Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics

Genes (Basel). 2020 Nov 30;11(12):1443. doi: 10.3390/genes11121443.


One application of personalized medicine is the tailoring of medication to the individual, so that the medication will have the highest chance of success. In order to individualize medication, one must have a complete inventory of all current pharmaceutical compounds (a detailed formulary) combined with pharmacogenetic datasets, the genetic makeup of the patient, their (medical) family history and other health-related data. For healthcare professionals to make the best use of this information, it must be visualized in a way that makes the most medically relevant data accessible for their decision-making. Similarly, to enable bioinformatics analysis of these data, it must be prepared and provided through an interface for controlled computational analysis. Due to the high degree of personal information gathered for such initiatives, privacy-sensitive implementation choices and ethical standards are paramount. The Personal Genetic Locker project provides an approach to enable the use of personal genomic data in primary care. In this paper, we provide a description of the Personal Genetic Locker project and show its utility through a use case based on open standards, which is illustrated by the 4MedBox system.

Keywords: Personal Genetic Locker; ethics; genomics; personalized medicine; pharmacogenomics; primary care; research.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Computational Biology / methods*
  • Electronic Health Records
  • Genetic Testing / methods
  • Genomics / methods*
  • Humans
  • Pharmacogenetics / methods*
  • Precision Medicine / methods
  • Primary Health Care / methods*