DNA sequencing has progressed significantly. While it took 13 years to sequence the first human whole genome, the process can now be completed in a day, but analysis takes longer.⁷

Pharmacogenomic testing can be:¹

• genotypic – specifically looking for alleles in the genetic data of the genotype
• phenotypic – looking for traits expressed by genes, such as whether an enzyme is being produced, and seen in the phenotype.

Tests can be done with blood or saliva.

The National Genomic Test Directories outline the full range of genomic tests funded by the NHS in England. These set out tests which are available for rare and inherited diseases and for cancers, listing the available technologies and which patients are eligible to access a test.³

Applications of genomic medicine for primary care currently include testing for:⁷

• a BRCA1 gene variant which can indicate an 80 per cent lifetime risk of developing breast cancer
• familial adenomatous polyposis (FAP) – where polyps develop on the colon wall and which can indicate potentially a 100 per cent risk of developing bowel cancer
• SCLO1B1 gene variants to predict those at higher risk of developing myopathy with simvastatin.