A few years ago, treating cancers with chemotherapy was in effect, a game of Russian roulette. The effects of toxicity to many of the drugs used could be as damaging as the cancer itself, and even cause death in some rare cases.
This is where pharmacogenomics has really started to make an impact on cancer patients treatment – the ability to screen patients before undergoing treatment with chemotherapy drugs such as Capacitabine allows clinicians to alter the treatment of patients at risk of toxicity, through identifying mutations in the DPYD gene (which encodes the enzyme which breaks down these drugs).
The challenge for genomic laboratories has been how to introduce this new service which requires a quick turnaround time (due to the implications on treatment of cancer patients). This has lead to the use of alternative technologies for interrogating the genome for mutations in the DPYD gene rather than the traditional PCR based methods (which are time consuming and labour intensive), such as LAMP testing (the same technology utilized in the COVID pandemic) and mass spectrometry.
The high throughput and speediness of these techniques has so far allowed laboratories to keep up with the demand for this new service, however as more pharmacogenomic testing is undertaken in medical genetics laboratories, more capacity will be needed to help meet the needs of patients.