Genomics toolkit

Impact of genomics in primary care

This section provides links to resources and articles which outline the impact of Genomics within Primary Care.

• The BJGP editorial, "Genomics in routine clinical care: what does this mean for primary care?" outlines how Genomics may impact on Primary Care with Rare Disease and Common Complex Disease including Cancer which are currently the main clinical areas of impact.
• Brief video clips introduce Genomics, impact within Primary Care, and the role of the GP in management of individuals and family with rare disease.
  • Rare Disease: The GP's role (Dr Sarah Jarvis and Professor Nadeem Qureshi, GPs)
  • Genomics in Medical Specialties - Primary Care (Dr Jude Hayward, GP)
  • Introducing Genomics in Healthcare (Vivienne Parry, Science Writer and Broadcaster)
• Generation Genome: The Annual Report of the Chief Medical Officer Dame Sally Davies (2016) describes how Genomic Technologies can benefit patients, and provides recommendations for NHS Systems and Services, Research, Data and Regulation, and engaging staff and patients.
• The Topol Review (2019): Preparing the healthcare workforce to deliver the digital future, identifies Genomics, Artificial Intelligence (PDF) and Digital Medicine as the key technologies to impact on the NHS, and makes recommendations for deployment and implementation within the NHS.
• A Genomics England public dialogue, co-funded by Science Wise and delivered in partnership with Ipsos Mori: A Public dialogue on genomic medicine: time for a new social contract?. This report explores public aspirations, concerns, expectations and limits regarding delivery of genomic medicine and use of genomic data.
• Rare diseases are individually rare but collectively common, with a prevalence of 1 in 17, the majority have an underlying genetic basis. Rare diseases in general practice: recognising the zebras among the horses, provides an overview of detection and management in primary care, and the impact of genomic testing.
• Should UK primary care be an early adopter of genomic medicine. This editorial began as a debate presented at the 2017 RCGP annual conference and summarises the potential benefits and harms of genomic medicine in the context of primary care.
• Non-invasive prenatal testing: use of cell-free foetal DNA in Down Syndrome screening. An explanation and overview of non-invasive prenatal testing (NIPT) within national the national ante-natal screening programme. Results from ante-natal and new born screening programmes are mostly dealt with by midwives and health visitors, but primary care practitioners may be asked by patients to discuss results.
• Epigenetics in Primary Care explains the concept of Epigenetics and outlines how it impacts on clinical management within primary care.