Since the sequencing of the human genome more than 20 years ago, advancements in genomics technologies have enabled healthcare providers to move away from generalised ‘one size fits all’ practices and adopt more patient-specific interventions. This has given rise to the field of precision medicine, an approach where a patient’s genetic profile is used to inform disease treatment and prevention strategies. To date, this approach has been successfully applied across a range of healthcare fields, including oncology, pharmacogenomics and reproductive health.

Precision medicine has seen significant usage within the field of oncology, where companion diagnostic (CDx) tests are used to match patients with the most appropriate therapies. For example, patient tumour samples can be screened for specific genes or biomarkers to determine if they will respond to a particular drug. A recent article published in Translational Oncology by Jørgensen highlighted that the number of US Food and Drug Administration (FDA) approved CDx tests had risen to 44 by the end of last year, the majority of them linked to cancer therapeutics. Most of these approvals had occurred within the previous ten years. This trend is expected to continue as CDx assays are co-developed alongside targeted anti-cancer drugs.

Medical device companies are continuing to innovate within the precision medicine space, with recent developments made in gene sequencing and analysis applications. Earlier this month, Illumina, a leading provider of DNA sequencing and array-based solutions, announced its support for a national precision medicine study in Norway that aims to assess the efficacy of blood-based genetic profiling for guiding cancer therapy selection. A component of the study will examine how less-invasive blood samples compare with traditional tissue biopsies when used to profile tumours in cancer patients using Illumina’s DRAGEN Bio-IT platform. Last week, Roche announced the launch of its AVENIO Edge System, a platform used to automate and enhance sample preparation for next-generation sequencing techniques.

As new biomarkers and gene targets are identified through disease research, applications and demand for precision medicine technologies will continue to grow. With its unique data-driven methodology, the approach has great potential to increase treatment efficacy and lower patient risk in healthcare systems worldwide.

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