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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Personalized pharmacogenomics profiling using whole-genome sequencing.

Clint Mizzi¹, Brock Peters, Christina Mitropoulou

¹Laboratory of Molecular Genetics, Department of Physiology & Biochemistry, University of Malta, Msida, Malta.

Pharmacogenomics

|August 22, 2014

Summary

Whole-genome sequencing provides a comprehensive pharmacogenomic profile, identifying novel variants missed by standard genetic screening. This approach is crucial for advancing personalized medicine and optimizing drug efficacy and safety.

Keywords:

drug metabolism gene variants personalized pharmacogenomics profile pharmacogenomics whole-genome sequencing

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Area of Science:

Genomics
Pharmacogenomics
Personalized Medicine

Background:

Pharmacogenomics aims to personalize drug therapy by considering genetic variations.
Current genetic screening assays are limited to known pharmacogenomic biomarkers.
These assays cannot identify novel or uncharacterized pharmacogenomic markers.

Purpose of the Study:

To assess the utility of whole-genome sequencing (WGS) for comprehensive pharmacogenomic profiling.
To identify novel pharmacogenomic variants beyond those detected by conventional screening.
To evaluate the potential of WGS in advancing personalized medicine.

Main Methods:

Whole-genome sequencing of 482 unrelated individuals from diverse ethnic backgrounds.
Bioinformatic analysis to identify pharmacogene variants.
In silico analysis to predict the functional impact of novel variants.
Family-based WGS to investigate drug response variability.

Main Results:

Identified 408,964 variants across 231 pharmacogenes.
Discovered 16,487 novel variants, with 1012 potentially impacting protein function.
Observed significant genetic variation relevant to pharmacogenomics in the study cohort.
Demonstrated WGS capability in identifying variants linked to specific drug responses.

Conclusions:

Whole-genome sequencing offers a more comprehensive approach to pharmacogenomic profiling than conventional methods.
WGS is essential for identifying novel pharmacogenomic markers that influence drug response.
Decreasing WGS costs will accelerate the implementation of personalized medicine.