How to develop and maintain a role in clinical genetics/genomics

Required 

• Primary Medical Qualification from UK or overseas 
• MRCGP or equivalent route to UK general practice (e.g., Certificate of Eligibility for GP Registration) 
• Full GMC registration with licence to practise on NHS performers list

Optional 

• MSc in Genomic Medicine: individual modules, Postgraduate Certificate in Genomic Medicine, Postgraduate Diploma in Genomic Medicine or complete MSc in Genomic Medicine. 
• Masters in Genomic Medicine - Genomics Education Programme

Factors to be considered and practical steps that can encourage the adoption of practices which reinforce good population and planet health in this area include:

• Implementing evidence-based care recognising efficient and appropriate use of resources, e.g. adhering to testing eligibility and surveillance criteria.
• Promoting the use of digital and online platforms for delivering services close to home and disseminating information to patients and families, such as telehealth, E-learning, and electronic patient information, that can reduce the need for travel, paper, and physical infrastructure.
• Applying the principles of green prescribing and advocacy for measures to improve the health of populations and the planet as well as individuals, for instance when discussing lifestyle factors such as smoking and physical activity.
• Engaging in collaborative and multi-disciplinary work with other professionals, organisations and stakeholders that can share best practice and resources for improving the quality and efficiency of services and in doing so, foster a culture of sustainability and environmental awareness.

A GPwER describes, demonstrates awareness and applies equality, equity, diversity and inclusivity considerations, in particular in relation to health inequalities and cultural sensitivities pertaining to Genomic Medicine and:

• Promotes diverse access to precision and genomic medicine services. This includes understanding of likely barriers and facilitators to access (for example practitioner knowledge, patient demographic, language, cultural context and beliefs, protected characteristics) to identify educational and service needs for better implementation practice.
• Understands additional barriers include mistrust, fear and suspicion of healthcare professionals, health systems and research. Acknowledging and understanding the reasons for mistrust are seen as key facilitators to improving engagement with services, testing and research.
• Understands the implications of protected characteristics, cultural context and beliefs for clinical delivery of genomic medicine; for example surveillance recommendations and reproductive implications for transgender people, influence of cultural factors, effect of ethnicity on prevalence of genetic conditions, marriage practice (consanguineous marriage).
• Considers specific groups such as those with Learning Disability, Neurodivergence, Looked After Children (LAC) including adoption
• Understands representation within genomic datasets, implications for generalisability across populations and interpretation of genomic results based on population datasets, varying prevalence of variants in populations.

To demonstrate capabilities associated with the extended role, we have taken the five areas of capability described in the RCGP curriculum as a starting point. These are based around the GMC's generic professional capabilities framework.

Being a GP

A. Knowing yourself and relating to others

Apply GMC Good Medical Practice principles to delivery of this role: application of professional attitudes and behaviours, maintaining an ethical approach and managing the factors affecting performance. With particular emphasis on:

• change management and driving performance
• collaboration and partnership working and decision-making
• influencing, negotiating, compassionate leadership, mentoring and training
• communication and team building with colleagues
• extended communication and consultation skills underpinned by principles of genetic counselling

B. Applying clinical knowledge and skills

A GPwER utilises and applies the learning outcomes described in the Academy of Medical Royal Colleges Generic Genomic Syllabus. A GPwER understands and applies the principles underpinning the application of genomic knowledge to clinical practice and shared decision-making with reference to principles of genetic counselling and relevant frameworks (including CPI, Facilitating Genomic Testing and Feedback of Genomic Test Results). This includes:

• Assessing when genomic testing is indicated and choosing the appropriate genomic test for specified clinical scenarios within multifactorial conditions and rare disease (including diagnostic and predictive testing)
• Knowledge and recognition of relevant clinical signs on examination
• Effectively obtain consent while respecting the unique ethical and confidentiality implications of genomic medicine
• Critical appraisal and interpretation of genomic test reports in the context of clinical presentation (family history, risk assessment, phenotyping)
• Communication of genomic test results
• Practice personalised medicine including the incorporation of Pharmacogenomics into patient care
• Ethical issues, confidentiality, psychosocial context, reproductive implications
• Informatics: Flow and recording of genomic data
• Handling Direct-to-Consumer testing results
• Delivering genomic testing within regional or local service delivery and governance infrastructure according to need, for example:
• Chromosome array and Next Generation Sequencing approaches such as Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES) and gene panel testing
• Familial cancer and inherited cancer predispositions syndromes
• Knowledge of specified rare disease e.g. Parkinson’s, Huntington’s, NF1, NF2, Schwannomatosis
• Understanding Lipid panels and Familial Hypercholesterolaemia
• Knowledge of Polygenic risk within common complex disease
• Knowledge of pharmacogenomics

C. Managing complex and long-term care

A GPwER delivers genomic testing within the context of holistic clinical care:

• Application of core GP skills to diagnosis of rare diseases (including inherited cancer predisposition syndromes) through phenotyping (e.g. skin examination for Neurofibromatosis Type 1).
• Risk assessment, facilitation of clinical management including surveillance and risk-reducing options.
• Applies and supports delivery of polygenic scores in disease susceptibility, risk stratification and overall clinical management.

A GPwER provides a comprehensive assessment in an extended consultation for patients with specified rare disease (e.g. NF1 and including inherited cancer predisposition syndromes), applying knowledge of the natural history, typical and atypical clinical features, recognition of ‘red flag’ features, appropriate and relevant investigations, surveillance and risk-reduction, patient information and education to support:

• Annual review and care co-ordination
• Sharing of relevant information amongst teams involved in the person's care in dedicated time
• Managing care transitions e.g. from paediatric to adult services
• Development of disease-specific care plans and treatment escalation plans for care co-ordination by or on behalf of their registered GPs.
• Specific clinical management issues e.g. contraception/HRT

Pharmacogenomics:

• A GPwER describes the nature, use and limitations of pharmacogenomic data, and applies to prescribing decisions, in particular in the context of multi-morbidity and polypharmacy.
• A GPwER describes the relevant guidance and infrastructure and can apply to prescribing decisions at an advanced level.

D. Working in organisations and systems 

A GPwER in clinical genetics/genomics:

• May undertake extended appointments independently or with other members of the team, including to support training of healthcare professionals.
• May support GPs to manage patients in the community or manage patients on behalf of their GP.
• Communicates and builds relationships on an individual, multi-professional and team basis with all levels of staff, operating within existing multi-disciplinary infrastructure.
• Enables collective responsibility.
• Works autonomously.
• Oversees management, reporting, and analysis.
• May provide a link between Clinical Genomics Services, other secondary care settings and GP.

E. Caring for the whole person, wider community and the environment

A GPwER in clinical genetics/genomics applies broad and advanced knowledge and understanding of clinical management issues pertaining to delivery of clinical genomics to the individual, family and within wider healthcare infrastructure, including:

• Effective use of resources, clinical pathways and care settings (includes choosing a genetic test appropriate to the clinical scenario, recognising when a test is not appropriate or helpful)
• Effective use of pharmacogenomic data to guide prescription choice and dosage
• Ethics and legal implications
• Consent and confidentiality implications of genomic medicine for the patient and family members
• Handling genomic samples and data, informatics
• Psychosocial issues for the patient and wider family including reproductive implications
• Active promotion of research opportunities for patients
• Equality and Diversity issues pertaining to genomic medicine

GPwER in clinical genetics/genomics - core capabilities Venn diagrams (PDF file, 451 KB)

In this section, we describe GP leadership in the extended role, highlighting aspects of leadership that are particularly relevant to the clinical genetics/genomics extended role. We refer to the Primary Care Genomics Advisors Framework which describes Leadership and Service Development activities and to the domains of the RCGP Leadership Capabilities Framework, as follows:

Demonstrating personal qualities

Given this is a team-based role, it is particularly important that the GPwER understands their own team working style and can develop their own values and behaviours in a team setting. The GPwER should also have the ability to represent the Primary Care perspective and utilise their Primary Care expertise in influencing care pathways and advising on clinical management issues within the team setting.

The GPwER in Clinical Genetics/Genomics is:

• a medical doctor who can manage risk, familial implications and biopsychosocial complexities well and has advanced communication and consultation skills
• able and willing to teach others (not necessarily with a formal education qualification but utilising recognised skills)
• able to hold the values of the team
• a compassionate leader, non-judgmental, respected and respectful
• able to demonstrate extensive and high level of working knowledge regarding ethical and legal frameworks, such as Consent and Confidentiality, and Code on Genetic information and Insurance

Working with others

Typically, the interpretation and utilisation of genomic information and clinical management of patients and families within the context of Genomic Medicine demands an MDT approach and collective responsibility, with recognition that everyone brings different skills, and an acceptance that each team member leads on certain aspects where their skills are required for the task (“leadership by all”). This requires trust amongst team members, a strong sense of value and shared mutual respect. The GPwER in clinical genetics/genomics will uphold these values, demonstrating compassionate leadership within the wider MDT and recognising that team discussion is integral to the role.

Managing services

Considering the complex and multi-system needs of the patient population, the GPwER needs to be a medical doctor who is skillful in managing risk, understanding ethical, legal and psychosocial issues and in navigating complex care pathways comprising multiple clinical and laboratory inputs.

Improving services

A GPwER in clinical genetics/genomics must develop skills and maintain their effectiveness in building relationships across teams, contributing actively to utilisation of the Genomic Test Directory, clinical pathway development and supporting primary care colleagues:

• Advocates primary care clinicians to effectively use the NHS National Genomic Test Directory (GTD) and supporting clinical pathways. May contribute to infrastructure supporting update request and annual review of test directory from a primary care perspective.
• Provides leadership and influence scoping of services and pathway mapping to identify gaps and align with GTD and NHS GMS.
• Provides leadership and active engagement in specific projects e.g. transformational and service delivery.

A GPwER in clinical genetics/genomics provides medical leadership in managing risk and complexity and resolve competing priorities through shared decision-making. It is necessary for the GPwER to promote a culture of openness and learning where everyone feels able to ask questions and make suggestions for service improvement.

Setting direction

In addition to the above leadership within service development a GPwER may:

• Provide Primary Care leadership in the development of blended, flexible educational resources and tools appropriate for Primary Care, tailored to the needs of patients and healthcare professionals regionally. Interacts with National Genomic education Infrastructure and other Primary Care Lead roles (e.g. GMSA).
• Lead on regional initiatives to foster learning in Primary Care so colleagues can use genomic data safely and effectively within clinical pathways for patient benefit.
• Represent primary care viewpoint on regional committees/boards (for example, GMSA GLH, Strategic Network for Genomic Medicine) to influence genomic strategies and directions.
• Act as an advocate for Primary Care: regarding capabilities, core role and constraints for Primary Care colleagues and services to ensure patient benefit with due consideration of existing workload and resources.
• Advise colleagues wishing to take on future genomic roles. May mentor and support development of colleagues.

This section explains how a GP can develop the skills, knowledge, and experience to undertake the extended role. This includes acquisition of core knowledge and skills relevant to the extended role laid out in the framework and Appendix 1 (syllabus). A GPwER should have an appropriate balance of practical and theoretical knowledge in relation to their extended role.

Training roles and opportunities are changing rapidly and currently vary in different areas. Opportunities available include Foundation training posts, integrated GP training posts in clinical genetics/genomics and other relevant Fellowships.

It can be valuable to shadow any pre-existing GPwER clinical genetics/genomics in place, or healthcare professionals (including doctors, specialist nurses and Genetic Counsellors) in Clinical Genomics Services or other services delivering genomic medicine and testing.

The opportunities above can enhance attitudes, skills, and knowledge in respect to:

• person-centred care and shared decision-making
• team working allowing collective responsibility across different professions and organisations/boundaries
• collaborative working and building relationships and mutual trust
• running a multi-professional meeting
• compassionate leadership
• ability to develop effective working relationships on an individual, multi-professional and team basis with all levels of staff
• ability to communicate effectively
• understanding of clinical governance and the individual responsibilities it implies.

The RCGP's position is that GPs are expert medical generalists and, as such, do not need formal accreditation in enhanced roles for which they have been trained. However, where formal accreditation is desired by a GP, programmes that offer accreditation should be made available. Refer to the RCGP Guide to GP Clinical Extended Roles (PDF file, 440 KB) for further information.

As for all doctors, GPs are required by the GMC to recognise and work within the limits of their competence and should refer to the GMC's Good medical practice for a description of what it means to be a good doctor.

It is worth noting that employers and service commissioners may have specific requirements relating to the provision of a GPwER service.

The evidence that a GPwER is keeping their requisite knowledge and skills up to date and maintaining their competencies should be reviewed through the GPwER's annual whole scope of practice appraisal. This should form part of the discussion of all external roles and include quality improvement activity such as case analysis and audit. This has replaced any need for periodic re-accreditation.

The RCGP would expect that, for a GP to describe themselves as a GPwER, at least some ‘core’ general practice should be maintained. This is because as a GP they bring important additional skills in practising holistically and dealing with complexity and uncertainty to their GPwER role. However, we acknowledge that some doctors (those who have trained as GPs) may have stopped general practice altogether. For such doctors, appraisals may be delivered through the acute trust.

Where there is a need for a GPwER to demonstrate at their annual appraisal that they remain safe, competent and up to date in their core general practice role, they may wish to utilise the Academy of Medical Royal Colleges' factors for consideration template (PDF file, 77 KB).

GP appraisal provides assurance to the Responsible Officer (RO) that the GPwER has trained for their role as a GPwER, that they are staying up to date in that role. GPs should seek and reflect on feedback and outcomes in the extended role including the outcomes from a performance review with a line manager or medical director or employer.