Clinical genetics/genomics in general practice

The GP as a generalist is highly skilled in care co-ordination, signposting and utilising existing local resources, managing complexity, risk assessment, communication skills including communication of risk, ensuring safe and quality prescribing within the primary care setting and promoting screening programmes and healthy lifestyle.  These skills are echoed in the RCGP Curriculum Topic Guide for Genomic Medicine which includes the following activities within the role of a GP:

• Take and consider family histories in order to identify families with, or at risk of, genetic conditions and familial clusters of common conditions such as cancer, cardiovascular disease and diabetes.
• Identify patients and families who would benefit from being referred to appropriate services.
• Manage the day-to-day care of patients with genetic conditions, even if the patient is under specialist care.
• Co-ordinate care across services, including transitions from paediatric to adult services.
• Communicate information about genetics and genomics.
• Understand how genomic information is used within the context of routine clinical practice.

Definition of a GPwER

The RCGP defines a GP with Extended Role (GPwER) as:

A GP with a UK licence to practise, who is maintaining a primary care medical role, but undertaking an activity that is beyond the scope of general practice and requires further training.

Extended roles are typically undertaken within a contractor setting that distinguishes them from standard general practice and involve an activity offered for a fee outside the care provided to the registered practice population. GPwERs often receive referrals for assessment and treatment from outside their immediate practice and undertake work that attracts an additional or separate medical indemnity fee.

• RCGP guide to GP Clinical Extended Roles, 2021 (PDF file, 440 KB)

For a GP to describe themselves as a GPwER their clinical activity and competence in core general practice should be maintained.

This role utilises and extends the core and generalist skills above to deliver genetic counselling, genomic testing and care co-ordination for specified patient populations:

• Communication and counselling for specified diagnostic and predictive genetic and genomic tests for genetic disorders or which support risk stratification, for which Primary Care is not a requesting specialty within national testing criteria (for instance Genomic Test Directory in England).
• Care of patients with specified rare diseases (many of which involve multiple organ systems) which require specialist clinical expertise outside core Primary Care, with particular focus on key transitions such as paediatric to adult care and making reproductive choices.
• Providing pharmacogenomic testing and application of results in delivery of genomics-informed prescribing in context which may include multiple morbidities and polypharmacy.
• Expert support for primary care colleagues in assessment of risk and care co-ordination for single gene disorders and multifactorial conditions, including surveillance.
• Application of generalist and holistic care to patients with genetic conditions or familial / inherited risk, for example in prescribing, surveillance, care co-ordination and specific clinical management scenarios such as contraception and HRT advice.
• Care of patients and expert support for primary care colleagues regarding clinical pathways in which genomic information is utilised within clinical care, for instance circulating tumour DNA (ctDNA) and somatic tumour testing. 

This role is relevant to the entire patient population. Assessment of the whole family is also integral, including deceased family members, the unborn child and future planned pregnancies, both in collating necessary information while following guidance (for instance confidentiality and tissue sample handling) and in facilitating dissemination of results and information among family members.

A GPwER in Clinical Genetics / Genomics can be based in Clinical Genomics Services, any secondary care system delivering genomic testing or caring for those with a genetic condition or inherited increased risk, or they may be working in a community service or Alternative Qualified Provider (AQP) setting across a geographical area where practices call on this GPwER for support as required.

Examples of a community setting could include Genomic Medicine, Community Epilepsy, Cardiology or Paediatric clinics, or in collaboration with Familial Hypercholesterolaemia or Medicines Optimisation services. A GPwER could directly provide care or input into an MDT setting to inform identification of, delivery of genomic testing and wider clinical management to eligible patients. 

Referrals may come from a variety of sources in accordance with the service specification for the care setting in which the role is located.

A GPwER in clinical genetics/genomics works autonomously as a GP, but governance may vary depending on the organisation delivering the service. The mechanism for access to expert advice and supervision (e.g. Consultant from Clinical Specialties or Laboratory) should be explicitly outlined.

The GP appraisal covers the whole scope of a GP’s practice ensuring GPs with extended roles, including those working in clinical genetics/genomics maintain a high standard of care, engage in continuous professional development, and provide effective and safe services to individuals. It promotes accountability, improvement, and excellence in their specialised areas of practice.

As a GP, a GPwER in clinical genetics/genomics should bring evidence that they are maintaining competence in this role to their GP appraisal. GPwERs employed outside of their Practice should be given a performance review by their employer or line manager and they should provide the outcomes as part of their whole scope of practice in their appraisal portfolio.

They should:

1. Evidence their performance, ongoing professional development, and engagement. This evidence may include patient cases, audits, educational activities, and feedback from patients and colleagues.
2. Reflect on their experiences, challenges, and successes in managing cases. Reflective discussions help identify areas for improvement and develop strategies to enhance their practice and patient care.
3. Obtain feedback from peers, colleagues, MDT members, and patients in line with GP Appraisal requirements. If a significant part of an NHS GP’s work is as a GPwER then the GPwER could best demonstrate feedback in their role by additional colleague and/or patient surveys from this role in addition to their surveys in core general practice.
4. Maintain a CPD portfolio that documents their participation in relevant educational activities, courses, conferences, and workshops related to their GPwER role. This portfolio showcases a commitment to ongoing learning and development.

GPs with extended roles undergo revalidation every five years, to maintain their licence to practise.

The GPwER in clinical genetics/genomics may interface with:

• Primary Care
• Clinical Genomic Services
• Secondary Care specialties, including MDTs
• Specialist Tertiary and Quaternary services, including MDTs (for example National Complex Neurofibromatosis Service, National Bowel Cancer MDTs)
• Pharmacy
• Genomic Test Directory
• Genomic Laboratories
• Pathology Laboratories
• Population and Public Health Registries (e.g. National Cancer Registry)
• Disease and Surveillance Databases and Registries (e.g. National Lynch Syndrome Database, National Familial Hypercholesterolaemia Database)
• Community Teams
• Third Sector Organisations

The time commitment for a GPwER in clinical genetics/genomics is flexible.

Employment arrangements for the GPwER in clinical genetics/genomics may vary according to local infrastructure and service needs. They may be directly employed or seconded/sub-contracted from their primary employer to a Hospital Trust, Integrated Care Board or Primary Care Network (or equivalent in the devolved nations) or other service providers. The GPwER in clinical genetics/genomics could be a partner, a salaried GP or locum/sessional GP. Their contract will stipulate that they are a GP employed to provide clinical genetics/genomics-focused care.