World Cancer Day: The importance of germline genetic testing in prostate cancer

By Sarah Nielsen, MS, LCGC

As a healthcare provider, you already know how prevalent and burdensome prostate cancer is on patients and their families. Although the cause of this common, deadly cancer still remains unclear in many men and its etiology continues to be explored. It is now recognized as more than just an inevitable disease of aging. 

Research has shown that at least 1 in 6 men with prostate cancer (regardless of stage of disease) harbor inherited genetic variants that may have significant impact both for the patient and his (male and female) family members.

Knowing patients’ risk can aid in: 

  • tailoring medical and surgical treatment options.

  • designing surveillance approaches for secondary cancers.

  • identifying family members at risk. 

Recent data show that of positive germline results:

8.8% occur in genes with FDA-approved therapy for prostate cancer (PDL-1 inhibitors).         63% occur in genes implying eligibility for open clinical trials for therapeutic agents for prostate cancer or advanced solid tumors.         81% occur in genes with consensus management guidelines for surveillance and risk reduction for prostate and other cancers.


Removing barriers 

Genetic testing offers tangible benefits to patients, but it is often underutilized due to cost and accessibility barriers. Invitae is addressing these barriers with the Detect Hereditary Prostate Cancer program, which offers no-charge, sponsored genetic testing and genetic counseling to eligible patients.

This program helps bridge the gap between diagnosis and treatment by giving clinicians, patients and biopharma partners access to de-identified genetic information. By expanding access to aggregated genetic information, we can better understand disease and provide better treatment. 

We believe that by removing known barriers to testing, we will uncover a large, diverse cohort of prostate cancer patients that are genetically predisposed to cancer. These patients may benefit from precision medicine in the form of targeted treatment options, applicable clinical trials and tailored management. 

What about all my other patients?

For your unaffected patients, how can you determine if your patients have an inherited risk for prostate cancer? Here are some clues:

  • A family history of prostate cancer (including brothers, father, grandfathers or uncles), especially those with high-grade, advanced or metastatic disease 

  • A family history of breast, ovarian or pancreatic cancer

  • Ashkenazi Jewish ancestry

  • African ancestry

  • Patient or family members have certain genetic risk factors (e.g., BRCA1, BRCA2, ATM, CHEK2)

Invitae makes it easy

All of Invitae’s resources will be available to these patients, including post-test genetic counseling, family variant testing, re-requisition and clinical consultation. We also hope that by simplifying the genetic testing process, we will facilitate cascade testing of family members who may be at increased cancer risk as well. 

It is only with your help that we can accomplish our mission of advancing the field of prostate cancer genetics and improving care for all patients. 

More information—and instructions on how to order—is available on the Detect Hereditary Prostate Cancer program webpage

We look forward to working with you!


1. Nicolosi P, Ledet E, Yang S, et al. JAMA Oncol. 2019;5(4):523-8.