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Summary: Does Genetic Testing for Prostate Cancer Work?
Genetic testing for prostate cancer identifies inherited mutations that increase risk and informs personalized treatment plans. While not infallible, it helps tailor screening and reduce overdiagnosis.
Main Points:
- Risk Assessment: Detects mutations in genes like BRCA1/BRCA2 and HOXB13 to determine prostate cancer risk.
- Personalized Medicine: Guides treatments like PARP inhibitors for patients with specific mutations.
- Screening Improvements: Reduces invasive procedures and improves diagnostic accuracy.
- Limitations: Cannot predict cancer development with certainty; not all mutations are tested.
Genetic testing for prostate cancer has emerged in recent years as a possible path to better understanding personal risk for potential prostate cancer and the aggressiveness of existing disease.
Through genetic tests, patients can learn about key personal risk factors like inherited gene mutations. If prostate cancer runs in an individual’s family, genetic testing can help to identify the presence or absence of specific genes that increase the risk of prostate cancer.
In turn, the results of genetic testing can help individuals make more informed choices about prostate cancer prevention, screening, and treatment.
Genetic testing for prostate cancer can also help individuals understand how likely their cancer is to spread beyond the prostate. These tests may offer more accurate additional insight on top of conventional methods of assessing risk, such as PSA testing and Gleason score.
Let’s take a closer look at genetic testing for prostate cancer, from the available options to how the information they provide can inform treatment and prevention strategies.
Overview of Genetic Testing for Prostate Cancer
What is Genetic Testing for Prostate Cancer?
Although the exact cause of prostate cancer is unclear, there is broad agreement about risk factors related to this disease. These factors include modifiable concerns, such as diet and other lifestyle issues. There are also non-modifiable concerns, such as family history of prostate cancer and inherited gene mutations.
Understanding personal risks related to prostate cancer is valuable because it can help patients and the medical professionals who treat them make more informed decisions about their health. This can help guide a personally tailored screening protocol for individuals who have a higher risk of prostate cancer than average, as well as help guide patients actively dealing with prostate cancer.
Genetic testing can help patients with inherited gene mutations and a family history of certain conditions better understand their personal level of risk. Testing in the right circumstances can reveal helpful and useful information that guides prevention and treatment efforts.
As the National Library of Medicine explains, genetic testing is not perfect and involves risks of its own. However, genetic counseling — discussions with specialized professionals about the pros and cons of testing — can help individuals decide if testing is right for them.
Genetic testing for prostate cancer can play a key role in helping certain individuals understand if they face increased risk, as the American Cancer Society (ACS) explains. That can make it easier to adjust modifiable risk factors, such as diet and activity levels.
Identifying increased risk can also encourage patients to take a more active approach to prostate cancer screening. Patients might choose to start regular screening at an earlier age after consulting with their physician.
Patients who find they have inherited mutations through genetic testing for prostate cancer can also inform family members of the results. That supports more informed decisions for relatives as well as the patients themselves.
Genetic testing for prostate cancer treatment, meanwhile, can help patients with prostate cancer find more targeted treatment options. For instance, the ACS points out that some targeted drugs are only effective in prostate cancer treatment if a patient’s cancer cells have specific mutations.
Available Genetic Tests for Prostate Cancer Risk and Existing Prostate Cancer
Available genetic tests for prostate cancer include:
BRCA1/BRCA2 Testing
Inherited mutations in the BRCA1 and BRCA2 genes, which normally help to suppress tumors, can increase risk for several cancers.
As Penn Medicine explains, men with BRCA1 and BRCA2 mutations face an increased risk of prostate cancer. The average lifetime risk for prostate cancer is 14%, but men with this mutation have a prostate cancer risk of 25-50%. Additionally, mutations in these genes can lead to more aggressive prostate cancer.
HOXB13, ATM, CHEK2, and Other Testing
Several other genes can increase the risk of prostate cancer, including but not limited to:
- HOXB13: Research published in the New England Journal of Medicine found a mutation in the HOXB13 gene, while not common, is associated with a significantly increased risk of familial prostate cancer.
- ATM: Research published in the journal European Urology Oncology identified mutations in the ATM gene as causing both increased prostate cancer risk and earlier onset of the disease.
- CHEK2: Certain mutations in the CHEK2 gene indicate a higher risk of prostate cancer, although no association with familial prostate cancer was identified, according to research from the International Journal of Clinical and Experimental Medicine.
Genetic testing to identify certain mutations in these genes, among others, can help patients better understand their risk of prostate cancer. Panel testing is an efficient way to test for several gene mutations related to a specific condition, such as prostate cancer, at a single time.
Effectiveness of Genetic Testing for Prostate Cancer
Genetic testing for prostate cancer is an accepted and useful tool for both understanding personal risk and providing more information in the context of treatment options. These tests reliably, although not perfectly in every instance, identify gene mutations associated with prostate cancer.
Additionally, genetic testing can be used to calibrate traditional screening methods for prostate cancer on a personalized basis and as a form of noninvasive screening. This leads to a reduction in overdiagnosis and subsequent invasive procedures, such as biopsies. Such testing can both reduce the harm caused by overdiagnosis and provide more accurate screening results.
In general, genetic testing for prostate cancer is frequently noninvasive or minimally invasive. A simple blood draw, or hair or mucosal cells taken from the body, are often all that’s needed to obtain a genetic sample, as the National Library of Medicine points out. However, some tests related to existing prostate cancer require a biopsy of cancerous tissue.
Genetic information from these samples is isolated and read by trained professionals. Through comparisons with the sequences of standard genes, it’s possible to identify mutations in specific genes.
For patients with increased risk levels due to genetic mutations, this information is especially valuable because prostate cancer does not normally show symptoms in its early stages, making screening all the more important. High quality prostate MRI is one such screening tool.
Limitations of Genetic Testing for Prostate Cancer
However, as mentioned previously, genetic testing for prostate cancer risk and treatment is not perfect.
It is possible to receive inaccurate results from established and proven methods of genetic testing for prostate cancer — as is the case with many other diagnostic procedures.
Additionally, testing may not include every gene mutation that predisposes individuals to develop prostate cancer. Testing, even panel testing for multiple genes, will not identify every single potential mutation related to prostate cancer.
It’s also important to note that genetic testing cannot determine if someone with a gene mutation will get prostate cancer. Testing can identify gene mutations associated with increased risk but cannot guarantee if a patient will develop prostate cancer, or when that could happen.
Genetic Testing for Prostate Cancer Treatment Decisions
The Role of Genetic Testing for Prostate Cancer in Personalized Medicine
For patients with prostate cancer, genetic testing can help guide treatment decisions. Some targeted therapies — treatments that are effective when gene mutations are present — can only be used effectively in combination with genetic testing that confirms the presence of those mutations.
One example is the use of PARP inhibitors, which target a protein used in cellular repair, for prostate cancer patients with BRCA gene mutations. Like healthy cells, cancer cells also use PARP to repair themselves.
As the MD Anderson Cancer Center explains, BRCA mutations cause negative outcomes for cellular repair, leading to cells relying more on PARP to repair themselves. By prescribing PARP inhibitors, physicians can prevent cancer cells in a patient from repairing themselves with PARP and cause those cells to die off.
Genetic testing for prostate cancer treatment can also help medical professionals better understand the aggressiveness of prostate cancer based on genetic profiles.
The Decipher test is a genetic test that examines 22 genes related to prostate cancer. As the National Cancer Institute explains, this test has been shown to more accurately determine the aggressiveness of prostate cancer — its likelihood to spread beyond the prostate — than conventional clinical markers like PSA test results and Gleason score.
Understanding aggressiveness is especially important for prostate cancer. Active treatment is crucial in situations where the cancer has a high chance of spreading in the body.
However, many instances of prostate cancer develop and spread very slowly or don’t do so at all. In these cases, the need for active treatment, and the side effects that potentially come with it, can be significantly reduced or even eliminated.
With more accurate diagnosis through genetic testing, like Decipher, in addition to PSA, high quality prostate MRI, and Gleason scores from accurately targeted biopsies, physicians can make more informed treatment decisions along with their patients.
Prostate Cancer Treatment Options
Prostate Laser Center is dedicated to providing minimally invasive, MRI-guided biopsy and treatment options for prostate cancer. Learn more about our approach to treating prostate cancer and see if you qualify as a patient: Request a consultation today.
NOTE: The information provided on this website is general medical information and does not establish a physician-patient relationship. Please discuss your particular situation with a qualified medical professional.
