Prostate Cancer Genetic Risk Assessment: It Actually Takes Three to Tango with Brian T. Helfand MD, PhD

  • The results of many genome wide association studies (GWAS) have revealed that single nucleotide polymorphisms (SNPs) can explain a large portion of the heritability of many complex disease processes. The cumulative effects of these SNPs can be evaluated using a polygenic risk score (PRS).  There are many different ways to calculate a PRS.  However, the genetic risk score (GRS) is a type of PRS that is very easy for clinicians to interpret.  This talk will review differences between GRS and other PRS calculations.  In addition, it will emphasize the importance of calibration with GRS. We will discuss how GRS can be used to personalize a patient's disease risk.  Finally, we will discuss how PRS is required to fully assess a patient's disease risk.  Prostate cancer will be used as an example of how PRS contributes to family history and rare pathogenic mutation information. 

Division Chief of Urology, NorthShore University HealthSystem

Brian Helfand, MD, PhD, is a board-certified urologist and Director of the Prostate Cancer Program at the John and Carol Walter Center for Urological Health at NorthShore University HealthSystem.  Dr. Helfand is also Director of the Urologic Division in the Personalized Program for Cancer Care at NorthShore, and participates in many research projects including clinical trials assessing the genetic basis for prostate cancer and aggressive forms of the disease. Dr. Helfand is also a member of the International Consortium for Prostate Cancer Genetics (ICPCG), a principal investigator of the Prostate Cancer Specialized Programs of Research Exellence (SPORE) and member of the American Urological Association.

Sr. Clinical Affairs Research Specialist, Ambry Genetics

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years at Boston Children’s Hospital developing the institutional infrastructure for gene discovery, enhancing research collaborations, and evaluating the utility of genomic sequencing in newborns. In 2016, Meghan joined Ambry as a reporting genetic counselor on the clinical genomics team. She maintains her research connections to the Boston community by serving as a voting member of the Massachusetts General Hospital IRB and as a course coordinator for research seminar series at Boston University.

  • Wed, March 18, 2020
  • 10:00am PDT
  • Duration: 1 hour
  • C.E.U.
    1 Category 1 Contact Hour
  • P.A.C.E. 1 unit

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