What To Expect at Your Cancer Genetic Testing Appointment

It’s important that you fill out the family and medical history surveys at least three days before your appointment. This allows the genetic counselors time to put together a family tree and prepare for your visit. You will receive a survey link prior to your scheduled appointment.

It is okay if you don’t have detailed information about all of your family members. We ask patients to start by simply doing their best to fill out the forms. If the genetic counselor feels additional family history information would be valuable to your decision-making process, they will review this with you during the genetic counseling appointment.

We also ask all of our genetic counseling patients to watch the following 8-minute educational video before your appointment. This video explains the entire genetic testing process, and will save you time during your actual genetic counseling appointment.

Watch Video

Family History Survey

Follow these tips for completely filling out this important form:

• Include all family members regardless of whether or not they have had cancer. If you do not know your family member’s exact age, please include your best guess for their age.
• If any of your family members have had genetic testing, please include a copy of their test report, or at the very least, try to contact your family member who had genetic testing to find out the results of their genetic test. The more information you can provide here, the more specific your genetic counselor can be in their recommendations for you.

As a new patient, your first visit will be with a genetic counselor. A genetic counselor is a health professional with graduate training in medical genetics and counseling. All genetic counselors at BIDMC are board certified and licensed by the State of Massachusetts.

Your first visit will last 30–75 minutes. During this visit, the counselor will:

• Review your family and medical history
• Assess your family’s risk for hereditary cancer
• Discuss hereditary cancer and genetic testing options

The decision to have genetic testing is personal and always optional. Even if you decide not to pursue genetic testing, this first visit is a good chance to gather information and ask questions. This involves submitting paperwork and coordinating a saliva sample of blood test. Saliva genetic testing kits can be mailed directly to your home. Your genetic counselor will review this option with you in more detail at your appointment.

Depending on the results of your genetics test, you may benefit from more frequent or additional cancer screenings. Our office will work with your health care providers to set up a screening schedule that’s right for you based on your family history and/or your genetic test results. You may be offered an appointment to meet with one of the medical oncologists or gastroenterologists within our program.

Test Results – Positive

A positive genetic test result means that a gene — which is normally protective — is not working the way it should. We refer to this type of result as a mutation. This leads to an increased risk for certain types of cancer.

What does this mean for you? 

A certified cancer genetic counselor will discuss with you:

• Cancer risks related to your genetic test result
• Options available for cancer screening and prevention

Your genetic counselor may refer you to a physician with expertise in cancer genetics.

If you are a patient with a cancer diagnosis, your medical oncologist will discuss if any treatment options are more effective based on your genetic results.

What does a positive genetic test result mean for your family?

If your results are positive, your family members may have the same mutation. The most common gene mutations may be passed from both mothers and fathers to sons and daughters. A certified cancer genetic counselor will discuss with you:

• Who else in the family should consider genetic testing
• Cancer risks for family members
• Options available for cancer screening and prevention for family members

Family members who live nearby can come to our program for testing. Or we can try to find cancer genetics experts where other family members live.

Test Results – Negative

A negative (normal) result means that the lab did not see any mutations in the genes analyzed with this testing. Possible explanations for negative results include:

• You may have a mutation in a gene that was not analyzed.
• You may have a mutation that was not detected with current technology.
• Your cancer may be sporadic, even if you have cancer in your family.
• There is a genetic explanation for cancer in your family, but researchers have not discovered the gene or genetic mechanism yet.

What does this mean for you?

Your medical care should be based on your personal health history and family history of cancer.

What does a negative genetic test result mean for your family?

We would not recommend this testing for your children based on your cancer history. Of course, your children receive half of their genetic information from their other parent. If their other parent has a significant family history of cancer, genetic counseling and testing can be considered. And genetic testing may still be appropriate for other family members, depending on the family history of cancer. 

Test Results – Variant of Uncertain Significance (VUS)

A VUS result means the lab found a genetic change in one (or more) of the genes analyzed. However, this change may be a normal genetic difference between people and not necessarily related to a risk for cancer.

Most VUS are benign (not cancer-causing). If the lab reclassifies your VUS as a cancer-causing mutation, we will make every effort to follow up with you. However, we encourage you and your health care team to check in with us every year to review the status of your VUS.

What does this mean for you?

A VUS result will not change your medical care. Your medical care should be based on your personal health history and family history of cancer.

What does a VUS genetic test result mean for your family?

We would not recommend this testing for your children based on your cancer history. However, genetic testing may be appropriate for other family members, depending on the family history of cancer.

What is genetic testing?

Genetic testing is a way to look for mutations or changes in your DNA (the genetic material you inherit from your parents). In most cases, the genetic testing lab completes genetic testing using a saliva sample or a standard blood draw. You do not need to fast or do any type of preparation before a blood draw for genetic testing.

How much does genetic testing cost? Will it be covered by my insurance?

Most insurance companies cover the cost of testing when a health care provider recommends it. The cost of genetic testing varies depending on what test is ordered and each patient’s specific health care coverage.

If you prefer to know about any out-of-pocket costs for genetic testing before testing, the genetic counselor can discuss this with you during your visit.

What are the risks of genetic testing?

Some patients who have not already had cancer may have questions about genetic discrimination. Sometimes learning this information causes anxiety, distress or depression for you or your family members.

Some family members who haven’t already had genetic testing may have questions about genetic discrimination. There are national and state laws that prevent genetic discrimination by employers and health insurers, based on this type of genetic test result. (See below for more details.)

How long does genetic testing take?

Genetic test results typically take between 2-4 weeks. For patients who need urgent genetic testing that may alter their surgical decisions or immediate cancer treatment options, we may be able to get results back sooner — typically within 5 to 12 calendar days.

Will I be discriminated against because I had genetic testing?

Genetic discrimination is a concern for some patients when considering genetic testing. Federal and state laws prevent genetic discrimination based on genetic test results. The Genetic Information Non-Discrimination Act (GINA) provides protection from genetic discrimination on a national level.

GINA prohibits discrimination by health insurance companies and employers based on genetic information. In this case, genetic information is defined as:

• Your genetic test results
• Your relatives’ genetic test results (up to and including fourth degree relatives)
• Information about family history of any disease or disorder

These laws, however, do not protect individuals from genetic discrimination in life, long-term disability or long-term care insurance policies. Some individuals consider making changes to their insurance policies before pursuing genetic counseling and testing. This is more often a concern for individuals who have never been diagnosed with cancer.

To our knowledge, insurance discrimination based on genetic testing is rare. If you are concerned about the potential for genetic discrimination, we encourage you to discuss these concerns with a genetic counselor and/or insurance agent prior to undergoing genetic testing.

Who in my family should first get genetic testing?

Genetic test results provide the most information to a family when the first person to have genetic testing is an individual who has been diagnosed with cancer. If a family meets criteria to consider genetic testing, but the family members who have had cancer are unable or unwilling to be tested, genetic testing for individuals without a cancer diagnosis may be recommended.

Will I meet with a doctor during my appointment?

Your first appointment likely will be with a genetic counselor. A genetic counselor is a health professional with graduate training in medical genetics and counseling skills. Genetic counselors can:  

• Identify and interpret risks of inherited disease
• Recommend appropriate genetic testing
• Discuss how genetic testing affects individuals and families

Your genetic counselor may schedule a follow-up visit with a physician to discuss medical management recommendations based on your family history and/or genetic test results.

What if I have already had genetic testing? Do I need to have it again?

Our knowledge about hereditary cancer changes over time, as does genetic testing technologies. If you’ve already had genetic testing, we encourage you to talk to your doctor to see if updated genetic testing may be right for you.

For example, an update to the BRCA1 and BRCA2 test for hereditary breast and ovarian cancer was added in 2006. If you had BRCA testing prior to 2006, you may be eligible for updated testing. Even those who had testing after 2006 may be eligible for updated BRCA1/BRCA2 testing since not all insurance companies covered this testing when it first became available.

In addition, we now offer testing for more genes than we were able to even a few years ago. You may be eligible for updated cancer gene panel testing.

What if I just want genetic testing and not genetic counseling?

We believe it’s important to meet with a genetic counselor before you have genetic testing. A genetic counselor can help order the right test based on your personal and/or family history of cancer. Meeting with a genetic counselor also gives you the chance to ask questions about the genetic testing process and understand the potential implications of a positive or negative genetic test result.

What if I just want genetic counseling and not genetic testing?

Genetic testing is always optional. You are welcome to come for a consultation with a genetic counselor to gather more information, even if you choose not to pursue genetic testing.