With recent advancements in technology and increasing attention from the media, much has been in the news about genetic testing for cancer risk. Although the genes a person is born with may contribute to their risk of developing certain types of cancer, only about 5-10 percent of all cancers are genetic. These cancers are caused by a broken or mutated gene that is passed down in families from one generation to the next.
Genetic counselors at the Northside Hospital Cancer Institute (NHCI) Cancer Genetics Program are specially trained experts that work with patients who are concerned about their family history of cancer and are considering genetic testing.
Cancer is usually caused by gene mutations that occur randomly in one or a few cells of the body. Such gene changes, called somatic mutations, may arise as a natural consequence of aging or when a cell’s DNA has been damaged. Acquired mutations are only present in some of the body’s cells, and they are not passed on from parents to their children.
However, in a small percentage of people with cancer, the disease is due to a different type of mutation called a hereditary mutation, or germline mutation. These mutations are usually inherited from one or both of the person’s parents, and are present in nearly every cell of the body. Because hereditary mutations are present in the DNA of sperm and egg cells, they can be passed down in families.
People who carry such hereditary mutations do not necessarily get cancer, but their risk of developing the disease at some point during their lifetime is higher than average.
In recent years, scientists have discovered a number of mutations that can contribute to a person’s risk of developing certain cancers, including breast, ovarian, colorectal and prostate cancer, as well as some other, less common cancer types.
Genetic counseling occurs before genetic testing is considered. Meeting with a genetic counselor does not always mean a person is ready to have testing. Some people come in for an evaluation to learn about their options and to understand the implications of testing for themselves and their families. Our genetic counselors also help individuals understand how genetic testing might impact their family members since one genetic test has the potential to provide risk information for many family members at once.
Genetic testing is always most beneficial when it begins with the individual in a family who has or has had cancer. However, in some cases testing can also be done in someone without cancer because of the history in their close relatives.
Genetic testing for hereditary cancer risk can be valuable for several reasons.
During an initial visit with a genetic counselor, patients receive an in-depth consultation to examine their personal and family history. Our staff will draw a detailed family tree, or pedigree. The goal of this visit is to understand how cancer develops, and how we assess the patient‘s (and their family members’) risk for different types of cancer. A genetic counselor will provide extensive information regarding genetic testing and will review different testing options and potential results. The counselor will also discuss the cost of testing, insurance coverage and legal protections from genetic discrimination, as well as the implications of both positive and negative test results. The counselor will a patient and their family may have about genetic testing.
When you come for a consult with one of NHCI’s certified genetic counselors, it helps to come prepared. Helpful information to know before your appointment:
If a patient decides to proceed with a genetic testing, our staff will coordinate the testing process including the sample draw (most likely a simple saliva sample) and insurance coverage.
Patients are seen in-person for their results. During the follow-up visit, the genetic counselor will review the results to help patients understand the implications themselves and their family. The counselor will also review preventive and treatment options that may help families reduce their risk of cancer based on their test results. Even when a person tests negative for genetic mutations, they still may have a higher than average risk of cancer due to family history and some increased screening options may be available to them. All of that is reviewed during a results session with doctors and other specialists to ensure that they receive the testing results and that all of the patient’s questions are answered.
Patients who wish to begin collecting their family history information might find the following tool to be helpful: My Family Health Portrait - A tool from the Surgeon.
Most insurance companies will cover the cost of both genetic counseling and genetic testing. When patients call to make their initial appointments, we provide detailed information on how to determine coverage for their visit so they feel comfortable making an appointment.
Some people worry that their insurance company may discriminate because of a genetic test result; however, there have been very few documented cases of insurance discrimination and there are both State and Federal laws in place to protect individuals from such discrimination.
Patients with a personal or family history of the following types of cancer are most often considered for a genetics evaluation:
It is important to remember that only about 5-10 percent of cancers are inherited so most often any of these diagnoses above are not due to an inherited risk.
The Cancer Genetics Program has multiple locations available for patients to meet with our genetic counselors. Our goal is to bring genetics services to patients living throughout Georgia, especially those in geographic areas with limited cancer genetic service available. In addition to in-person consults, we offer telegenetics consults at multiple medical oncology locations across Georgia