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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Using germline genotype in cancer pharmacogenetic studies
Sarah R McWhinney1, Howard L McLeod
1Lineberger Comprehensive Cancer Center, University of North Carolna, Chapel Hill, Campus Box 7360, Kerr Hall, Chapel Hill, NC 27599-7360, USA.
Pharmacogenomics
|August 5, 2009
Summary
Germline DNA is valuable for pharmacogenetics, even in diseases like cancer. Studies show high concordance between germline and somatic DNA, supporting its use for personalized medicine and avoiding adverse drug events.
Area of Science:
- Pharmacogenetics
- Genomic Medicine
- Clinical Pharmacology
Background:
- Pharmacogenetics enhances therapeutic benefits and reduces adverse drug events.
- Most pharmacogenetic studies utilize germline DNA, readily available from clinical trials.
- Concerns exist regarding germline DNA's adequacy for diseases like cancer, where somatic mutations are crucial.
Purpose of the Study:
- To evaluate the literature comparing pharmacogenetic variants in germline versus matched somatic DNA.
- To assess the concordance and utility of germline DNA for pharmacogenetic analyses.
Main Methods:
- Literature review and analysis of studies comparing germline and somatic DNA pharmacogenetic variants.
- Evaluation of concordance rates for pharmacogenetic genes.
Main Results:
- High concordance observed between germline and somatic DNA for pharmacogenetic variants.
- Germline DNA is a valuable and achievable resource for pharmacogenetic studies.
- Somatic variants offer unique clinical information but do not negate germline utility.
Conclusions:
- Germline DNA is a viable and valuable source for pharmacogenetic studies, including in complex diseases.
- Pharmacogenetic analysis using germline DNA supports the implementation of individualized therapy.
- The concordance between germline and somatic DNA validates the use of germline samples for broad pharmacogenetic applications.
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