Patients Reports May Aid Prostate Cancer Treatment Choice
But the genetic tests are pricey, around $3,000 or $4,000, and not necessarily covered by insurance. More problematic, they do not give a yes/no answer to whether cancer cells are harmless. Instead, they indicate whether a man has a very low, low, intermediate, or high risk of harboring an aggressive, metastatic cancer.
The problem is, genetic tests dont necessarily shift the risk much, said Mayos Karnes. A man might have a 30 percent risk of an aggressive cancer, before a genetic test, and the test might shift that to 35 percent. What you want is a test that tells you the risk is more like 0 percent or 100 percent.
Even short of perfection, however, genetic tests are offering men reassurance that they can choose active surveillance rather than treatment. Duane Foulkes, 70, recently sold the manufacturing business he founded near Madison, Wis., when, in late 2015, his PSA test came back over 5. It rose to above 9 three months later, and he had a biopsy at Mayo. His Gleason score of 6 concerned me at first, Foulkes said.
But a genetic test indicated that he had at most a slow-growing, non-aggressive type of cancer, Foulkes said, giving him confidence to choose active surveillance.
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My Family Member Has Prostate Cancer Should I Get Germline Testing
If one of your blood relatives has cancer and has tested positive for certain genetic traits, their doctor or genetic counselor may offer germline testing to other members of the family.
This is known as cascade testing. It can help you and other family members learn if you have an increased risk for developing certain types of cancer, including prostate cancer.
If you test positive for certain genetic traits that raise your risk for cancer, your doctor or genetic counselor may:
- advise you to begin cancer screenings at a younger age than usual
- encourage you to get more frequent cancer screenings than usual
- recommend lifestyle changes or other strategies to reduce your risk for developing cancer
Your doctor will likely advise you to get early cancer screenings if you have a close relative with prostate cancer, even if you havent gone through germline testing.
Prostate cancer screening may be conducted with a simple blood test, known as the prostate-specific antigen , as well as a digital rectal examination .
If you test positive for elevated levels of PSA, or you have abnormal exam results, your doctor may order a prostate biopsy or additional tests to check for cancer.
Some genes linked to prostate cancer are also linked to other cancers, such as breast and ovarian cancer. Talk to your doctor to learn which cancer screenings you should get and when you should get them.
What Is Genomic Testing In Prostate Cancer
Genomic testing is done on cancerous tissue taken from the prostate in order to provide information about how your prostate cancer might behave. It can be performed on both biopsy tissue and on tissue from an entire prostate following a prostatectomy. Genomic testing is useful for helping prostate cancer patients and their doctors decide on a treatment, so these tests are most helpful for those who are newly diagnosed with prostate cancer that is still confined to the prostate. However, men who have had surgery and want to understand their risk of recurrence may also find this information helpful. By looking at the genetic makeup of the prostate cancer, genomic tests may help predict whether a persons prostate cancer will grow slowly or aggressively.
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Tests Prior To Treatment
Two biopsy based tests of prostate cancer tissue have received clinical study and are commercially available: the OncotypeDXGPS and Prolaris assays. The Oncotype DX® test was developed by Genomic Health, Inc that analyzes tissue samples obtained at the time of diagnosis from the portion of a prostate biopsy containing cancer. The Oncotype® test was developed by studying 727 genes believed to be involved in the development of prostate cancer. These were ultimately refined to a signature of 17 genes that are associated with a likelihood of having high grade and/or high stage if the prostate is removed and examined. In studies performed at UCSF, this 17-gene signature was a reliable and helpful tool in assessing candidates for treatment or active surveillance without re-sampling or removing the entire prostate.
This tissue-based test requires no additional biopsy because the specimen is taken from an individuals existing biopsy, and can generate a result from as little as 1mm of cancerous tissue. OncotypeDX® yields a Genomic Prostate Score , on a scale of 1-100, where higher scores are more suggestive of adverse pathology. It is important to remember that a GPS score is a measurement of gene expression within prostate tumors and must be interpreted within the context of other relevant clinical factors.
Why Genetic Testing For Prostate Cancer
Studies have revealed several inheritable genes which are associated with prostate cancer. Getting whole-genome sequencing through a company like Nebula Genomics can help you discover how high your risk of developing prostate cancer is. Some of the gene mutations associated with prostate cancer are on the MLPH, BRCA1 and BRCA2, CHEK2, and TP53 genes.
About 10% of men are at risk of being diagnosed with prostate cancer. However, men with family members who have prostate cancer are 20% likely to develop it. If the family member is in the immediate family, such as a father or a brother, the risk increases to about 50%. Genes that are suspected to be linked with prostate cancer have a 50% chance of being passed on to the next generation.
Genetic testing for prostate cancer has other benefits aside from early diagnosis. After genome sequencing, if a person is found to carry gene variants that are associated with prostate cancer, it can help other family members decide to get tested too. Genetic counselors can help review the results of genetic testing once performed.
Genetic testing helps you determine if your prostate cancer is hereditary or not and then helps the specialists make more informed decisions on treatment.
Genetic research is also helping with the nearly 600 clinical trials designed to help create better treatments.
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Biomarker Testing And Precision Medicine
Biomarker testing and precision medicine are somewhat newer terms in the cancer space. Biomarker testing looks for genes, proteins, and tumor markers that tell us more about your specific cancer. Biomarkers can help doctors diagnose cancer and monitor cancer, and can also affect how some treatments will work for you.
Prostate specific antigen is the most widely used prostate cancer biomarker but new and emerging blood, urine, and tissue biomarkers are also now available. The prostate health index, or PHI, as well as the 4KScore, are newer biomarker tests that help in diagnosing prostate cancer and identifying more aggressive disease, which also may reduce the number of prostate biopsies performed in men with low PSA levels.
Biomarker testing, also called comprehensive genomic profiling , tumor testing, molecular profiling, tumor subtyping, or somatic testing, uses a single test to examine a persons genes. The test looks for mutations in genes that are relevant in cancer and that may drive cancer growth. Some of these biomarkers tell your doctors how aggressive your prostate cancer might be. Biomarker testing may help you and your doctor better understand your particular cancer and choose the best treatment option for you.
Biomarker testing is not the same as genetic testing. Genetic testing tells you which genes have been passed on to you by your parents, or inherited.
Three Things To Know About Genetic Testing And Prostate Cancer:
1. Results affect treatment decisions for patients with metastatic prostate cancer.
2. Genetic testing can inform future cancer screening needs of patients with non-metastatic prostate cancer.
3. The information is important to patientsthey want to know how it may affect their family members now and in the future.
MMR=mismatch repair
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Delivery Care Models For Germline Testing
NCCN guidelines recommend germline testing for a large subset of patients with prostate cancer, but the best care model to offer education and testing is unclear. The traditional clinical care delivery model for cancer genetics includes 2 in-person visits with a genetic counselor, the first for pretest risk assessment and education and the second to discuss the results. This is the most established pathway and, historically, has been utilized the most. However, broadening recommendations for germline testing create great demand that cannot be currently met in a timely fashion by the approximately 4000 genetic counselors in the United States.11,12 Therefore, oncologists and other providers are increasingly performing pretest counseling, ordering genetic testing, and providing posttest counseling for their patients, or following hybrid models .13
Protecting Privacy Who Should Know The Result
Of course theres no question that as with all medical information, genetic data needs to be kept securely, and there need to be rules in place to govern who can have access to such sensitive information. But the stakes could be really high with genetic information. If insurance companies and banks were allowed to use your genetic status in their assessments, there could be implications for health, travel and life insurance, as well as for your credit rating or ability to get a mortgage.
There could be implications for employment too. As part of a recent YouGov survey for the Astellas Innovation Debate, one in five bosses admitted that if an employee revealed his or her greater genetic risk of serious illness, theyd also be at higher risk of redundancy and be deemed less eligible for promotion. So its just as well that at the moment, European legislation denies employers access to their employees genetic data, and prevents insurance companies from demanding it.
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Going Home With A Catheter
You will be discharged from the hospital with a catheter in place to drain urine from your bladder into a bag. The doctor will remove this in the office in five to 14 days. Be sure to clean the catheter where it exits your penis twice a day with soap and water and to empty the bag frequently. The bag should always be positioned lower than your bladder.
On occasion, the catheter may irritate the bladder, causing bladder spasms that can be quite uncomfortable. If these occur, your doctor can prescribe medication that can help. Leakage of urine around where the catheter exits the penis also may occur and can be managed by wearing incontinence pads as described in the next section.
It is normal for your urine to look cloudy for a few weeks after surgery. Occasionally, bleeding may occur around the catheter or be noticed within the urine. This also is common. If you see large clots â more than an inch in length â or if the catheter becomes plugged, contact your doctor. No anesthesia is required for catheter removal, and most patients experience only a little discomfort.
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How Does The Procedure Work
Ultrasound procedure:
Ultrasound imaging is based on the same principles involved in the sonar used by bats, ships and fishermen. When a sound wave strikes an object, it bounces back, or echoes. By measuring these echo waves, it is possible to determine how far away the object is as well as the objects size, shape and consistency. This includes whether the object is solid or filled with fluid.
In medicine, ultrasound is used to detect changes in the appearance of organs, tissues, and vessels and to detect abnormal masses, such as tumors.
In an ultrasound exam, a transducer both sends the sound waves and records the echoing waves. When the transducer is pressed against the skin, it sends small pulses of inaudible, high-frequency sound waves into the body. As the sound waves bounce off internal organs, fluids and tissues, the sensitive receiver in the transducer records tiny changes in the sounds pitch and direction. These signature waves are instantly measured and displayed by a computer, which in turn creates a real-time picture on the monitor. One or more frames of the moving pictures are typically captured as still images. Short video loops of the images may also be saved.
MRI procedure:
A computer processes the signals and creates a series of images, each of which shows a thin slice of the body. These images can be studied from different angles by the radiologist.
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What Does Germline Testing Involve
To perform germline testing, your doctor or other healthcare provider will collect a sample of your saliva or blood. They will send this sample to a laboratory for genetic sequencing.
If your genetic test results are positive for certain traits, your doctor may refer you to a genetic counselor. They may also recommend genetic counseling if your test results are uncertain.
A genetic counselor can help you understand the findings.
If youve received a diagnosis of prostate cancer, germline testing may help your doctor predict which treatments are most likely to work for your cancer.
Some immunotherapy treatments may be particularly beneficial for treating prostate cancer in people with certain genetic mutations.
A new class of drugs known as PARP inhibitors have also shown promise for treating prostate cancer in people with certain genetic variants.
Patient And Tumor Characteristics
An outline of the patient cohort is shown in Supplementary Figure 1 . At the first biopsy, 778 patients were diagnosed with PCa . Of the 558 patients not diagnosed with PCa at initial biopsy, during the median follow-up of 30.5 months after biopsy, 72 were rebiopsied at the discretion of the attending physician, and 23 were diagnosed with PCa. At the final data collection, 801 patients were diagnosed by biopsy, and 535 were not diagnosed with PCa . Of the 889 patients with PSA levels 2-10 ng/mL, 446 were diagnosed with PCa and 443 had no PCa detected . Because prebiopsy MRI was not mandated, MRI was performed in only 747 patients of the entire cohort, and 468 of those patients had PSA 2-10 ng/mL. Age, abnormal rectal exam results, PSA levels, prostate volume, and MRI findings were all statistically significantly associated with PCa in both the entire cohort and among patients with PSA levels 2-10 ng/mL. The characteristics of the detected PCa are summarized in Table 2. A total of 674 patients had localized disease , and 62 patients had nonclinically significant cancer . A total of 409 patients had high-risk or advanced cancer .
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What Are Genomics
Genomics is the study of all the genes in the genome and their interactions with the environment. This is related to but not the same as genetics, the study of individual genes and inherited traits from one generation to the next.
The study of genetics in prostate cancer is important because family predisposition may be responsible for 5-10% of all prostate cancers1. A family history increases a mans risk for prostate cancer by 60%.
Genomics in prostate cancer looks at how certain sets of genes in the prostate cancer tumor interact and function. The activity of these genes can then influence the behavior of the tumor, including how rapidly it is likely to grow and spread.
How It Is Done
A prostate biopsy is done by a doctor who specializes in men’s genital and urinary problems . It can be done in the doctor’s office, a day surgery clinic, or a hospital operating room.
Some men have an MRI of the prostate before their biopsy. This helps to find the areas in the prostate to take biopsy samples. If you have an MRI, your doctor will use ultrasound and the MRI results to find the areas to biopsy.
Before your biopsy, you may be given antibiotics to prevent infection. You may be asked to take off all of your clothes and put on a hospital gown.
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Genetic Tests For Prostate Cancer
Recent attention has focused on risk stratification for men for the early detection of prostate cancer insofar as triaging which men should undergo initial prostate-specific antigen testing. However, risk stratification of men with biopsy-proven prostate cancer also remains an emerging field. Several nomograms exist to predict surgical pathology or the subsequent risk of posttreatment biochemical recurrence, including the Cancer of the Prostate Risk Assessment Postsurgical score , Memorial Sloan-Kettering Pre-Treatment Nomogram, and the Partin and Han tables. The rapidly declining cost of genetic analysis using off-the-shelf technology has ushered in a new generation of commercially available genetic assays that further delineate pre- and post-treatment prostate cancer risk for men with biopsy-proven disease. Here we review evidence validating three new genetic assays for prostate cancer that are recently US Food and Drug Administration approved or pending approval.
Validation of a Cell-cycle Progression Gene Panel to Improve Risk Stratification in a Contemporary Prostatectomy Cohort
Cooperberg MR, Simko JP, Cowan JE, et al.J Clin Oncol. 2013 31:14281434.
Development and Validation of the Biopsy-based Genomic Prostate Score as a Predictor of High Grade or Extracapsular Prostate Cancer to Improve Patient Selection for Active Surveillance
Karnes RJ, Bergstralh EJ, Davicioni E, et al.J Urol. 2013 190:20472053.
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Prostate Cancer Gene Expression Testing At Ucsf
A major challenge in tailoring prostate cancer care is identifying men who require immediate or aggressive treatment and those who possess prostate cancers that can safely be surveyed. Several prediction tools have been developed and tested at UCSF including the CAPRA, and CAPRA-S scores. Recently, several commercially available genetic tests taken from an individuals prostate cancer tissue have become available that may assist urologists and patients in clinical decision making. UCSF Department of Urology has collaborated with Genomic Health, Inc and Myriad Genetics to evaluate genomic biomarkers, as well as conducted several independent studies of these markers.
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