Genomic testing in primary care

In this rapidly expanding field, the assessment of polygenic risk scores and pharmacogenomics are two areas that show promise for boosting provision of personalised medicine in primary care

Genomic testing describes the assessment of genetic information across multiple genes, all of which, together or separately, can provide information about an individual’s health.

Genomic testing may be useful in both diagnostic and predictive settings.

The gradual adoption of genomic testing in clinical practice contrasts with the growing significance and popularity of direct-to-consumer genomic testing among the general population. This highlights the imperative to boost genetic literacy within primary care.1

This is particularly important as patients prefer the active involvement of their GPs in genomic testing.2-6