Qualifying and quantifying the precision medicine rhetoric

Abstract

Background: With the rise of precision medicine efforts worldwide, our study objective was to describe and map the emerging precision medicine landscape. A Google search was conducted between June 19, 2017 to July 20, 2017 to examine how "precision medicine" and its analogous terminology were used to describe precision medicine efforts. Resulting web-pages were reviewed for geographic location, data type(s), program aim(s), sample size, duration, and the key search terms used and recorded in a database. Descriptive statistics were applied to quantify terminology used to describe specific precision medicine efforts. Qualitative data were analyzed for content and patterns.

Results: Of the 108 programs identified through our search, 84% collected only biospecimen(s) and, of those that collected at least two data types, 42% mentioned both Electronic Health Records (EHR) and biospecimen. Given the majority of efforts limited to biospecimen(s) use, genetic research seems to be prioritized in association with precision medicine. Roughly, 54% were found to collect two or more data types, which limits the output of information that may contribute to understanding of the interplay of genetic, lifestyle, and environmental factors. Over half were government-funded with roughly a third being industry-funded. Most initiatives were concentrated in the United States, Europe, and Asia.

Conclusions: To our knowledge, this is the first study to map and qualify the global precision medicine landscape. Our findings reveal that precision medicine efforts range from large model cohort studies involving multidimensional, longitudinal data to biorepositories with a collection of blood samples. We present a spectrum where past, present, and future PM-like efforts can fall based on their scope and potential impact. If precision medicine is based on genes, lifestyle and environmental factors, we recommend programs claiming to be precision medicine initiatives to incorporate multidimensional data that can inform a holistic approach to healthcare.

Keywords: Big Data; Evidence-based medicine; Genomic medicine; Individualized medicine; P4 medicine; Personalized medicine; Precision medicine; Stratified medicine; Translational medicine.

Fig. 1

An online, exploratory search of precision medicine efforts revealed multiple needs revolving around data that warrant diverse roles

Fig. 2

Global precision medicine efforts identified using search terms from Table I. The Google Map was generated through BatchGeo, an open source mapping tool

Fig. 3

Longitudinal global precision medicine efforts collecting at least two data sources involving ≥10,000 participants as of June through July 2017. Note: Some points overlap due to the lack of a unique location given besides country. The Google Map was generated through BatchGeo

Fig. 4

a The precision medicine spectrum was theorized based on PM-like efforts found using its rhetoric. A program, study, or consortium may have greater impact by being multidisciplinary and establishing connections across different stages of data acquisition and use. b The collection of data by a particular study can be further stratified according to dimensions of sample size, longitudinal design (and if positive, duration), and number of data types. The data presented e.g. general roles and specific program names, were extrapolated and pulled from our qualitative database (n = 108)

Fig. 5

Outline of our exploratory methods to: 1. gather and define the terminology used, analogous with precision medicine, 2. compile a database of precision medicine efforts, and 3. account for global precision medicine efforts *Results from the preliminary search fed into our baseline database of PM-like efforts