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Next-generation sequencing in pharmacogenomics - fit for clinical decision support?

Yitian ZhouVolker Martin Lauschke
Published in: Expert review of clinical pharmacology (2024)
While sequencing-based pharmacogenomics has provided important insights into genetic variations underlying the safety and efficacy of a multitude pharmacological treatments, important hurdles for the clinical implementation of pharmacogenomic sequencing remain. We identify gaps in the interpretation of pharmacogenetic variants, technical challenges pertaining to complex loci and variant phasing, as well as unclear cost-effectiveness and incomplete reimbursement. It is critical to address these challenges in order to realize the promising prospects of pharmacogenomic sequencing.
Keyphrases
  • clinical decision support
  • electronic health record
  • single cell
  • copy number
  • genome wide
  • healthcare
  • primary care
  • dna methylation
  • gene expression
  • genome wide association
  • circulating tumor
  • circulating tumor cells