Should UK primary care be an early adopter of genomic medicine?

摘要

Increasingly, genomic data are being used for the diagnosis and treatment of disease, and in due course could be used for the prevention of disease.1 Following multiple endorsements of genomic medicine in 2018, UK Secretary of State for Health and Social Care, Matt Hancock, announced in January 2019 the development of a direct-to-consumer service for whole-genome sequencing, with provision for ‘customers’ to donate their data for research purposes.2 We present a dissensus — arguments why UK primary care should, and why it should not, be an early adopter of this technology, in order to understand its ethical aspects.Genomic medicine is already with us in the NHS. The 100 000 Genome Project (https://www.genomicsengland.co.uk/) has generated regional genomic medical centres, which will help in determining the clinical utility of gene variants. We already have genomic databases that aim to link genotype with phenotype.Anyone in the UK, including patients and their families, can pay for an over-the-counter genetic test that provides information on long-term conditions, such as asthma or hypertension, as well as information about personal traits. There is a duty to respond to their needs for knowledge, and consider targeted treatments and avoidance of potentially harmful treatments that are unlikely to work. We have to understand the opportunities and limitations presented by patients turning up with genomic information to discuss, and GPs will identify learning needs as a result of exposure to genomic conversations with patients.By definition, the genomic patient has acquired a disorder through no fault of their own but by reason of being born. …