Brian Helfand, MD, of the Northwestern Memorial Hospital in Chicago, and colleagues evaluated whether personalized prostate-specific antigen (PSA) screening using genetic variants prevented unnecessary biopsies.
“We recently completed a genome-wide association study and found four genetic variations (single nucleotide polymorphisms [SNPs]) associated with either increased or decreased PSA secretion,” Helfand said. “Individuals with all four genetic variations were more likely to produce higher amounts of PSA as compared to those who had none of the genetic variations.”
The investigators also aimed to genetically correct PSA levels in high and low PSA producers in an effort to decrease the number of men requiring biopsy.
“We found that by implementing genetic correction of a man’s PSA levels, we could possibly save between 180,000 to 220,000 men from undergoing an unnecessary biopsy in the United States, annually,” Helfand said. “Currently, without correction for the SNPs, approximately 15–20% of the general male population may undergo delayed or unnecessary biopsies and we can reduce that with this new genetic approach. These genetic efforts improve upon the performance of PSA testing and provide a novel way to personalize prostate cancer screening.”