Editorial

Welcome to this InnovAiT special issue on genomics. Dame Sally Davies, in her annual Chief Medical Officer (CMO) report ‘Generation Genome’ stated: ‘Genomics is not tomorrow. It’s here today’. Genomics, alongside digital technologies, artificial intelligence and robotics, incorporates technological developments likely to change the NHS over the next two decades, with the promise of delivering healthcare on a more rational, efficient and tailored basis (Topol, 2019). Genomic medicine is not only having an impact on the diagnosis and treatment of cancer and rare diseases, but it also has potential to deliver truly personalised care in many other areas. Primary care is the co-ordinator and gateway for individual patient care within the NHS and thus integral to the delivery of genomic medicine. Despite this, primary care clinicians can find it challenging to access relevant educational resources in genetics and genomics. This special issue is intended to be a resource to support AiTs, trainers and established GPs in an area of medicine that will significantly affect patient care. Instead of revolution, we are talking about evolution in a sphere of medicine that brings together specialists, such as geneticists, bioinformaticians and laboratory scientists, to deliver the benefits of genomic technologies, including next generation sequencing (NGS). Sequencing of DNA has clinical utility and is now fast, timely and cost-effective. Patients will want informed discussion on the implications of results for them and their families. Herein lies the challenge of delivering personalised care and stratified diagnosis and treatment. Whiter et al. (2020) cover the principles of genomic testing and development of the infrastructure necessary to deliver and support an NHS literate in genomics (Bishop et al., 2020) led by the Health Education England Genomics Education Programme. Cancer genomics is explored in detail by Hayward et al. (2020). The article also illustrates the importance of family history taking, but also how a change in heath can influence subsequent care. The power of genomic technology applied to rare diseases (Evans et al., 2020b) brings hope in accelerating diagnosis for families who in the past would have had relatives left with an undiagnosed developmental disorder. Reproduction medicine has embraced the use of genomics for earlier diagnosis and can provide comprehensive pre-natal counselling that takes account of genomic results (Homfray et al., 2020). Similarly, the understanding of infectious diseases, including transmission, surveillance and vaccine development, increasingly involves genomics (Hayward and Rafi, 2020). In primary care, the management of multimorbidity and polypharmacy (Rafi et al., 2020) could be informed by pharmacogenomics, using the results of genetic variation in prescribing, some exemplars are already being used in other specialties. Genomic medicine offers plenty of ethical decisions and difficulties. The Accelerating Disease Detection programme aims to sequence 5 million whole genomes and will need a robust ethical framework, particularly in the feedback of results to patients. Spicer and Papanikitas (2020) highlight general ethical principles pertinent to our patients in the sphere of genomic medicine. Evans et al. (2020b) show us an ‘eye to the future’ in the final article discussing research, the need for better understanding of the role of polygenic risk scores, risk stratification and communication of genomic results in clinical practice. We thank all our excellent authors who have worked hard to produce a resource that we are sure will be of educational value, to promote a deeper understanding of genomics in the support of our patients and the anticipation of their needs. We thank the editorial team at InnovAiT and in particular the Editor, Dr Richard Draper, who has been enthusiastic and supportive from the start.