Genetic screening – the final frontier for precision medicine?

Genetic screening has been at the forefront of the move towards precision medicine since it was first conceptualised. As the technology for decoding our DNA has developed over the past couple of decades, the speed of the technology has increased, and the cost has dropped, both of which see its value grow exponentially.

It’s still the case, however, that precision medicine has still not taken root in the healthcare industry, according to a recent article in business magazine Forbes. Healthcare provides, for example, still use traditional systems for tracking medical conditions, for classifying disease and for predicting outcomes or risks. Many treatment plans still follow generalises, one-size-fits-all approaches to diagnosis and treatment.

The utility of precision medicine approaches holds the promise of more accurate diagnosis, tailored, individualised treatments, and more effective outcomes (with reduced side effects) – all can be derived from analysis of a patient’s genetic makeup. Highlighting the potential, it’s estimated that there are currently around 2000 condition that have a genetic cause, with a potential market of US$13 billion in 2019 which is expected to triple by 2026.

The value of personalised testing can only be truly realised once clinicians are armed with their patients’ genetic data, combined with their clinical data. Obtaining this information might seem at first glance to be the stuff of science fiction, but this (type of) information can essentially be ordered today from the comfort of your own home. The popularity of the broad range of home ancestry DNA analysis kits illustrates this point. Although arguably not representing the same type of analysis, it is clearly possible to take a test at home with a simple swab to then have a genetic analysis of your DNA performed in a remote lab, with results available online and personalised to your particular background. It’s not a huge mental leap to see this technology extended to screen for biomarkers of disease.

By allowing patients to retain a degree of ownership over their genetic information – and perhaps their treatment options – might see a positive return in terms of patient engagement with precision medicine, helping physicians to make even more personalised data than that which can be realised through raw data alone.

The data is key, though, and screening is the key to obtaining that data.