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13:19
Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
Published on: November 2, 2013
Personalized prostate specific antigen testing using genetic variants may reduce unnecessary prostate biopsies
Brian T Helfand1, Stacy Loeb, Qiaoyan Hu
1Division of Urology, Northshore University Healthcare System, Evanston, Illinois, USA.
The Journal of Urology
|December 19, 2012
Summary
Genetic correction of prostate specific antigen (PSA) levels using four genetic variants can reduce unnecessary prostate biopsies. This approach may improve diagnostic accuracy and prevent a significant number of procedures in Caucasian men.
Area of Science:
- Genetics
- Oncology
- Biomarkers
Background:
- Genetic variants influence serum prostate specific antigen (PSA) concentrations.
- This influence may introduce diagnostic bias in prostate cancer screening.
- Personalized PSA cutoffs could enhance biopsy recommendations.
Purpose of the Study:
- To evaluate the impact of genetic correction on PSA levels.
- To determine the number of men meeting biopsy criteria after genetic PSA adjustment.
- To assess the potential reduction in prostate biopsies.
Main Methods:
- Genotyping of 4 single nucleotide polymorphisms (SNPs) in 964 healthy Caucasian men.
- Calculation of a combined genetic risk score.
- Genetic correction of PSA by dividing measured PSA by the genetic risk score.
- Comparison of biopsy threshold adherence (≥2.5 ng/ml or ≥4.0 ng/ml) pre- and post-correction.
Main Results:
- Genetic correction significantly decreased the percentage of men meeting biopsy thresholds.
- A 15% or 20% relative reduction in biopsies was observed at PSA thresholds of 2.5 ng/ml or 4.0 ng/ml, respectively.
- An 18%–22% reduction in potentially unnecessary biopsies and a 3% decrease in delayed diagnoses were estimated.
Conclusions:
- Four specific SNPs can adjust measured PSA concentrations.
- Genetic correction holds potential to reduce unnecessary prostate biopsies in Caucasian men.
- This method may refine prostate cancer screening and diagnostic pathways.
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