The Genetic Testing Gap Reported By Patients With Metastatic Prostate Cancer

Key Takeaways:

• In the 2025 In America survey, 41 percent of patients with metastatic prostate cancer did not know whether they had tested positive for an inherited mutation. Another 25 percent said they had never been tested.
• Germline testing is recommended for all men diagnosed with metastatic prostate cancer, and about 12 percent carry an inherited DNA-repair mutation.
• Patients may confuse germline testing with tumor-based tests. Naming the test and sharing results in writing helps ensure patients and their families receive them.

Germline testing is now standard care in metastatic prostate cancer. National Comprehensive Cancer Network (NCCN) guidelines recommend it for all patients diagnosed with metastatic disease. Results can inform treatment and clinical trial options, the management of other cancer risks, and the cancer risk of family members.¹

A result helps only if the patient knows it exists. Data from the 2025 Prostate Cancer In America survey suggest that many patients do not.

What patients report

Among 206 respondents with metastatic prostate cancer, 41.3 percent said they did not know whether they had tested positive for any of the listed inherited mutations. Another 24.8 percent said they had never been tested, and 31.1 percent reported testing negative. Only 2.4 percent reported a BRCA2 mutation, and 0.5 percent reported a BRCA1 mutation.²

The gap does not reflect a lack of interest. Most respondents (61.2 percent) agreed that they actively seek information about the latest prostate cancer treatments (top-2 box on a 1–7 Strongly Disagree to Strongly Agree scale). Nearly 1 in 5 (19.4 percent) named understanding biomarkers and genetic mutations as a topic they want to learn about. Others wanted help communicating with their healthcare providers (11.7 percent) or guidance on getting a second opinion (15.5 percent). Gaps in detail extend beyond testing: 12.6 percent said their main provider was an oncologist but were not sure what type.²

What the numbers may miss

The self-reported positive rate sits well below what germline studies find. In a multicenter study of 692 men with metastatic prostate cancer unselected for family history, 11.8 percent carried at least a single presumed pathogenic germline DNA-repair mutation. BRCA2 was identified in 5.3 percent and ATM in 1.6 percent. Mutation frequency did not differ by prostate cancer family history or age at diagnosis.³

The 2 figures are not directly comparable. The survey listed only a few genes and did not include ATM, PALB2, or CHEK2, and some respondents were never tested. Others may have been tested for genes not on the list or may have misread the question. Still, a 41 percent "do not know" rate suggests that, for many patients, either testing has not happened or the result has not reached them in a form they can act on or share.

Two kinds of genetic test

Patients' own words point to a second source of confusion. On the prostatecancer.net community, patients use "genetic testing" to describe tumor-based risk tests. One man with localized disease described "genetic testing that has indicated an intermediate level of risk." Another wrote that he "had an additional genetic testing done on the pathology as well that came back a Low Risk."⁴

Germline testing looks for inherited variants present in every cell, often from a blood sample. Somatic testing analyzes tumor tissue or circulating tumor DNA for acquired changes.⁵ Tumor-based tests also include tissue-based prognostic tests, such as multigene risk classifiers, which estimate risk in localized disease.⁶ These answer different questions from germline testing, but a patient who remembers a tumor test from diagnosis may believe he has already "had genetic testing."

Closing the loop

In practice, a few steps may help close the gap:

• Name the test in plain terms: a test for inherited genes versus a test on the tumor.
• Share results in writing, including negative results and variants of uncertain significance.
• Connect positive results to genetic counseling. NCCN strongly recommends post-test genetic counseling when a pathogenic variant is found and calls cascade testing of relatives critical.¹ Genetic counselors help family members who may carry the same mutation get tested.⁵
• Ask directly. A question such as "Do you know whether you have had testing for inherited genes?" can surface gaps that chart review alone may not.