Genetic Testing Frequently Asked Questions

Genetics 101

What is a cancer risk?

A cancer risk is the chance that a person will develop cancer.

What does it mean to have an inherited risk for cancer?

An "inherited risk" for cancer occurs because a person is born with a non-working gene (also known as a gene mutation), which increases the risk for that person to develop a certain type of cancer or cancers. You may also hear this referred to as “hereditary cancer.”

People who are found to be at increased risk to develop cancer can be offered specialized cancer screening as well as risk reduction options to help manage their increased risk.

How many people have an inherited risk for cancer?

Out of every 100 people diagnosed with cancer, about 5-10 people (5-10%) have an inherited risk for cancer.

What is sporadic cancer and how is it different from hereditary cancer?

Cancer is a common disease. Most cancers are considered sporadic, meaning they are not due to hereditary factors (gene mutations that are passed down from parent to child). People can develop sporadic cancer for many reasons: aging, environmental exposures, certain lifestyle factors, or chance events. When a cancer is hereditary, it is mainly due to a gene mutation (in addition to the reasons listed above).

What are some genetics basics that are helpful for me to know?

Genes are made up by the DNA we inherit from our parents. We all have two copies of each gene (one from each parent). The DNA sequence of a gene is a code with instructions to make a functioning protein (like a recipe). Inherited changes to the DNA code can cause the gene to stop working. This prevents the protein from being made properly. Certain types of genes are responsible for controlling how cells grow. These genes help prevent cancer. People who inherit a mutation (change to the DNA sequence) in a gene that normally prevents cancer may have increased cancer risks.

What does a gene mutation mean about my risk for cancer?

A gene mutation means that your risk to develop certain cancers in your lifetime is increased. Learning about these gene mutations helps to predict what type of cancer you may develop.

Genetic Counseling Prep

What is genetic counseling?

You can think of genetic counseling like an individualized education session. It involves using family history information to guide recommendations for genetic testing, cancer screening and/or treatment options. It is also an opportunity to have a genetic counselor answer your questions and explain genetics in a clear, easy-to-understand way. For more information on genetic counselors, click here.

What is a cancer genetic counselor?

A genetic counselor is a health care professional with specialized graduate training in the areas of medical genetics and counseling. Genetic counselors work as a member of the healthcare team, providing information, facilitating decision making, coordinating genetic testing and giving support to patients and families who are at an increased risk to develop cancer. Genetic counselors help patients to manage their cancer risks by educating patients about medical management guidelines, and coordinating referrals to appropriate specialists.

To find out more, visit the National Society of Genetic Counselors (NSGC) website here.

Why was I referred to cancer genetics?

Cancer is a common disease; many people have a family member who has had a cancer diagnosis. A person may be referred to meet with a cancer genetic counselor if his or her personal and/or family history of cancer displays specific features that suggest a predisposition. For example, these features can include a young age at cancer diagnosis or multiple family members who have had similar or related cancers. (Please see the CCRA website for more specific referral information.)

What if I don't need counseling, I just need the test?

Genetic counseling is a very important part of the genetic testing process and is essential at Mass General. The purpose of the genetic counseling session is to:

• assess the risk for hereditary cancer based on your family history
• provide education about genes and genetic testing
• discuss the risks, benefits, and limitations of genetic testing
• discuss what genetic testing means for you and your family
• make sure that the necessary procedures (mandated by state law) for informed consent are followed and
• make sure that the test is correctly ordered and interpreted

What should I bring to my genetic counseling appointment?

It is important to gather information about your family history of cancer:

• which family members have had cancer
• what type of cancer they had
• ages they were diagnosed

Your genetic counselor will ask you about your children, siblings, parents, grandparents, aunts, uncles, and cousins on both sides of your family.

Finally, if any family members have already had genetic testing, it is important to bring a copy of the test results with you to your appointment.

What if I can't find information about my family history?

Please still come to your genetic counseling appointment. Many people have limited understanding of their family history for various reasons. The genetic counselor will be able to provide you with information regardless of how detailed your knowledge is.

How do I collect family history information?

Some patients have found it helpful to put together a list of family members, showing which family members have had cancers, their ages at diagnosis, and any other relevant information, such as genetic testing results.

Do I need to bring medical records to the appointment?

Although it is not necessary, it can be helpful to bring medical records related to your personal or family history of cancer. If your genetic counselor does need certain medical records to assess your risk, he or she will help you to gather this information.

The Genetic Counseling Appointment

Can family members come with me to my appointment?

Yes! There will be a lot of information discussed during a genetic counseling visit. A "second set of ears" is always a good idea. Some patients feel it is helpful to have a support person with them. Feel free to bring along a friend or family member.

How long will my genetic counseling appointment last?

These appointments typically last for one hour.

What will happen at my genetic counseling appointment?

During your appointment, you will meet with a genetic counselor. In some of our clinics, you will see a physician at the same time. The genetic counselor will review your personal medical history and will take a detailed family history, focusing on the cancers in your family. Based on this information, your genetic counselor will assess the likelihood for an inherited cancer gene mutation in your family. Your genetic counselor will provide information about basic genetics and explain the genetic test options that are relevant to you. He or she will review the risks, benefits and limitations of genetic testing, discuss the potential results, and obtain informed consent. Your genetic counselor will help you to make an informed decision about genetic testing. 

Genetic testing is a personal choice and your genetic counselor will help you to decide whether genetic testing is the right choice for you.

I have had genetic testing in the past, is there any reason to meet with a genetic counselor again?

Yes! If your personal or family history of cancer has changed since your last genetic counseling visit, your risk assessment may also change. Your genetic counselor may offer additional genetic tests, and/or suggest referrals to specialists for cancer screening recommendations.

Even if your family history has not changed over the years, your genetic counselor may recommend additional genetic testing for you. The field of cancer genetics changes at a very fast pace. Many genes have already been linked to cancer risk, and there are many newly discovered genes for which clinical genetic testing has only recently become available.

If you have a gene mutation, follow up genetic counseling visits can help to make sure that you and your family are up to date on current screening and prevention recommendations.

Can I have genetic testing the same day as my genetic counseling appointment?

Yes! Genetic testing can be done the same day as your appointment, or you can choose to have it done at a later date.

Is genetic counseling covered by health insurance?

A genetic counseling appointment is usually covered by health insurance. However, your insurance may require you to get a referral for your genetic counseling appointment. It is important to check with your insurance company to find out about your specific coverage for genetic counseling.

How do I schedule an appointment?

Our genetic counselors see patients at the main Mass General campus in Boston, as well as the satellite clinics in Danvers, Concord, and Waltham. To schedule an appointment, please call the number below:

• Mass General Cancer Center main campus (Boston): 617-724-1971
• Mass General Cancer Center in Danvers: 978-882-6370
• Mass General Cancer Center at Emerson Hospital – Bethke (Concord): 978-371-4805
• Mass General Cancer Center in Waltham: 781-487-6100

Genetic Testing

How is the genetic test done?

If you decide to have genetic testing, you will typically have a blood sample taken. The blood sample is sent to a specialized laboratory for analysis. Less often, other types of samples are used, such as saliva (spit) or a skin sample.

Why should I consider genetic testing?

If you are found to have an inherited cancer gene mutation, our team will recommend ways to better manage your risk. These recommendations can reduce your risk for developing cancer or can find cancer at an earlier stage, when it is easier to treat.

These recommendations may include:

• more frequent cancer screenings
• screening tests specific to your cancer risk
• surgery that can reduce your risk
• certain medications

Can I eat before my blood test?

Yes, you can eat as you normally would.

How many genes will be on my test? What types of genetic testing are there?

Genetic testing can include analysis of one gene or multiple genes. Often, more than one gene is linked to a certain type of cancer. Depending on the cancers that have occurred in you and/or your family, you may be offered a test that looks at multiple genes.

More recently, “multi-gene panels” are becoming a common choice. This testing allows for large groups of genes to be analyzed at the same time. The risks, benefits, and limitations of multi-gene panel testing will be discussed during your genetic counseling visit.

What is the difference between genetic testing done on a tumor versus a blood sample?

• Genetic testing on a blood sample gives information about the genes that you were born with, known as the "germline." Mutations that occur in the germline are hereditary and can be passed on to children.
• Genetic testing on a tumor sample shows genetic changes that have occurred within the cells of a developing tumor. These are usually "acquired" genetic changes. Acquired genetic changes cannot be passed on to children.

How long will it take to get my genetic test results?

The amount of time depends on the specific test that was ordered. Most tests are returned within 2-3 weeks, but some may take up to 8 weeks. Your genetic counselor will review this with you during your appointment.

How will I get my results?

Learning genetic test results can bring up emotions for some people; therefore how you learn the results is up to you. Many patients prefer to learn their genetic test results over the phone, and will schedule a follow up visit to discuss the results in person if needed. Other patients will prefer to receive their results during a planned visit. Your genetic counselor can help you to decide what is best for you.

Is genetic testing covered by health insurance?

Genetic testing is usually covered by insurance when indicated. Coverage usually depends on many factors, including your specific insurance plan and the cancer history in your family. The genetic counselor will review this information with you during your initial genetic counseling appointment and may be able to work with your insurance company to obtain coverage for testing. For patients who are not covered for genetic testing by insurance, it is important to note that the cost of genetic testing is becoming more affordable for patients who have to pay for this out of pocket.

Is my genetic information protected?

Yes. Your genetic test results are protected under the same HIPAA laws as the rest of your medical records. In addition, there are Massachusetts state laws and U.S. federal laws which prohibit discrimination in certain circumstances based on genetic test results. This protects people from health insurance discrimination and employer discrimination. To read more about this, visit Genetic Information Nondiscrimination Act here.

Where can I learn more about genetic testing?

Please click here to learn more about genetic testing.