What is Genetic Cancer Screening?
Genetic cancer screening is a process of analyzing the patient’s DNA to determine whether they carry the hereditary changes in their genes that put them at a higher risk for cancer. The screening process involves reviewing the patients’ personal medical history as well as their close relative’s history of cancer, collecting and testing their DNA, and reviewing results through appointments with a genetic counselor. The test result is a risk assessment that indicates the likelihood that you may develop a specific type of cancer.
What is Hereditary Cancer?
About 5-10% of cancers are believed to be caused by genetic changes that are inherited, or passed down within families. These are referred to as “pathogenic” or “likely pathogenic variants.” Having your genetics tested can help you understand whether you are at a higher risk for certain types of cancer.
While most cancers are not passed down in families and are due to environmental factors or genetic mutation, other cancers arise due to an inherited predisposition. The hereditary cancer syndromes that can be tested for might predispose someone to:
- Breast cancer
- Colon cancer
- Kidney cancer
- Melanoma
- Ovarian cancer
- Pancreatic cancer
- Prostate cancer
- Sarcoma
- Stomach cancer
- Thyroid cancer
- Uterine cancer
Who Should Have Genetic Cancer Screening?
There are several risk factors that may indicate you are a good candidate for genetic counseling and screening.
Multiple Family Members with the Same Type of Cancer
You should consider genetic screening if two or more close relatives on the same side of your family have been diagnosed with the same type of cancer. Additionally, you may want to have genetic screening if multiple family members have had bilateral or multiple primary tumors or ten or more colorectal polyps.
Relatives Diagnosed with Early Onset Cancer
If close members of your family have been diagnosed with cancer before age 50, getting a screening for genetic cancer may be beneficial to you. This is especially true if they have been diagnosed with early onset breast, colon, or uterine cancer.
Family History of Certain Types of Cancer
Certain cancers represent a higher risk for being hereditary regardless of how many of your relatives have been diagnosed or the age at which they were diagnosed. These include ovarian, pancreatic, male breast, metastatic prostate, and triple negative breast cancers.
Ashkenazi Jewish
Those with Ashkenazi Jewish heritage and a family history of breast cancer are at a higher risk to have a hereditary predisposition to cancer and should consider cancer genetic counseling and screening. Ashkenazi Jewish patients can also expect that genetic counseling will be recommended both before and after their testing.
People Who Have a Previous Cancer Diagnosis
If you have had a previous cancer diagnosis, genetic screening may be helpful for your future care. Having genetic testing performed, even if you have already had cancer, can help determine the underlying cause and predict future cancer diagnoses. It can also help your medical team develop better cancer treatment plans. You might learn information that can be useful for your close family members.
How Does Genetic Testing Work?
Genetic testing is a relatively simple process for the patient. First, your doctor will ask you a series of questions regarding your family history of cancer and your personal medical background to determine whether testing is recommended for you.
If it’s decided that you should move forward with a genetic cancer test, a blood or saliva sample will be collected along with personal and family medical histories. The blood or saliva sample will be sent to a lab to be analyzed, which typically takes about two or three weeks. In some cases, your doctor may also recommend that you schedule an appointment with a Medical Geneticist or genetic counselor before you have a test completed.
After being screened for genetic cancer, you will speak with a certified genetic counselor by telephone. A genetic counselor is a medical professional who has a thorough understanding of the complicated field of genetics and is trained to explain what your results are and help you decide what the appropriate next steps are regarding your medical care.
Genetic Cancer Test Results
Genetic test results may be positive, negative, or inconclusive.
A positive result means that a genetic change associated with an increased risk of cancer was detected. Given this result, your genetic counselor and your doctor will recommend a treatment plan to manage your risk.
A negative result means that no genetic changes associated with cancer were identified. This means that you do not carry any of the hereditary cancer pathogenic variants that were included on the test. When interpreted in the context of your personal and familial medical history, it might mean that you are not at a higher risk for the types of cancer that were tested for. In some cases, due to a significant personal or family history of cancer, you and your family might still be at increased risk for a hereditary cancer predisposition. This risk might be due to genetic factors that have not yet been discovered or where not detectable by the test. In either scenario, I you would still be encouraged to prioritize a healthy lifestyle and adhere to routine cancer screening guidelines in order to maintain your health.
Inconclusive results mean that some genetic change was identified, but there is insufficient information available to determine whether this means you are at an increased cancer risk. Commonly, your healthcare team will not recommend a course of action due to this result. However, like negative results, you should continue to live a healthy lifestyle to further minimize your risk of developing cancer.
Your genetic counselor will explain these results to you in detail and ensure that you understand your risk of genetic cancer, as well as your potential treatment options.
Genetic Testing and Health Insurance
Genetic testing is generally covered by health insurance. If your out-of-pocket expenses are high, financing, financial assistance, or other options may be available.
Some patients have concerns that results from genetic cancer screening can make it difficult to gain health insurance or certain types of employment in the future. The US Genetic Information Nondiscrimination Act (GINA) prohibits this type of discrimination by employers and health insurance providers in certain situations. In addition, some states have laws addressing genetic discrimination. For more information regarding this issue, you may refer to ginahelp.org.
Schedule an Appointment
If you’re interested in cancer genetic counseling and screening in New York state, schedule an appointment at Carnegie Women’s Health. Contact our New York, NY offices by calling (315) 628-7063 or request your appointment online.
