METM22 presentation

Big data, precision medicine, omes and omics: the emerging terminology

Kate Mc Intyre, Groningen, Netherlands

Major advances in genetics, technology and computing have flooded medical research with new terminology, from big data to precision/personalized/molecular/systems/translational medicine to multi-omics and -omes. But do these terms have stable definitions? Or are they aspirational language used to spice up a conference abstract or grant proposal?

This talk follows up on Katarzyna Szymańska’s METM 2021 presentation by exploring how these terms are used in my workplace, the genetics department of a Dutch university hospital, and our answers to questions raised by Katarzyna’s talk (How “personalized” is this medicine? What makes data “big”?). Many terms reflect an ongoing revolution in our ability to measure, process and use genetic data, which led to a reconceptualization of personalized/precision medicine, and I now see increasing use of terms like patient stratification, molecular diagnosis, polygenic- or personal-risk scores and pharmacogenetics in real applications of precision medicine.

Modern genetic sequencing technologies also make it possible to measure microbiomes as a genetic whole, with the composite genetic measurement briefly overtaking the earlier definition as a community of microbes. While the concept of an -ome as a biological system is not new, microbiome terminology has arisen in parallel with similar terms in other contexts to produce a multitude of -omes (interconnected biological components) and -omics (the study of these components jointly).

New terminology also reflects the rapid changes in our capacity to computationally process huge amounts of health data, so I will also explore terms like big data, bioinformatics, data science, data federation, and the FAIR principles of data management. Big data analyses have also reintroduced the idea of hypothesis-free analysis as a state of observational openness that precedes hypothesis formation.

My take-home message is that we can help clients enrich their texts by showing them the concrete ways that their work meets the goals defined in terms like precision medicine.

Related background reading
Collins, FS and Varmus, H. A New initiative on precision medicine. New England Journal of Medicine 2015; 372:793-795. DOI: 10.1056/NEJMp1500523
Phillips, CJ. Precision medicine and its imprecise history. Harvard Data Science Review 2020 2(1). DOI: 10.1162/99608f92.3e85b56a

About the presenter

Kate Mc Intyre is the in-house scientific editor of the Genetics Department at the University Medical Center Groningen. Originally American, she has lived in the Netherlands for 20 years. Kate came into scientific editing as a former marine geologist and is also the author of a children’s book, De knikkelares.