Annual Report 2024
Activities
Following its reinvigoration in 2023 the Applied Genetics SIG has continued to expand in 2024, strengthening collaborations, research, and workforce development in genomics in primary care.
At the SAPC Annual Scientific Meeting (ASM) in July 2024, the SIG clarified its objectives and discussed current research areas, emerging challenges, and strategic priorities for the future.
Key research themes include:
• Pharmacogenomics – exploring integration into prescribing practices.
• Cancer risk prediction – genomic stratification for screening.
• Diabetes – genetic stratification and monogenic diabetes research.
• Cardiovascular genetics – genomic approaches to familial hypercholesterolemia and inherited cardiac disease.
• Genomic literacy & education – identifying training needs for primary care clinicians. Current and in development external collaborations of the SIG include:
• Primary Care Workforce Group for Genomics (supporting GPwER roles in Clinical Genetics/Genomics). ( a key UK based group)
• WONCA to align international and UK-based genomic primary care research efforts.
• Early Career Workforce Group to ensure long-term sustainability and development of genomics expertise in primary care.
Clarified Objectives
1. Build a network of researchers interested in the role of genomics in primary care.
2. Provide opportunities for interdisciplinary collaboration in genomics research.
3. Facilitate a forum for knowledge-sharing and discussion, enabling idea generation and research proposal development.
4. Act as a central point of contact for those seeking expertise in genomics in primary care.
5. Encourage new research interests in genomics and provide mentorship/support to early career researchers.
6. Establish formal links with other key genomics-focused groups
Future Plans
Regular Meetings: Establish recurring meetings every 4–6 months to sustain collaboration and engagement.
• Workshop on Primary Care Genomics: Organizing a broadly inclusive workshop to define research priorities, leading to a position paper outlining key future directions.
• Strengthening Workforce Development: Supporting the GPwER in Genomics initiative and expanding genomic education efforts.
• Enhancing External Engagement: Strengthening links with WONCA, HEE SIGs, UK Pharmacogenetics & Stratified Medicine Network, and GMSAs. Evidence of impact of the SIG Increased Visibility: SIG members have presented at major conferences, including the BJGP Annual Conference and NHS Genomics Conference. • Academic & Policy Engagement: Members continue to serve as academic GP advisers for Genomics England, Future Health, MHRA, and the Generation Study.
• Collaboration with Workforce Groups: Active engagement with the Primary Care Workforce Group for Genomics and members have supported the development of the recently published RCGP framework for GPwER roles in Clinical Genetics/Genomics.
• Primary Care Leadership in Genomic Medicine: SIG members serve as Primary Care Leads within Regional Genomic Medicine Service Alliances (GMSAs), contributing to genomic implementation in primary care.
Outcomes from SIG meeting at last SAPC ASM
Clarification of SIG objectives, incorporating a stronger focus on workforce development and formal external collaborations. Agreement to enhance engagement with key genomic research and policy groups. Commitment to organising a workshop, with the output being a position paper on primary care genomics research priorities.
How affiliation with SAPC has helped the SIG
SAPC affiliation has provided a valuable platform for collaboration and dissemination, facilitating engagement with a broader academic audience. The annual ASM has played a crucial role in refining research directions, supporting workforce development, and strengthening genomic research in primary care.
The SIG remains committed to advancing genomics research, education, and workforce development in primary care. We welcome new members and look forward to continued progress in 2025.