Q & A
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If my mother has had breast cancer and is BRCA positive, what are my chances of inheriting this gene mutation?
You inherit 50% or your genes from your mother and 50% of your genes from your father, therefore giving you a 50:50 chance of carrying a BRCA gene mutation. However, if there is a family history of breast cancer on your father’s side of the family, it will be difficult to tell whether you inherited the genetic mutation from your mother or father, especially is your father tests BRCA positive.

Am I a candidate for genetic testing?
Recently the US Preventive Services Task Force made recommendations for genetic testing. They recommended that only people with a strong family history should be evaluated. Women who are NOT of Ashkenazi (Eastern European) Jewish heritage should be referred for genetic evaluation if they have:

• Two first-degree relatives with breast cancer, one of whom was diagnosed when they were younger than 50, or
  
• Three or more first or second degree relatives diagnosed with breast cancer at any age, or
  
• A first degree relative diagnosed with cancer in both breasts, or
  
• Two or more first or second degree relatives diagnosed at any age, or
  
• A male relative with breast cancer

Women of Ashkenazi (Eastern European) Jewish heritage should be referred for genetic evaluation if they have:

• A first degree relative with breast or ovarian cancer at any age or
  
• Two second degree relatives on the same side of the family with breast or ovarian cancer at any age.

Should I file the cost of genetic testing through my insurance company or pay for it out-of-pocket?
If you file the cost of genetic testing with your insurance company, the results will be placed in the patient’s records and my have serious implications. First of all, the insurance company will have a record of the test being administered. Secondly, when applying for medical, life or disability insurance, you might be asked to sign a form giving the insurance company access to your medical records. Knowledge of this information could affect the decisions regarding your coverage. Employers also may have the right to look at your medical records. Placing test results in your medical records does not guarantee their privacy.

Another option to consider is self-paying for the genetic testing thereby not involving the insurance company. However, it is imperative that you tell your genetic counselor or person administering the test that the information is to be kept strictly confidential and not included in your medical records.

What is genetic discrimination and are there any laws to protect people?
Genetic discrimination takes place when people receive different treatment from their insurance company or employer due to a gene alteration that increases their risk of a disease, such as breast or ovarian cancer. A positive genetic test can affect a person’s insurance, especially their health insurance. That person can be denied coverage for medical expenses related to their genetic condition, dropped from their current insurance plan or denied new insurance coverage. Some insurance companies view the person as a potential monetary risk due to the increased likelihood of becoming a cancer patient in the future.

There is some protection for people with employer-based health insurance through The Health Insurance Portability and Accountability (HIPAA) of 1996. prohibits group health plans from denying coverage based on genetic information if the person does not currently have a disease. It is important to remember that this Act does not prohibit employers from refusing to offer health insurance as part of their benefit package, or prevent insurance companies from requesting genetic information.

In 2000, the HIPAA National Standards to Protect Patients’ Personnel Medical Records was released as the first comprehensive Federal protection for the privacy of health information. However, the standards are not specific to genetic information.

In the workplace, if an employer finds out that an employee has tested positive for a BRCA1 or BRCA2 gene mutation, that person may experience genetic discrimination. There are currently no laws specific to genetic nondiscrimination. The Americans with Disabilities Act of 1990 does provide limited protection and in 1995, the Equal Employment Opportunity Commission included individuals with higher risks due to genetic disorders as part of their definition of “disabled.” However, this protection has not yet been tested in the courts.

States differ regarding their degree of discrimination protection. Before proceeding with genetic testing, it would be beneficial to check the laws of your state.

On Thursday, April 25, 2008, GINA- the Genetic Information Nondiscrimination Act – which would make it illegal to discriminate based on genetic information, was unanimously passed in the Senate 95-0. This act has been stalled in political debates for several years now. The bill quickly also was approved by the House and signed by the President, which is a huge step in the right direction towards ensuring women who wish to undergo genetic testing feel empowered to pursue this option.

If I have gone through genetic testing and do not have the BRCA1 or BRCA2 gene, can I still get breast or ovarian cancer?
Absolutely! Only around 5-10% of breast cancer cases are considered "hereditary." However, Breast cancer is the most common type of cancer among women in the United States. Therefore, even though your risk level may not be as heightened as someone who possesses one or both of the genes, you are still technically at risk. If you have a strong family history, make sure to continue to visit your health care professionals frequently and develop a strong surveillance plan. This regimen should also apply to any young women who have family members that were diagnosed with breast or ovarian cancer at a young age (below 45), as they are also considered "high risk." Regardless of family history, every young woman, beginning at the age of 20 years old, should do a Breast Self Exam each month. To learn how to correctly perform this life-saving exam, visit http://cms.komen.org/komen/AboutBreastCancer/EarlyDetectionScreening/BreastSelf-Exam/index.htm.

What are the signs of breast cancer?
The signs of breast cancer are not the same for all women. In fact, some women have no signs that they can see. If you experience any of these symptoms, you should see a doctor right away:

• A lump, hard knot or thickening
  
• Swelling, warmth, redness or darkening
  
• Change in breast size or shape
  
• Dimpling or puckering of the skin
  
• Itchy, scaly sore or rash on the nipple
  
• Pulling in of your nipple or other parts of the breast
  
• Nipple discharge that starts suddenly
  
• New pain in one spot
  

What are the signs of ovarian cancer?

Women who suddenly start to experience any of these symptoms repeatedly for several weeks would be considered at risk of ovarian cancer under the new index and should contact their doctors:

• Pelvic pain
  
• Abdominal pain
  
• Increased abdominal size
  
• Bloating
  
• Difficulty eating
  
• Feeling full

Sources: National Cancer Institute, 2007; Susan G. Komen for the Cure, 2007; American Cancer Society, 2007.