Genetic Testing for Breast Cancer: Implications for Patients and Families

Transcription

1 Genetic Testing for Breast Cancer: Implications for Patients and Families Jennifer Hopper, MS, LGC Licensed Genetic Counselor The Hereditary Cancer Program Cincinnati Children s Hospital Medical Center

2 Goals Review the purpose of cancer genetic counseling Highlight the genetic testing options for hereditary cancer Discuss the implications of testing for both the patient and family members

3 What is Cancer Genetic Counseling? The goal of cancer genetic counseling is to evaluate an individual s personal and family history for risk factors that suggest an increased likelihood of inherited cancers.

4 What Happens at an Appointment? Take a medical history Draw out the family history Provide risk assessment based on personal/family history Make recommendations for testing Discuss possible results and management Review testing logistics Have blood drawn and submit testing

5 Risk Factors for Hereditary Breast Cancer Cancer in 3 or more close relatives (on the same side of family) Early age at diagnosis (under 50) Multiple primary tumors Bilateral or multiple rare cancers Combination of tumors consistent with specific cancer syndrome (eg, breast and ovary) Multiple generations in the family affected with cancer

6 Testing for Hereditary Breast Cancer BRCA1 and BRCA2 genes Increased risks for breast, ovarian, prostate, pancreatic and melanoma cancers Accounts for about 50% of hereditary breast cancer Well established screening recommendations

7 Testing for Hereditary Breast Cancer Multi-Gene Breast Panels Designed to evaluate for hereditary cancer risk by testing multiple genes at the same time BRCA1 and BRCA2 are always included in these tests Other genes tested carry increased risks for breast cancer Many testing options, depending on personal and family history Screening recommendations can be made for some of these additional genes

8 Testing FAQ s Will my insurance cover the test? The laboratory that completes the testing will perform a pre-authorization with your insurance company. How is the test done? Blood draw or saliva sample How long does it take to get results? 2-4 weeks, depending on which test is done

9 What are the Benefits of Genetic Testing? Help determine if you are at risk for cancers other than breast cancer Based on test results, your healthcare team can develop a screening approach for you You can give this information to your family members, and help them understand their cancer risks

10 Things to Consider Before Testing Depending on your result, it may be recommended to you to have a risk-reducing surgery or additional cancer screening Your test result, even if positive, may not change your management A negative test result does not mean that your cancer risks go away Your test results can impact your family members

11 Case Example Joan is a 42 year old woman who was just diagnosed with cancer in her left breast. She has a family history of breast cancer in her mother, dx. 48 and maternal aunt, dx. 50. Joan is trying to decide what surgery she should have for her breast cancer. Her breast surgeon recommended that she have genetic testing done first.

12 Family History dx. 48 dx dx

13 What Happens if I Test Positive? Joan has a BRCA2 mutation She now has increased cancer risks 2 nd breast cancer: 50% Ovarian cancer: 27% Risk reducing options for breast cancer Annual mammogram and breast MRI Bilateral mastectomy Risk reducing options for ovarian cancer Removal of ovaries and fallopian tubes

14 What Happens if I Test Positive? Joan s family members are at risk to carry this BRCA2 mutation Daughter Son 2 sisters Parents Family members can be tested for this known mutation

15 Dominant Inheritance

16 Family History dx. 48 dx dx

17 I Tested Negative Now What? Screening is based on family history Joan does not need screening for any additional cancers outside of breast cancer Close female relatives should have breast screening starting at age 32, based on Joan s diagnosis Always check back in with genetics for any updates!

18 Summary Patients with risk factors for hereditary breast cancer should be evaluated for genetic testing There are several genes related to hereditary breast cancer, and may carry risks for additional cancers Genetic testing can affect medical management for patients Family members may also be impacted by a patient s genetic test result

19 The Hereditary Cancer Program Jennifer Hopper, MS, LGC Rebecca Sisson, MS, LGC Kimberly Widmeyer, MS, LGC Janet Basil, MS, LGC Danielle Rolfes Administrative Assistant Need an appointment? Referrals are helpful, but not a requirement!

20 Thank You! Questions??