ASCO20: Genetic Profiling to Guide Targeted Screening for Prostate Cancer
Posted: Tuesday, June 23, 2020
Ros A. Eeles, PhD, of the Institute of Cancer Research (ICR), London, and colleagues tested a population of healthy men for numerous risk loci associated with prostate cancer development. The results of the BARCODE-1 pilot study, which were presented during the ASCO20 Virtual Scientific Program (Abstract 1505), suggested that population screening is a safe and feasible method of identifying those eligible for targeted screening.
“We were able to identify prostate cancers in over a third of the 18 apparently healthy men who we found to have the highest levels of inherited risk,” Dr. Eeles commented in an ICR press release. “Our hope is the larger BARCODE-1 pilot study will now be able to definitively show that population genetic screening for prostate cancer can cost-effectively improve diagnosis and ultimately save lives.”
Genotyping with a custom single nucleotide sequencing assay was performed on saliva samples obtained from 303 healthy men. After quality control, data from 285 patient samples were available for analyses. Using the weighted sums of 130 risk alleles, the investigators computed a polygenic risk score for each patient. A prostate MRI and biopsy were offered to men with scores above the 90th percentile. Follow-up data were provided for an average of 4.5 months.
The investigators reported a median polygenic risk score of 10.33. A total of 25 men in the top 10% of the genetic risk profile were eligible for targeted screening. Of the 20 men who underwent a prostate MRI, 9 had an abnormal result (45%). Low-risk prostate cancer was detected in 7 of the 18 men (38.8%) who underwent a prostate biopsy.
“The results of the BARCODE-1 study will be important in defining the role of genetic profiling in targeted prostate cancer population screening,” the investigators concluded.
Disclosure: For full disclosures of the study authors, visit coi.asco.org.