Most cancers happen by chance, from changes that build up in cells over a lifetime. A smaller share run in families because of an inherited change in a single gene, passed from parent to child. Germline genetic testing looks for those inherited changes, using a blood or saliva sample. When one is found, it can change how you are screened, how a cancer you already have is treated, and what your parents, siblings and children should know about their own risk.
At NYMD Center, genetic testing sits naturally alongside the work our urologists, gynecologists and internists already do. Prostate, breast, ovarian, uterine and colon cancers are among those most strongly tied to inherited genes, and the results often affect several specialties at once. We help you decide whether testing makes sense, choose the right panel, understand the result, and turn it into a screening plan.
Genetic testing is not a screening test for cancer itself. A negative result does not mean you will never get cancer, and a positive result does not mean you will. It tells you about risk, and risk is something that can be managed.
Who should consider genetic testing
The National Cancer Institute advises genetic testing for people diagnosed with certain cancers, including triple-negative breast cancer, ovarian cancer, pancreatic cancer, colorectal cancer before age 50, metastatic prostate cancer and male breast cancer. For men with prostate cancer, the NCI's professional summary on prostate cancer genetics also supports germline testing for high-risk and very-high-risk localized disease, not only metastatic disease.
Family history is the other main reason. Patterns that suggest an inherited risk include several relatives on the same side of the family with the same or related cancers, cancers diagnosed at unusually young ages, one person with more than one primary cancer, ovarian or male breast cancer anywhere in the family, and a relative already known to carry a harmful variant such as a BRCA mutation. Ancestry can matter too; for example, certain BRCA variants are more common in people of Ashkenazi Jewish descent. If a relative has tested positive, testing you for that specific variant is usually simple and very informative.
What the test looks for
Modern testing uses panels that check many genes at once. The ones we discuss most often are BRCA1 and BRCA2, which raise the risk of breast, ovarian, prostate and pancreatic cancer; the Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2 and EPCAM), which raise the risk of colon, uterine, ovarian and other cancers, including prostate cancer at younger ages; HOXB13, which is linked specifically to prostate cancer; and ATM, PALB2 and CHEK2, which affect breast and prostate risk. The NCI's prostate genetics summary lists BRCA1, BRCA2, ATM, PALB2, CHEK2 and the mismatch repair genes as a minimum panel for men with metastatic or high-risk prostate cancer.
Panels range from a focused hereditary panel covering the breast, ovarian, uterine, prostate and gastrointestinal cancers to a broader multi-cancer panel that adds genes linked to endocrine, genitourinary, skin, brain, blood and other cancers. Broader is not always better, because more genes also means more uncertain findings. We help you pick the panel that fits your personal and family history.
Germline versus tumor testing
Germline testing looks at the genes you were born with, present in every cell and shareable with family. Somatic, or tumor, testing looks at the genetic changes inside a cancer itself, using tissue from a biopsy or surgery or sometimes a blood sample. Tumor testing helps oncologists choose targeted drugs and gauge prognosis, but most of the changes it finds are not inherited. Sometimes a tumor test hints at a possible inherited change, and germline testing is then used to confirm it.
Genetic counseling, before and after
Counseling is generally recommended before testing. We review your personal and family history, explain what the test can and cannot tell you, and talk through how you might feel about each possible result and who in your family might be affected. When results are complex, when a harmful variant is found, or when you would benefit from a dedicated specialist, we refer you to a certified genetic counselor. After testing, we go through the report with you line by line.
What the results mean
Positive
A harmful (pathogenic) variant was found. Your risk for certain cancers is higher than average, and screening usually starts earlier and happens more often. Close relatives each may carry the same variant and should be offered testing.
Negative
No harmful variant was found in the genes tested. If a relative is known to carry a specific variant and you do not, that is a true negative and your risk for that syndrome is similar to the general population. If no one in the family has a known variant, a negative result is less conclusive, and screening is still guided by your family history.
Variant of uncertain significance
A change was found, but there is not yet enough evidence to say whether it raises risk. Most of these are later reclassified as harmless. We do not change screening based on an uncertain variant alone, and we keep an eye out for updated classifications.
How results change screening and care
A positive result turns general guidelines into a personal plan. For men with BRCA2 or other prostate-related variants, prostate cancer screening with PSA often starts earlier and is followed more closely. Women with BRCA variants may begin breast imaging earlier and discuss risk-reducing options with gynecology. Lynch syndrome usually means earlier and more frequent colonoscopy and attention to uterine and ovarian risk. For a patient who already has cancer, the result can influence treatment choices, including eligibility for certain targeted therapies. Our cancer screenings page covers the standard schedules, and our cancers page explains how we diagnose and coordinate treatment.
Insurance and privacy
Most major insurers cover genetic testing when guideline criteria are met, and we help you understand the expected cost before a test is ordered. The federal Genetic Information Nondiscrimination Act (GINA) protects you from discrimination based on genetic information by health insurers and employers. It does not cover life, disability or long-term care insurance, which is worth considering before testing if you plan to buy those policies.
What to expect at your visit
Come with as much family history as you can gather: who had cancer, which type, and at what age. The visit covers your history, a discussion of whether testing is appropriate and which panel to use, and the sample itself, usually a blood draw or saliva kit. Results typically return within a few weeks, and we schedule a visit to go over them together. We care for adults only; questions about testing children should go to a pediatrician or genetics clinic.
Questions patients ask
Who should get genetic testing for cancer risk?
Testing is worth discussing if you have had triple-negative breast, ovarian, pancreatic, metastatic or high-risk prostate, or male breast cancer, or colorectal cancer before 50. It is also worth considering if several relatives on one side had related cancers, cancers appeared at young ages, or a relative is known to carry a harmful variant such as BRCA.
Why would a urologist order genetic testing?
Inherited variants in genes such as BRCA2, ATM, HOXB13 and the Lynch syndrome genes raise prostate cancer risk and can be linked to more aggressive disease. Knowing a man carries one can mean starting PSA screening earlier, following it more closely, and for men with prostate cancer, can shape treatment. It also alerts relatives to their own risk.
What is a variant of uncertain significance?
It is a genetic change that has been found but not yet shown to raise or not raise cancer risk, because there is not enough data. Most are eventually reclassified as harmless. We do not change your screening based on one alone and follow your family history instead, while watching for updated interpretation from the lab.
Can my genetic results be used against me by insurers or employers?
The Genetic Information Nondiscrimination Act prevents health insurers and employers from using your genetic information against you. It does not protect against decisions on life, disability or long-term care insurance. If you are planning to buy those policies, it is reasonable to consider timing before you test.
Is genetic testing covered by insurance?
Most major insurers cover germline cancer testing when your personal or family history meets guideline criteria. Coverage and out-of-pocket cost vary by plan and laboratory. We review your history against the criteria and help you understand the expected cost before ordering the test.