Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease

Pharmacogenomics. 2014 Nov;15(14):1771-1790. doi: 10.2217/pgs.14.117.


The potential for personalized sequencing to individually optimize medical treatment in diseases such as cancer and for pharmacogenomic application is just beginning to be realized, and the utility of sequencing healthy individuals for managing health is also being explored. The data produced requires additional advancements in interpretation of variants of unknown significance to maximize clinical benefit. Nevertheless, personalized sequencing, only recently applied to clinical medicine, has already been broadly applied to the discovery and study of disease. It is poised to enable the earlier and more accurate diagnosis of disease risk and occurrence, guide prevention and individualized intervention as well as facilitate monitoring of healthy and treated patients, and play a role in the prevention and recurrence of future disease. This article documents the advancing capacity of personalized sequencing, reviews its impact on disease-oriented scientific discovery and anticipates its role in the future of medicine.

Keywords: cancer genomics; disease discovery; electronic medical record; genomic medicine; individualized therapy; next-generation sequencing; personalized medicine; pharmacogenetics; pharmacogenomics; precision medicine; prevention; whole-exome sequencing; whole-genome sequencing.