1. Hereditary Breast & Ovarian Cancer Syndrome HBOC Tammy McKamie RN MSN OCN Cancer Genetics Educator Clinical Oncology Patient Navigator

2. Objectives Understand the application of genetics in the nursing assessment. Identify risk factors (red flags) that potentially increase a person’s risk for hereditary cancer. Differentiate between sporadic and inherited cancer. Summarize surveillance and medical management options for individuals and families based on possible genetic testing outcomes.

3. Objectives Analyze the impact of genetic conditions on patients and their families. Discuss the ethical, legal, and social issues involving genetic education and testing. Evaluate the pros and cons of genetic testing

4. Human Genome Project Began in 1990, A 13-year Project Coordinated by the U.S. Department of Energy and the National Institutes of Health. http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml

5. Genetic Testing Available: Breast Cancer Ovarian Cancer Colorectal Cancer Endometrial (uterine) Cancer Melanoma

6. Hereditary Breast & Ovarian Cancers 90% Sporadic 7-10% Hereditary

7. Cells have Two Copies of Each Chromosome x FatherMother Y x

8. Child x

9. BRCA2BRCA1 MLH2 MSH1 TUMOR SUPPRESSOR GENES APC APC PMS2 PMS2 x p16 p16 EPCAM2 EPCAM2 MSH6

10. Cancer arises when both copies of tumor suppressor genes are inactivated 1 normal gene 1 damaged gene Tumordevelops 2 normal genes genes 2 damaged 2 damaged genes genes In hereditary cancer, one damaged gene is inherited. 1 normal gene 1 damaged gene Tumordevelops 2 damaged 2 damaged genes genes

11. Sporadic vs Inherited Sporadic – No clear pattern of inheritance Common types of cancer diagnosed @ standard ages > 50 y/o Inherited – Multiple generations affected with same type of cancer Diagnosed @ young age < 50 y/o

12. Each child has a 50% chance of inheriting an Autosomal Dominant disorder Father with mutation on onechromosome Autosomal Dominant Inheritance

13. RED FLAGS For Hereditary Cancer Syndromes Young age of cancer (<50) in patient or family Breast Colon Endometrial (uterine)

14. RED FLAGS For Hereditary Cancer Syndromes Multiple family members with the same cancer Breast/ovarian Colon/Endometrial Melanoma/pancreatic

15. RED FLAGS For Hereditary Cancer Syndromes Rare cancers in patient or family Ovarian cancer any age Male breast cancer Individuals with multiple primary cancers

16. Lung ca dx 60 70 Breast ca dx 57 70 d. 70 heart 78 78 Cervical ca dx 56 d. 80 heart 75 Signs of Sporadic Cancer56 4958 76 76 d. 65 Prostate ca dx 59 d. 76 COPD

17. Ovarian ca dx 62 70 breast ca dx 48 70 d. 70 heart 78 d. 80 heart 75 Signs of Hereditary Cancer Syndromes56 4958 76 d. 56 Ovarian 77 86

18. BRCA 1or 2 Mutations Increase the Risk of Early Onset Breast Cancer By age 70 By age 50 By age 40 56%-87% 33%- 50% Hereditary Hereditary Risk Risk 10%- 10%- 20% 20% Population Population Risk Risk7% 2% 0.5%

19. BRCA 1 or 2 Mutations Increase the Risk of Ovarian Cancer By age 70 By age 70 Population Risk 1-2% Hereditary Risk ~ 44% (BRCA1) ~ 27% (BRCA2)

20. Managing Hereditary Cancer Risk Improved outcomes with proven medical interventions * Surveillance Chemoprevention Prophylactic surgery *Individual risk reduction may vary based on personal health history JAMA 2000;283:617-24

21. Surveillance Monthly Self-Breast Exams starting @ 18y Clinical Breast Exam, Semiannually, starting @ 25yrs Annual Mammogram & Breast MRI (Breast Coil) starting @ 25 yrs Trans-vaginal US every 6 months Serum CA-125 every 6 months NCCN Practice Guidelines in Oncology-v.1.2008 HBOC EARLY DETECTION IS THE KEY!

22. Chemoprevention Tamoxifen effective in prevention of contralateral breast cancer Reducing the risk up to 49% NCCN Practice Guidelines in Oncology-v.1.2008 HBOC

23. Prophylactic Surgery Bilateral Mastectomy Reducing the risk by 90% Bilateral Oophorectomy Reducing the risk of Breast Cancer by 68% Reducing the risk of Ovarian Cancer by 96% NCCN Practice Guidelines in Oncology-v.1.2008 HBOC

24. For Men Risk for Developing Breast Cancer Increases 1% (general Pop) to 7% Risk for Developing Prostate Cancer Increases 15% (general Pop) to 20% NCCN Practice Guidelines in Oncology-v.1.2008 HBOC / b.2.2007 PCED

25. For Men Monthly Breast self-exams Semi-annual Clinical Breast exam Consider baseline Mammogram PSA starting @ 40 y/o NCCN Practice Guidelines in Oncology-v.1.2008 HBOC / b.2.2007 PCED

26. Negative for known familial BRCA mutation –Did not inherit cancer risks General population screening guidelines Avoid unnecessary screening and possibly surgery PRO Identification of Family Members Not at Risk

27. PRO Genetic Discrimination Myth versus Reality Federal and state laws prohibit the use of genetic information as a ‘pre-existing condition’  Federal HIPAA & GINA (Genetic Information Nondiscrimination Act)  The majority of states have additional laws including Texas, Arkansas, Louisiana, & Oklahoma No documented cases of genetic discrimination http://www.ncsl.org (National Conference of State Legislature)

28. PRO Insurance Coverage of Genetic Testing Most insurers provide coverage for genetic testing –On average, a patient will pay $300 or less out-of-pocket Established guidelines meeting criteria –Medicare pays 100% –Most major carriers –Myriad’s Indigent Program pays 100%

29. CONS & SOLUTIONS Cost -- Genetic Testing → –↑ –↑ Screenings Surgery Lack of Genetic Educators & Counselors → Lack of availability of Testing → Fear of Discrimination → Feeling of Guilt → Assistance Programs –Free or reduced Screenings Educate nurses working in High Risk areas to Identify Pts On line list of available sites Free Kits Reassurance & providing copies of Federal & State Laws Education

30. Nursing Responsibilities The International Council of Nurses (ICN) Code of ethics for nurses states primary responsibility of nursing is to ensure that a patient receives adequate information on which to base care and treatment decisions. http://www.icn.ch/abouticn.htm

31. NURSING IMPLICATIONS- Research –Support – Advocate – Participate Education –Plan and push for genetic content integration –Ensure nursing guidelines have incorporated ethical principles regarding genetic information –Develop appropriate clinical application of genetic technology Social –Define and develop policies addressing ethical, legal, and social implications

32. NURSING IMPLICATIONS Ethical, Legal & Social Privacy and confidentiality of genetic information. Individuals own and control information, entitled to privacy. Misuse of genetic information. Who should have access and how it will be used? Stigmatization – Use of information to marginalize and discriminate based on persons genes.

33. References http://www.nursingworld.org/Main MenuCategories/EthicsStandards/Ge netics1.aspx Essential Competencies Professional Responsibilities OR http://www.genome.gov/Glossary The Talking Dictionary developed by The National Human Genome Research Institute (NHGRI)

34. Ovarian ca dx 58 70 breast ca dx 49 70 d. 70 heart 78 d. 36 MVA 75 Sporadic or Hereditary ? 56 4958 72 d. 56 Prostate ca 75 breast ca dx 49 75 Leukemia dx 68

35. Knowledge is Power & Hope