Purpose
This framework provides guidance for GPs who identify with providing or an ambition to fulfil a role beyond that expected of every GP. You may already have a special interest in Clinical Genetics / Genomics from roles before Certificate of Completion of Training (CCT) or developed an interest since becoming a GP. Alternatively, you may want to vary your career and expand your portfolio to offer this as a service or be employed to provide patient care for a commissioned service. If you are already acting as a GP in Clinical Genetics / Genomics, this framework offers a benchmark and recommendations for professional development with suggestions for further progression.
In addition, the framework aims to support employers and service leads to create relevant role descriptions and supporting resource and to help appraisers in interpreting supporting information presented to them from GPs in this type of role.
The role described in this framework, which we refer to as a “GPwER in Clinical Genetics / Genomics” hereafter, is delivered within a multi-disciplinary model. This is a type of healthcare and support given to people who have, or who are at risk of, an inherited condition or increased inherited risk, as well as conditions that arise as a consequence of an individual’s genome interacting with their environment.
It is recognised that several variations of this role are likely to exist, each designed around local and regional health population needs. Therefore, the framework does not seek to establish a rigid uniform model, rather it offers guidance around the potential scope of the role and ‘good practice’ that we hope is practically helpful and universally relevant.
Acknowledgements
We would like to thank the lead authors Dr Jude Hayward and Dr Ed Miller for their work in support of the development of this framework in collaboration with the National Genomics Education Programme. This work was also supported by the National Genomics Education Programme Primary Care Genomic Advisors Framework.
We would also like to acknowledge the contributions of the task and finish group, a sub-group of the National Genomics Education Programme Primary Care Workforce Group:
- Dr Maarit Brooks
- Dr Steven Bunce
- Dr Will Evans
- Dr Anwar Khan
- Dr Mark Norman
- Dr Imran Rafi
- Dr Nicola Robinson
- Dr Johanna Wong
We would also like to thank Professor Kate Tatton-Brown and Dr Ros Jewell for providing expert Clinical Genetics input.
With additional input from the RCGP Professional Standards Working Group. The final guide is solely the responsibility and copyright of the RCGP.
Declarations of interests by authors
Dr Edward Miller
- Education Specialist for NHS England’s National Genomics Education Programme
Dr Will Evans
Pecuniary:
- Previously received research funds from:
- NIHR
- consultancy fees received from:
- Mendelian (a digital health tech company, previously an employee and current shareholder)
- Sanofi
- Orphazyme
- Intrabio
- Has also provided RCGP educational sessions and authored e-learning modules
Non-pecuniary:
- Member British society of genetic medicine
- Trustee of Niemann Pick UK (rare disease charity)
- Honorary assistant professor University of Nottingham
Dr Imran Rafi
Pecuniary:
- Reader Primary Care, City St George’s University of London
- Previously Primary Investigator HAPPY research study (CRN-listed research study jointly funded by InnovAiT UK and Congenica)
- Registrable shareholdings - Dr Imran Rafi Ltd
Non-pecuniary:
- Joint RCGP Clinical Rep for Genomic Medicine
Dr Jude Hayward
Pecuniary:
- Secondments to:
- National Primary Care Lead
- NHSE Genomics Education Programme
- Primary Care Lead, NEY GMSA
- Innovation Director, NW GMSA
- GPwSI in Genetics, Yorkshire Regional Genetics Service
- Previously Primary Investigator HAPPY research study (CRN-listed research study jointly funded by InnovAiT UK and Congenica)
Non-pecuniary:
- Joint RCGP Clinical Rep for Genomic Medicine
- Chair of Primary Care Workforce Group for Genomics
- GEP. Membership of CRG for Genomic Medicine
- Guideline Development Group member for NICE: Familial Ovarian Cancer
- Joint Primary Care lead for NEY GMSA
- Innovation Director, NW GMSA
Dr Mark Norman
Nothing to declare
Dr Steven Bunce
Pecuniary:
- Primary Care Lead SW GMSA
Dr Johanna Wong:
Pecuniary:
- Previously FSRH eSRH review group member and contributing eSRH author
- Recipient of an NIHR seedcorn grant in 2023 for primary care-based research and related training
- Shareholder Zoe Ltd
- Member of Primary Care GeNotes working group and contributing author
- Ad hoc author of educational modules and MRCGP AKT revision and practice questions for Study PRN and Learna Ltd
Non-pecuniary:
- Member of Primary Care Workforce Group for Genomics
- Member of Primary Care Genomics RCGP-curriculum working group
Dr Anwar Khan
Pecuniary:
- Medical Director, International Accreditation, RCGP
Non-pecuniary:
- Board member, North East London RCGP Faculty (Provost Emeritus)
Dr Maarit Brooks
Pecuniary:
- Joint Primary Care Lead SW GMSA
Non-pecuniary:
- Member of Primary Care Workforce Group for Genomics, GEP
Framework review
Date the framework was approved: December 2024
Date for next review: December 2027