Genomics medicine: new hope in diagnosis, treatment and disease prevention

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03 January 2020

Dr Judith Hayward and Dr Imran Rafi, Joint RCGP Clinical Champions for Genomics

Advances in technology offer new hope in diagnosis, treatment and disease prevention. This is pertinent in genomic medicine, which is seen by the Department of Health and Social Care and NHS England as the future in the delivery of personalised tailored medicine. The RCGP recently launched a Genomics Medicine toolkit to support GPs and their teams to better understand genomics medicine and how it can contribute to improving patient care.

NHS England and the Department of Health and Social Care are investing in the future of genomics, including infrastructure changes, reorganisation of laboratory and clinical services and a programme of education and training across all specialists.

Patients want to understand what genomics means to them

While these changes are key for the future of healthcare, it is important that general practice has a voice when it comes to implementing genomic medicine in clinical care. The RCGP has been working with colleagues at the National Institute for Health Research (NIHR), NHS England, Health Education England and the British Society for Genomic Medicine to prepare and support GPs and primary care health professionals as the impact of genomic medicine continues to grow and develop.

Patients increasingly want to understand what genomics means for them. GPs and their teams are well placed with skills to highlight the value, but also inform people what the limitations of genomic information might be.

Working with Health Education England Genomics Education Programme, the RCGP Genomics project has developed a series of resources for primary care health professionals, including podcasts, webinars and the recently launched Genomics in Medicine toolkit

Direct to consumer genetic testing

Because of the rise of genomics testing, it is becoming common for patients to visit their GPs with genomic issues and questions relating to them and their family members. Recently, the RCGP jointly published a position statement on direct to consumer genetic testing with the British Society for Genetic Medicine. This highlights the limitations of such tests and the role of the GP when consulting patients  who bring their genomic printout to an appointment.

The ‘Preparing Primary and Community Care in the NHS for Genomic Research: a joint report by the NIHR CRN and RCGP’ was recently published containing recommendations to help prepare and promote genomic research in primary and community care. The report covers three workstreams that looked at preparedness in family history reporting; the recording of genomic abnormalities through clinical data systems; and the recording of detailed phenotypic traits.

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