ABSTRACT

This chapter explores some of the aspects of what is often termed the 'new genetics' as applied to primary care in the British National Healthcare Service (NHS). Genetics, the study of heritability, has promised much over recent years to the personalised care of patients, perhaps more than it has actually delivered. Genomics, a more often used term in current literature and not qualitatively very different to genetics, reflects a more holistic understanding of the influence of the genome on health, science and future promise. The mainstreaming of genomics into the UK NHS is a challenge for policymakers and educationalists which includes primary care. Genomic-wide association studies (GWAS) have been used to assess rare variants in common disease using a case-control, statistical methodology. Reproductive options using genomic information are expected to become increasingly available within the NHS. Predictive genomics that supports prevention can be applied either at a personal or population level or stratified screening for cancer in the future.