Population-scale genomics-Enabling precision public health

Adv Genet. 2019:103:119-161. doi: 10.1016/bs.adgen.2018.09.001. Epub 2018 Dec 7.


The current excitement for affordable genomics technologies and national precision medicine initiatives marks a turning point in worldwide healthcare practices. The last decade of global population sequencing efforts has defined the enormous extent of genetic variation in the human population resulting in insights into differential disease burden and response to therapy within and between populations. Population-scale pharmacogenomics helps to provide insights into the choice of optimal therapies and an opportunity to estimate, predict and minimize adverse events. Such an approach can potentially empower countries to formulate national selection and dosing policies for therapeutic agents thereby promoting public health with precision. We review the breadth and depth of worldwide population-scale sequencing efforts and its implications for the implementation of clinical pharmacogenetics toward making precision medicine a reality.

Keywords: Pharmacogenomics; Population genomics; Precision medicine; Whole exome sequencing; Whole genome sequencing.

Publication types

  • Review

MeSH terms

  • Exome Sequencing
  • Genetics, Population*
  • Genomics*
  • Global Health*
  • Humans
  • Pharmacogenetics
  • Precision Medicine / methods*
  • Whole Genome Sequencing