If you test positive for an inherited genetic mutation, you may face some complicated feelings: anxiety, anger, sadness or depression, concerns over possible insurance discrimination, strained family relationships over learning of a familial genetic mutation, difficult decisions about preventive measures that have long-term consequences, and feelings of inevitability that you’ll get cancer. However, knowledge is power. Your genetic counselor will provide options involving prevention measures, which can decrease your likelihood of developing cancer, and your healthcare professionals can now tailor your care, since carrying the genetic mutation may alter the way you are treated. It’s also important to note that scientists are currently researching BRCA mutations, and much progress has been recently made with treatment therapies.
Your genetic counselor can help you work through your feelings and provide you and your family support throughout this process.
How you prepare for genetic testing
The first step in the BRCA gene testing process is to meet with a genetic counselor. As soon as you consider having any genetic test, meet with a genetic counselor to determine whether it’s appropriate for you and to discuss the potential risks, limitations and benefits of undergoing genetic testing. It’s best to go through your primary care doctor to be tested, but you can also go through a direct to consumer company, like Color: https://home.color.com/sign-in?next=%2F&redirectTime=1656354139300
The genetic counselor takes a detailed family and medical history, assesses your risk of developing cancer, discusses risks and benefits of genetic testing, and outlines your options.
To prepare for your meeting with a genetic counselor:
Here are some things you can do to prepare: Gather information about your family’s medical history, especially that of close relatives, document your personal medical history, including collecting records from specialists or results of previous genetic testing, if available. Write down questions for the counselor, or consider having a friend or family member accompany you to help ask questions or take notes.
If you decide to have BRCA genetic testing, prepare yourself for the emotional and social implications that learning your genetic status might have. Test results could also fail to provide you with clear-cut answers regarding your cancer risk, so prepare to face that possibility, too.
What you can expect
The BRCA gene test is most often a blood test. A doctor, nurse or medical technician inserts a needle into a vein, usually in your arm, to draw the blood sample needed for testing. The sample is sent to a lab for DNA analysis.
In some cases, other sample types are collected for DNA analysis, including saliva. If you have a family history of cancer and are interested in pursuing a saliva DNA test, discuss this with your doctor. He or she can refer you to a genetic counselor who can determine the most appropriate sample type for genetic testing.
It may take a few weeks before test results are available. You meet with your genetic counselor to learn your test results, discuss their implications and go over your options.
Your test results may be positive, negative, or uncertain.
Positive test result
A “positive” test result means that you have a mutation in one of the breast cancer genes, BRCA1 or BRCA2, and therefore a higher risk of developing cancer compared with someone who does not have the mutation. But a positive result does not mean you are certain to develop cancer.
Follow-up care after a positive test result might include taking specific measures to modify the type and frequency of screening for cancer and to consider procedures and medications designed to reduce your cancer risk. What you choose to do depends on many factors — including your age, medical history, prior treatments, past surgeries, and personal preferences.
Negative or uncertain test result
A “negative” test result means that no BRCA gene mutation was found. However, assessing your cancer risk is still difficult. The test result is considered a “true negative” only if it finds that you do not carry a specific BRCA mutation that’s already been identified in a relative.
A negative test result does not mean you definitely won’t get cancer. You still have the same cancer risk as that of the general population.
An ambiguous result, also known as a “variant of uncertain significance”, occurs when the analysis finds a genetic variant that may or may not be associated with an increased risk of cancer. It is helpful to meet with your genetic counselor to understand how to interpret this finding and decide on appropriate follow-up.
New models are being developed to help determine risk of cancer with ambiguous results. Most variants of uncertain significance are eventually reclassified into either a positive or negative result. To be informed when this happens, stay in touch with the doctor or genetic counselor who ordered your genetic test.
Although the BRCA gene test can detect the majority of mutations in the BRCA1 and BRCA2 genes, you could have a gene mutation that the test was not able to detect. Or you may be at high risk of hereditary cancer if your family carries a high-risk gene mutation that researchers haven’t yet identified. Finally, your family may have another hereditary cancer gene mutation that can be detected with other genetic tests.
Researchers are continuing to study gene mutations that increase the risk of cancer and developing new gene tests. If your gene test was done more than five years ago, your doctor might recommend testing again with newer tests. If your family health history changes, such as if additional family members develop cancer, your doctor might also recommend additional gene testing.
Preimplantation Genetic Testing
What is preimplantation genetic diagnosis (PGD)?
PGD involves testing an embryo before it implants for a specific, known genetic disorder. PGD is used so that embryos unaffected by the disorder can be returned to the uterus.
Guidelines for Genetic Counseling:
The National Comprehensive Cancer Network® (NCCN®) is a not-for-profit alliance of 32 leading cancer centers devoted to patient care, research, and education. NCCN is dedicated to improving and facilitating quality, effective, equitable, and accessible cancer care so all patients can live better lives. Through the leadership and expertise of clinical professionals at NCCN Member Institutions, NCCN develops resources that present valuable information to the numerous stakeholders in the health care delivery system. By defining and advancing high-quality cancer care, NCCN promotes the importance of continuous quality improvement and recognizes the significance of creating clinical practice guidelines appropriate for use by patients, clinicians, and other health care decision-makers around the world.
Find a Genetic Counselor
The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects individuals from genetic discrimination in health insurance and employment. Genetic discrimination is the misuse of genetic information. To summarize:
GINA and Employment – It is against the law for an employer to use family health history against you, and to make decisions about your employment.
GINA and Health Insurance– It is against the law for an employer to use genetic test results against you, and to make decisions about your employment.
Gina does not cover life, disability insurance, or long-term insurance, and does not apply to employers <15 employees, nor military.