Genomics is a fast-paced and exciting field of medicine. This article summarises a range of genetic and genomic tests that GPs are likely to encounter in practice.

In particular, we look at how genomic tests are influencing reproductive health and paediatric assessments, as well as the phenomenon of patients purchasing genomic tests online. First, a clarification.

The terms ‘genetics’ and ‘genomics’ are often used interchangeably, but technically, ‘genetics’ refers to specific genes while ‘genomics’ refers to the entire human genome.

Therefore, a ‘genetic test’ is one that looks at a particular gene or genes, while a ‘genomic test’ is broader and usually covers either the exome (the coding regions of genes) or the genome (all genes).