competency framework mapped to these broad categories can be found here.
| Category | Examples of healthcare professionals | Comments regarding experience |
|---|---|---|
| A. Genetic / genomic specialists | Clinical geneticists, genetic registrars, genetic counsellors, specialist nurses in clinical genetics | Experience of consenting for complex genetic and genomic testing, as well as often for research projects. Also has experience of returning results for patients, which will influence their consent practice. |
| B. Consenters for genomic research projects (eg 100,000 Genomes Project) | Research nurses, bio-bankers, research trials co-ordinators, mainstream clinicians | Familiarity with the process of consent to a genomic test, although varying levels of competence expected depending on the nature of the research study and familiarity with clinical pathways. |
| C. Mainstream clinicians | Specialist consultants and registrars, specialist nurses, midwives, community paediatricians, GPs | Includes diagnostic tests to confirm a clinical diagnosis within area of expertise. Will have experience in consent for genetic/genomic tests, but level of complexity and experience returning results may vary. Overall less extensive training than Category A, and may or may not have been involved in research featuring genomic testing. |
| D. Healthcare professionals who have never consented for a clinical or research genetic / genomic test | Healthcare professionals as listed in C | May have some or no knowledge of genomics and how it relates to their role. |
Frequently
asked questions
What is the framework?
The framework has been designed as a cross-professional guide for best practice for any clinician offering germline genomic testing, which may include whole genome sequencing, panel, microarray or single gene tests for diagnostic, carrier or predictive testing purposes. Conversations about genomic testing may be led by different individuals depending on the context of the test and clinical pathway. It is therefore imperative that professional judgement based on an individual’s scope of practice is considered when reflecting on these competencies.
How can this framework be used?
This framework has been designed to be a developmental tool to support individuals and organisations. It is not intended to be used as a grading or assessment tool.
It can be used as a guide for individual healthcare professionals to recognise learning needs. For those delivering training, the framework provides a mechanism to identify the training needs of healthcare professional groups, and to structure the development of training such that the consent conversions about genomic testing can be delivered in a consistent manner across specialties. In addition, these competencies can be used as a reference to evaluate how consent is being facilitated in different specialty areas to enhance the delivery of genomic medicine.
How was the framework developed?
The methodology for reaching consensus on this framework is founded on the nominal group technique. An initial framework was developed based on existing literature and experience of the GEP. On 12th February 2019, a one-day expert consensus meeting with healthcare professionals in various disciplines reviewed clinical scenarios in iterative rounds, mapped themes to the framework and voted on areas of inconsistency.
A revised framework was open for consultation with individual healthcare professionals, professional bodies and medical Royal Colleges in April and May 2019. As well, feedback was gained from rare disease and cancer patient communities via Genetic Alliance UK, Macmillan and the 100,000 Genomes Project participant panel, to ensure that the patient narrative was incorporated into discussions about genomic testing.
How can I give feedback on the framework?
The framework will guide the development of future tools and resources developed by the Genomics Education Programme, and it is anticipated that it will be reviewed on a regular basis.
We would be grateful for your feedback on this framework and how you have used this in practice. If you have further questions about the framework and/or would like more information about how it was developed, please contact us.
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