Genetic testing for BRCA1 and BRCA2 genes
Cathy R. Kessenich PhD, ARNP
Kathryn Bacher RN, BSN
Patricia A. Moore RN, MSN, ARNP

The Nurse Practitioner: The American Journal of Primary Health Care
June 2014 
Volume 39  Number 6
Pages 8 - 10
  PDF Version Available!

Mrs. R is a healthy 53-year-old female. She is married with two daughters and is of Ashkenazi Jewish descent. She sees her nurse practitioner (NP) for her annual exam and screenings. During the visit, she asks the NP about genetic testing for breast cancer. She recently read about genetic testing and has done some research online. She is concerned because her mother was diagnosed with breast cancer at age 32 and is deceased. Additionally, her maternal grandmother died from ovarian cancer at age 50.The NP explains to Mrs. R that based on her family history and her Ashkenazi Jewish descent, she is a candidate for BRCA1 and BRCA2 genetic testing. The NP further explains that knowing if there is a mutation helps Mrs. R and her healthcare providers to stratify her risk of developing breast or ovarian cancer. The decision to undergo genetic testing rests with the patient, but it is important for NPs to provide all the options for screening and management available so an informed decision can be made.The NP also explains that there are federal laws in place that protect her genetic information and privacy and that her test results will only be shared with healthcare providers involved in her circle of care. The Genetic Information Nondiscrimination Act established significant protections against genetic discrimination by employers and health insurers. This act prohibits health insurance carriers from denying coverage because an individual took or refused to take a genetic test or from denying coverage based on test results. It also prohibits employers from using this information as the basis for employment decisions.1It is important for patients to be aware that, at this time, there are no special protections against the use of genetic information to inform the provision of life insurance, disability insurance, or long-term care.The purpose of the article is to describe genetic testing for breast cancer. Genetic testing for many diseases is becoming more readily available.

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