Pharmacogenomics

Pharmacogenomics is a discipline that studies the relationship between genetic variations and drug responses, with the goal of improving drug efficacy and safety. It investigates the genetic characteristics that affect individual differences in drug absorption, distribution, metabolism, and elimination, as well as the different responses to drugs caused by genetic variations in different patients. By doing so, it provides a platform for developing new drugs, guiding rational drug use, enhancing drug effectiveness, reducing adverse drug reactions, lowering the overall cost of drug development, and ultimately improving the quality of disease treatment.

Differences in drug-metabolizing enzymes and drug target genotype can affect the drug's in vivo concentration and the sensitivity of targeted tissues to the drug, resulting in individual differences in drug responsiveness (including therapeutic and adverse reactions).

Pharmacogenomics guides personalized medicine by:

Predicting the sensitivity (target) of drugs - predicting efficacy

Predicting the metabolic rate of drugs (enzyme, transporter) - predicting dosage

Predicting drug adverse reactions - avoiding drug ADRs.

Genetic polymorphism determines individual differences in drug response.

Single Nucleotide Polymorphism (SNP) refers to the change in DNA sequence caused by a single nucleotide - A, T, C, or G.

90% of human variation is caused by SNP, and differences in drug response between individuals should also be analyzed from the perspective of SNP.

The four main categories of drug-related genes studied in pharmacogenomics are: (1) enzymes involved in drug metabolism; (2) channels (transport proteins) related to drug transport; (3) receptors (target proteins) that bind to drugs; and (4) proteins related to signal transduction.

MassARRAY——Convenient, Fast, and Comprehensive platform for pharmacogenetic testing.

SpaceGen overall solution for human pharmacogenomic SNP detection, based on the MassARRAY instrument platform, has the following advantages:

FEATURES & ADVANTAGES

Ease of Use: Using the combination of PCR in vitro amplification and MassARRAY® mass spectrometry, highly multiplexed reactions can be achieved under universal cycling conditions, and the instrument can automatically complete desalting and spotting operations.

Fast Results：Simple and clear bioinformatics analysis and multiple sample testing greatly reduce the total running time and simplify the data processing process. With a small amount of manual operation time, results can be obtained within one day.

Comprehensive Testing: The simultaneous detection of 24 target genes and 40 loci provides comprehensive guidance for clinicians to select appropriate drugs and dosage for individualized treatment of specific patients.

References

1-2. Annual Report on National Adverse Drug Reaction Monitoring (2021). 

3. Progress in individualized drug therapy research. Chinese Medicine. 2014; 9(11).

Application of pharmacogenomics in clinical drug therapy. 1673-7806 (2019) 01-046-06.