Hereditary Cancer Testing

Hereditary cancer testing is a genetic test that assesses whether an individual was born with a gene not working (mutated) that increases the chance of developing specific cancers.

Current genetic testing guidelines endorse hereditary cancer genetic testing for anyone of Ashkenazi (typically Eastern European) Jewish descent. In addition, anyone with a personal or family history of cancer can consider genetic testing.

Hereditary cancer testing can be considered for anyone with a personal or family history of cancer. To be eligible for our program, you must have at least 1 grandparent who is Ashkenazi Jewish descent by birth (not conversion).

The Sarnoff Center’s screening program uses Next Generation Sequencing (NGS), which is the most advanced form of testing available today and provides the most accurate detection rates. NGS screening requires either a blood or a saliva sample. Most participants in our screening program provide a saliva sample. In some cases, a participant may want or need to provide a blood sample instead.

If you get screened through your healthcare provider, keep in mind that different laboratories use different methods of sample collection and provide testing using different technologies. Most NGS panels include a set number of genes linked to common and sometimes rare cancers. But, the type of testing and number of conditions that doctors order can vary.

We have genetic counselors available to answer any questions you have about the process. Our genetic counselor also reviews every family history prior to ordering the hereditary cancer testing. Some people also discuss hereditary cancer risk and genetic testing with their primary care doctor, medical/surgical/radiation oncologist, OBGYN or other provider, who can order genetic testing or refer you to a specialized provider.

Choosing to undergo genetic testing for hereditary cancer is a personal choice and generally, there is no right or wrong time to get it done if you do not have a recent cancer diagnosis. If you have been recently diagnosed with cancer, testing sooner rather than later is important as the information can impact treatment recommendations.

Yes, screening can still be done if you have cancer, whether you have had it in the past or currently have it. The only restriction would be if you had a bone marrow transplant with a donor’s bone marrow or if you have had a blood transfusion within a month of when the testing is performed.

Our screening panel tests for 63 different genes that cover 11 primary cancer types. For a full list of conditions on the screening panel, see our types of hereditary cancer genes database.

If you have any questions or want to learn more about conditions on our screening panel, please contact us to speak to a genetic counselor.

The hereditary cancer testing has only 1 gene that is also covered on carrier screening; the gene is called ATM. However, many of the genes on the hereditary cancer testing can cause recessive cancer syndromes, this means that you need both copies of a gene not working to be at risk for the disorder. Therefore, if the testing identifies that you are a carrier (1 gene not working) for a recessive cancer syndrome, testing of your reproductive partner would be needed to determine if your children are at risk of developing the recessive condition. Otherwise, if you need testing for family planning purposes, you should consider enrolling in our other program.

If you have already undergone a hereditary cancer test, you may be eligible for re-screening, depending on what previous testing you had performed. Please do not register for the program and contact us to discuss this in more detail.

If you have a positive genetic test result for a hereditary cancer risk, our genetic counselors will review your test results in detail with you, discuss your cancer screening and risk reduction options, the implications to your family, and refer to local healthcare providers who are knowledgeable and have expertise in the managing individuals who have a hereditary cancer risk. Your family members would be eligible to come through our testing program as well.

Some companies now offer direct-to-consumer (DTC) or consumer-directed genetic testing (CD-GT) hereditary cancer panels. This means that you order the testing yourself through their website, and results are released to you directly or a healthcare provider affiliated with the company. Although it is an online process, our program is NOT direct-to-consumer or consumer initiated testing because it includes an educational course and genetic counseling. Our genetic counselors will review your family history prior to ordering your test and will call you with your results to ensure you can ask any questions.

The American College of Medical Genetics and the National Society of Genetic Counselors caution consumers to consider several issues before pursuing direct-to-consumer or consumer-directed testing. It is important for consumers to know exactly what testing is being ordered, if they are appropriate tests based on personal and family history, and what the tests will tell them. It is also important to note that genetic counseling is sometimes offered but usually not required through this type of testing. You should discuss this information with your doctor or a genetic counselor before pursuing such testing.

To be eligible for the Sarnoff Center’s genetic screening program, participants must reside in Illinois and have 1 grandparent of Ashkenazi Jewish ancestry. If you do not live in Illinois, we’re happy to point you to several other local and national Jewish carrier screening resources.

• JScreen (National. Based out of Atlanta, GA)
• Chicago Genetic Consultants (Northbrook, IL)
• The Program for Jewish Genetic Health of Yeshiva University (New York, NY)
• Minkoff Center for Jewish Genetics (Scottsdale, AZ)

Have questions or want more information? Contact us at (312) 357-4718 or [email protected] to speak with a staff member or our genetic counselor. You can also use the National Society of Genetic Counselors’ Find a Genetic Counselor tool to find a genetic counselor in your area.

Note: The resources on this page are provided as a convenience and the Sarnoff Center bears no responsibility for the content of these external sites.

Opting for hereditary cancer genetic testing is a personal choice and does not require a partner to be done as well. Your partner is welcome to come through the program if they are interested in learning about their cancer risk if they meet the program criteria (have at least 1 grandparent that is of Ashkenazi Jewish descent).

The hereditary cancer test includes testing for 11 main cancers including: breast, colorectal, lung, kidney, ovarian, pancreatic, prostate, skin, stomach, thyroid, and uterine cancer. Of note, some of the genes can cause other cancers not included on this list.

There are state and federal laws that protect people from health insurance discrimination based on the genetic test results. There are no state or federal laws that offer protection for other types of insurance such as life, long term, or disability insurance. If you have these insurances in place, the test results cannot impact current policies (if you have had them for more than ~2 years). Our education module discusses this information in more detail, but if you have questions about this, our genetic counselors are available to discuss this issue.

Genetic test results for hereditary cancer can have one of three main possible results:

1. Positive – a genetic change is found in a gene that causes the gene not to work and will increase the chance of developing certain cancers.
2. Negative – none of the genes have any identifiable changes that strongly rule out a hereditary cancer risk. However, genetic testing is not perfect and depending on your personal and/or family history, it is possible a hereditary cancer risk was missed.
3. Inconclusive – a genetic change is found in a gene, but it is not clear if that change increases the risk of cancer (positive) or is normal human variation and has no association with cancer risk (negative).

Our genetic counselors review the results with you so that you have a complete interpretation of what the results mean for you based on your personal and family history.

The hereditary cancer test we offer is single gene testing, not a polygenic risk score. A polygenic risk score estimates a person’s likelihood of developing a certain disease based on many small genetic variations across their DNA. Each of these variations contributes a tiny amount to overall risk, and when combined, they can provide insight into a person’s inherited susceptibility to conditions like heart disease, diabetes, or cancer. Polygenic risk scores show probabilities, not certainties as lifestyle and environment also play major roles in health.

The test we offer is a DNA based test only. The addition of testing the RNA can sometimes find certain harmful changes in the genetic code that cannot be found be looking at the DNA. Our laboratory partner, Myriad Genetics, may request a blood sample to analyze an individual’s RNA if they are suspicious about the test results. Most people will not have their RNA analyzed.