Health Matters Blog

Genetic Risk Assessment

Genetic Risk Assessment

by Agnes Mikijaniec

There have been great strides in the field of cancer genetics this past decade. It is now considered the standard of care in community and comprehensive cancer programs. However many individuals who would be appropriate for genetic risk assessment are not being tested. Barriers include distance to regional cancer programs, lack of insurance and lack of knowledge. City of Hope (COH) Cancer Center, a regional cancer in California and leader in cancer genetics, is working to improve outreach and access to genetic counseling. COH has received a National Cancer Institute grant to provide cancer genetics training to community cancer providers in rural and underserved areas.

Agnes MikijaniecIn the Spring of 2010, as the nurse practitioner for BMH’s Oncology Department, I was one of the 20 cancer providers in the nation selected to participate in the COH Cancer Genetics Outreach Program. These providers were trained to obtain family histories, calculate risk for genetic dispositions to cancer, and then provide counseling regarding their risk. City of Hope continues training and support through participation in their weekly online genetics case reviews and lectures. This allows rural cancer providers continued access to experts in genetics to assist with complex cases and maintain competency in this specialty. The BMH Comprehensive Breast Care Program plans to introduce genetic risk assessment for hereditary breast and ovarian cancer with Dr Joseph Rosen, the medical director of the program. BMH Oncology’s affiliate, Norris Cotton Cancer Center currently offers genetic testing for all cancer risks through their Familial Cancer Program.

Because of the media’s focus on breast cancer and direct-to-consumer advertising, more Americans are learning of the genetic links to breast cancer. Many individuals, however, are unclear on how their own personal or family history relates to genetic risk for cancer.

About 5% of cancers are considered hereditary. Hereditary cancers develop because of a change (mutation) in certain genes that normally protect the body from cancer (tumor suppressor genes). These gene mutations can be passed from one generation to the next. Genetic cancer risk can be passed from mothers or fathers to daughters or sons. For some cancer genes the risk is linked to more than one cancer. For example, the hereditary breast cancer syndrome also causes increased risk for ovarian cancer.

Signs of hereditary breast-ovarian cancer syndrome may include, but are not limited to :

  • Breast cancer at age 45 or younger,
  • Breast cancer in both breasts,
  • Both breast and ovarian cancer in the same woman,
  • Two or more people within a family with ovarian cancer and/or breast cancer, especially if the breast cancer was diagnosed before age 50,
  • At least one family member with breast and ovarian cancer,
  • Breast cancer in men,
  • Ashkenazi Jewish heritage and ovarian cancer at any age or breast cancer before age 60.

 

The two genes commonly associated with breast and ovarian cancer are BRCA 1 and BRCA 2. A female without any increased risk for breast cancer has a 12% chance of developing breast cancer during her lifetime. An individual with a BRCA 1 or BRCA 2 mutation can have a 50 to 85% lifetime risk of developing breast cancer, and a 20 to 40% lifetime risk of developing ovarian cancer. Testing for the BRCA 1 or 2 genes is performed by a blood test or oral swab. A positive test means an individual has an increased risk for developing cancer, but it does not mean the person will definitely get cancer. A negative gene test does not mean a person will never develop cancer. If one does test positive for the BRCA gene there are a number of options for decreasing the risk of developing cancer. A specialist in cancer genetics – cancer genetic counselor, geneticist, or risk assessment counselor – can help guide the individual through the process of discerning cancer risk and the benefits and drawbacks of genetic testing.

Agnes Mikijaniec, ARNP, is an oncology nurse specialist in BMH Cancer Care Services. She can be reached at 802-257-8221.

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