The advances we’ve seen in the discovery and use of genetic biomarkers in recent years have been remarkable. Look at the recent revolution in home DNA testing kits – now a burgeoning new industry expected to be worth £261m by 2022.
For the healthcare sector, the sky is the limit in terms of the potential this holds. Labs will soon offer direct-to-consumer testing for multi-analyte biomarker panels from a single drop of blood. Acquired in the home and sent through the post, this will enable personalised, precision medicine at a level that would have been unthinkable a few short years ago.
Yet genomic biomarkers are just one part of the picture. Other ‘omic’ biomarkers, such as proteomics, lipidomics and metabolomics, coupled with environmental and lifestyle factors, will contribute even more to differences in disease risk and drug response. Whether a person smokes, for example, has been proven to have a significant demonstrable impact on their response to certain treatments.
It’s here that the potential is truly staggering. Using a similar home-testing approach, these non-genetic biomarkers could be measured monthly from a drop of blood so that deviations from a baseline can be flagged. From there, it’s not too much of a stretch to run a massively-multiplexed omics profile and obtain a direct, tailored assessment on their current wellness or response to a drug treatment to more precisely determine the need or level of clinical intervention. Next-generation companion diagnostics is closer than we think.
A holistic approach
We’re not quite there yet, of course. While the technologies are certainly advanced enough, the industry doesn’t have the scale or the capability to carry out such large-scale testing. Indeed, while there has been a lot of investment into the discovery of non-genetic biomarkers in recent years, there has been limited clinical output, and the majority of novel biomarkers to date have been genetic in nature; how a patient’s genetic signatures can indicate their susceptibility to a disease, its possible severity, and what treatments may prove most effective.
But with genome sequencing reaching new levels of maturity, now is the time to recognize that genomic indicators alone will only drive the advent of precision medicine so far. If we are to deliver precision medicine that is truly targeted and predictive, we need to adopt a more holistic approach to the use of biomarkers.
Two areas in particular need to be the focus of more effort: proteomics; and metabolomics. Proteomics is vital as proteins can provide a comprehensive link between the genome, external factors and the phenotype – crucial in the study of many cancers and longer-onset diseases in which a multitude of factors influence susceptibility and best possible treatments. Metabolomics, meanwhile, gives us the most representative picture of what is going on in an organism in the here-and-now; the behavior of which often acts as a signifier of early stage onset of diseases that would have no genetic markers and produce no early changes in the proteome.
The use of genetic and non-genetic markers of disease risk, diagnosis, response to therapy and prognosis to improve patient stratification and drug targeting, has the potential to be truly transformative for patients. And not only do chances of improved patient outcomes increase, medicine failure rates will reduce, which provides added-value to health systems and payors. At the same time, patient experience will ultimately be improved as the historic trial and error approach to treating complex diseases such as systemic lupus erythematosus (SLE) could become a thing of the past, as we understand what works in different cohorts of patients, with interrelated omic and lifestyle factors.
The digital future
Advancing technology has a huge part to play in enabling the industry to embrace the potential that non-genetic biomarkers offer. The future lies in high-throughput technologies in the lab and combining this with artificial intelligence (AI) and machine learning to overlay regularly measured biomarker profiles with patient metadata. This could in turn drive the evolution of biology and medicine significantly and help to realise the promise of precision medicine, with biomarkers using omic data in combination with environmental and lifestyle factors to drive routine clinical practice.
By enabling medical scientists to stratify patients into clear, targeted groups categorised by their susceptibility to various diseases and likely responses to treatment, these biomarkers hold the key to ending one-size-fits-all treatment of disease. Understanding and embracing the potential of these non-genetic biomarkers will be vital to a new era of efficient, predictive and precise medical science and have a significant impact on clinical decision making – ensuring the ‘right drug’ is administered to the ‘right patient’ at the ‘right time’.
Aaron Hudson is vice president of global marketing and clinical diagnostics at SCIEX