What is the assessment of a Polygenic Risk Score (PRS) in screening for Prostate Cancer?

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Last updated: April 19, 2025View editorial policy

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From the Guidelines

The assessment of a polygenic risk score (PRS) in screening for prostate cancer is a valuable tool for identifying men at higher genetic risk, and its incorporation into screening protocols can enhance the detection of clinically significant prostate cancer. When considering the use of PRS in prostate cancer screening, it is essential to weigh the benefits and harms of screening, as outlined in the American College of Physicians (ACP) guidance statement 1. The ACP recommends that clinicians inform men between the ages of 50 and 69 about the limited potential benefits and substantial harms of screening for prostate cancer. Key points to consider when assessing the role of PRS in prostate cancer screening include:

  • The use of PRS can provide a more personalized approach to screening when used alongside PSA testing, family history assessment, and other clinical factors 1.
  • PRS is particularly valuable for men with borderline PSA values or those with family history concerns, as it can help identify men at higher genetic risk 1.
  • The implementation of PRS involves genetic testing, typically using a blood or saliva sample, with results interpreted by healthcare providers to guide screening frequency and intensity.
  • The clinical utility of PRS continues to improve as larger, more diverse genetic datasets become available, though access and insurance coverage for such testing remain variable across healthcare systems 1. It is crucial to note that PRS should complement rather than replace traditional screening methods, as genetic risk is just one component of overall prostate cancer risk. The American Cancer Society (ACS) recommends that men at higher risk, including African American men and men with a family history of prostate cancer, receive information about the uncertainties, risks, and potential benefits surrounding prostate cancer screening beginning at age 45 years 1. In conclusion, the assessment of a polygenic risk score in screening for prostate cancer is a promising tool that can enhance the detection of clinically significant prostate cancer, and its incorporation into screening protocols should be considered in the context of individualized risk assessment and personalized medicine.

From the Research

Assessment of Polygenic Risk Score in Prostate Cancer Screening

  • The use of polygenic risk scores (PRS) in screening for prostate cancer has shown promise in identifying individuals at higher risk of developing the disease 2, 3, 4.
  • A study published in The New England Journal of Medicine found that using a PRS to identify individuals at high risk of prostate cancer led to a higher detection rate of clinically significant disease compared to traditional screening methods 2.
  • The study found that among participants with a PRS in the 90th percentile or higher, 40% were diagnosed with prostate cancer, and 55.1% of those diagnosed had intermediate or higher risk disease according to the National Comprehensive Cancer Network (NCCN) criteria 2.
  • Another study published in the Journal of the National Cancer Institute found that a multiethnic PRS model was strongly associated with prostate cancer risk and could be used to identify men at high risk of developing the disease 4.
  • The study found that men in the top PRS decile had a significantly higher cumulative incidence of prostate cancer by age 85 compared to those at average risk 4.

Key Findings

  • The use of PRS in prostate cancer screening can improve the detection of clinically significant disease 2.
  • PRS can be used to identify men at high risk of developing prostate cancer, particularly those with a family history of the disease 5, 3.
  • The combination of PRS and rare genetic variants can provide a more comprehensive assessment of a man's lifetime risk of prostate cancer 6.
  • PRS can inform decisions on whether to undergo prostate-specific antigen screening or prostate biopsy 5, 3.

Study Implications

  • The use of PRS in prostate cancer screening has the potential to improve disease detection and treatment outcomes 2, 4.
  • Further studies are needed to evaluate the clinical utility of PRS in prostate cancer screening and to develop guidelines for their use in clinical practice 3, 4.
  • The consideration of both rare and common variants in conjunction can lead to more precise estimates of a man's lifetime risk of prostate cancer 6.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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