Significance of Pharmacogenomics in Precision Medicine

Abstract

Precision medicine-a term widely used in modern medicine-emphasizes the goal to overcome still existing limitations of therapeutic interventions by tailoring medical treatments to individual patient characteristics. Pharmacogenetics was one of the first scientific approaches taking molecular biomarkers into consideration of diagnostics and therapeutic decisions. This issue of Clinical Pharmacology & Therapeutics on the significance of pharmacogenomics inprecision medicine discusses the ongoing challenges on different levels. Access and usage of clinical biobanks, gain of specific information of medication from electronic health records, and tools to combine clinical and molecular information in order to develop advanced clinical decision support are subjects of numerous research initiatives. Implementation in clinical routine, however, remains the subject of evaluation of clinical- and cost-effectiveness, so far.

Implementation and obstacles of pharmacogenetics in clinical practice: An international survey

“…The field of pharmacogenetics (PGx) was born in the 1960s and ever since many genes and molecular signatures have been shown to play a role in altering drug response . With the proven benefits of a personalized approach to medicine, it is crucial that all institutions worldwide start adopting such an approach in day‐to‐day healthcare delivery . As naturally expected, discrepancies have been noted, with some institutions leading the way in this field and some falling behind.…”

“…Despite these efforts, PGx clinical implementation may still be facing different challenges in different parts of the world . In addition, the majority of the documented efforts are concentrated in the USA and Europe, while not much information is available from other parts of the world, with few exceptions .…”

“…5 Since then, there have been major initiatives to push PGx forward especially relating to developing clinical guidelines that are accessible and understandable by clinicians, and integration of PGx clinical decision support (CDS) into the electronic medical records (EMRs). 3,6 For instance, the Clinical Pharmacogenetics Implementation Consortium (CPIC) of the Pharmacogenomics Knowledgebase (PharmGKB) and the Dutch Pharmacogenetics Working Group have already contributed to guidelines and clinical annotation levels of evidence covering 100 gene-drug interactions, translating known genetic laboratory test results into concrete clinical decision-making regarding drug prescribing. [7][8][9][10][11] In addition, in 2015, the EU funded a large PGx implementation study that takes into consideration the large diversity of healthcare systems and languages of citizens across Europe.…”

“…12 Despite these efforts, PGx clinical implementation may still be facing different challenges in different parts of the world. 3,[13][14][15][16] In addition, the majority of the documented efforts are concentrated in the USA and Europe, 12,15,17 while not much information is available from other parts of the world, with few exceptions. 18,19 Therefore, the aim of this study was to administer a modified version of the 2010 survey, 5 in an electronic format and on an international scale.…”

Pharmacogenetics: Chasing Perfection

“…Themed issues of Clinical Pharmacology and Therapeutics on PGx and precision medicine have been discussing progress and challenges on a regular basis . As new data and knowledge are produced at ever‐increasing speeds, translation of research to the bedside, however, is still in its infancy and faces many hurdles.…”