In the era of precision medicine, a wide range of data points must be considered in the clinical management of patients. Many cancers, for example, are now stratified by genetic mutations. Diabetes consists of as many as five different sub-types. And in the fight against antimicrobial resistance, the kaleidoscope of factors determining the best treatment keeps turning.

The amount of data we use is growing constantly. In genomics, for example, we have 20,000 to 25,000 protein coding genes in the human genome, some 40,000 metabolites, up to one million recognisable unique proteins and tens of millions of transcriptome profiles [1]. With each advance, we better understand gene expression, mutations, epigenetic alterations and how they can inform diagnosis, prognosis and treatment of different conditions.

Earlier this year, two teams working in the United States [2] and France [3] added the microbiome as another factor that needs to be part of the equation when administering cancer therapies. The microbiome consists of 10,000 species, with more than eight million genes at the last count and trillions of individual bacteria. That’s an astronomical amount of data.

This extraordinary wealth of data is threatening to overwhelm practising physicians and their capacity to stay abreast of the latest developments in laboratory medicine.

So what will be the role of the laboratory of tomorrow?

To ensure that this big data will be able to benefit patients and the healthcare system, the laboratory will have to take on a new, enlarged role as both gatekeeper and educator. By educating physicians about new opportunities and offering post-assessment analysis and interpretation of the test data, they can help improve patient outcomes and reduce the per-episode cost of care.

Trained laboratory staff will have the opportunity to participate actively in multidisciplinary care teams that manage complex patient cases. In addition to being part of the care team, they can also educate the physician about which multi-analyte tests measure the right variables to deliver not only a fast, early and accurate diagnosis, but also insights on an individual patient’s treatment strategy.

In healthcare systems that are struggling to meet the growing needs of a rapidly ageing population, labs should focus on value-added services that reduce waste and save costs. In 2016, the United States alone spent approximately 16% of its national healthcare expenditure, or more than US$500bn, on non-optimised drugs [4]. By harnessing diagnostics to provide the right treatment at the right dose with the right pharmacogenomic profile to the right patient, laboratories can have substantial health and economic impact. 

In the near future, laboratories will become data processing hubs that add clinically relevant data to deliver better care to individual patients, and help inform hospitals, care networks and governments about population-level health by combining and analysing this data.

This trend, which is still in its infancy now, will become visible in the next two to four years, after which it will take off exponentially. Laboratories that prepare now for this new reality will be the ones that benefit.

[1] Transcriptome Fact Sheet,  https://www.genome.gov/about-genomics/fact-sheets/Transcriptome-Fact-Sheet

[2] Gopalakrishnan, V., et al. (2018) “Gut microbiome modulates response to anti-PD-1 immunotherapy in melanoma patients.” Science. 359(6371), pp.97-103.

[3] Routy, B., et al. (2018) “Gut microbiome influences efficacy of PD-1 based immunotherapy against epithelial tumours.” Science. 359(6371), pp.91-97.

[4] Watanabe, H, J., et al. (2018) “Cost of prescription drug-related morbidity and mortality.” The Annals of Pharmacotherapy. 52(9), pp.829-837.

This article is based on a presentation: Winning Strategies and New Business Opportunities in Diagnostics at LEADx Diagnostics Leadership Summit in Mumbai, India.