Precision Medicine Tutorials

What is Precision Medicine?

A succinct definition of precision medicine and its relationship to personalised medicine.

Precision medicine refers to the adaptation and provision of medical healthcare based on the context of the patient’s genetic content. Thus, medical treatment is tailored to the unique genetic makeup of each patient. Each patient can then be classified into subpopulations (stratified groups) with a common susceptibility to a disease, a common mechanism for reaction or a common biological process whereby his or her genetics and other data modulate their response. Although the concept of precision medicine has been developed initially from the application of genetic data into medical praxis, there are many other data sources that may make a difference in the way patients are treated. Hence precision medicine has also become the process by which any data measurement from the organism can be incorporated into the categorisation of patients for more targeted treatments. Data sources other than purely genetic include transcriptomics, metabolomics and also other non-omics data sources such as electronic health records and family history. 

Another long-standing term, sometimes used interchangeably with precision medicine is ‘personalised medicine’. This concept resonates with Leroy Hood’s idea of P4 medicine [1]: ‘Predictive, Preventative, Personalised and Participatory’. Both personalised medicine and precision medicine use high throughput generation of ever bigger datasets applied to diagnosis, prevention and treatment of disease. Datasets that may be produced by the doctor at the hospital, through wearable devices connected to the patient’s smartphone and by remote labs providing high throughput molecular measurements. 

Precision medicine is thus not synonymous with whole genome sequencing (WGS) but rather applies genomics as a key technology to optimise patient health. WGS allows the physical mapping of the individual’s variation into the human genome reference, which can then be further contrasted with known genotype-phenotype associations for further processing and prediction of effects [2]. Even while WGS as a tool for health strategy is still in progress, researchers, clinicians, politicians and the public at large are realising the power of genomics to transform biomedical research, healthcare and lifestyle choices. This means a higher resolution medical picture in order to prescribe the right drug to the right patient, at the right time with the right dose.


[1] https://www.systemsbiology.org/research/p4-medicine/

[2] Lindor, Noralane M. et al. (2017) Whole-Genome Sequencing in Healthy People. Mayo Clinic Proceedings, Volume 92, Issue 1 , 159 – 172

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