Personalising PSA test using genetic tests could improve prostate
25 April 2013
Testing for genetic variants that can increase serum prostate
specific antigen (PSA) concentrations could avoid unnecessary
biopsies for some men and eliminate false complacency for others.
A study published in The Journal of Urology found that correcting
individual PSA levels for these genetic variants led to an 18.3%
reduction in the number of men who initially had a measured serum
PSA above the biopsy criteria, but whose adjusted PSA fell below the
The latter group would have likely undergone what would have been
an unnecessary biopsy. Conversely, genetic correction led to PSA
levels moving from below threshold to above threshold for 3.4% of
the men, thus sending out an alert for further investigation.
“If our results are validated, adjustment for the four PSA single
nucleotide polymorphisms (SNPs) could potentially prevent up to 15%
to 20% of prostate biopsies. Since it has been estimated that more
than 1 million biopsies are performed in the United States annually,
this could translate into 150,000 to 200,000 potentially unnecessary
biopsies every year,” says William J. Catalona, MD, professor of
urology at the Feinberg School of Medicine of Northwestern
University. In addition to cost savings, fewer biopsies mean fewer
adverse outcomes, such as infection, sepsis, and hospitalization.
For 98% of the men, genetic adjustment of PSA levels did not
change outcome. However, genetic correction was important for the 17
men who were reclassified as no longer meeting biopsy criteria of
PSA 2.5 ng/ml or greater and the three whose condition was up
classified. The results suggest that traditional single cutoff PSA
screening levels of 2.5 ng/ml or greater or 4.0 ng/ml or greater
should be personalized to reflect an individual’s genetic make-up.
“If confirmed, this approach could potentially be used to tailor
PSA screening, possibly reducing unnecessary biopsies and avoiding
delay in performing necessary biopsies,” concludes Dr. Catalona and
Helfand BT, et al. Personalized prostate specific
antigen testing using genetic variants may reduce unnecessary
prostate biopsies.DOI: http://dx.doi.org/10.1016/j.juro.2012.12.023.
The Journal of Urology, Volume 189, Issue 5 (May 2013) published by