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Hereditary Breast & Ovarian Cancer Syndrome HBOC Tammy McKamie RN MSN OCN Cancer Genetics Educator Clinical Oncology Patient Navigator
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.
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
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
Genetic Testing Available: • Breast Cancer • Ovarian Cancer • Colorectal Cancer • Endometrial (uterine) Cancer • Melanoma
Hereditary Breast & Ovarian Cancers 90% 7-10% Sporadic Hereditary
Cells have Two Copies of Each Chromosome Father Mother x Y x
BRCA2 MSH1 EPCAM2 BRCA1 PMS2 MSH6 APC p16 MLH2 TUMOR SUPPRESSOR GENES x
1 normal gene 1 damaged gene 1 normal gene 1 damaged gene 2 damaged genes 2 damaged genes 2 normal genes Tumor develops Tumor develops In hereditary cancer, one damaged gene is inherited. Cancer arises when both copies of tumor suppressor genes are inactivated
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
Father with mutation on one chromosome Autosomal Dominant Inheritance Each child has a 50% chance of inheriting an Autosomal Dominant disorder
RED FLAGSFor Hereditary Cancer Syndromes Young age of cancer (<50) in patient or family Breast Colon Endometrial (uterine)
RED FLAGSFor Hereditary Cancer Syndromes Multiple family members with the same cancer Breast/ovarian Colon/Endometrial Melanoma/pancreatic
RED FLAGSFor Hereditary Cancer Syndromes Rare cancers in patient or family Ovarian cancer any age Male breast cancer Individuals with multiple primary cancers
Signs of Sporadic Cancer d. 70 heart d. 65 Prostate ca dx 59 d. 80 heart d. 76 COPD 76 75 70 78 Cervical ca dx 56 76 70 Lung ca dx 60 58 49 56 Breast ca dx 57
Signs of Hereditary Cancer Syndromes 86 d. 70 heart d. 56 Ovarian d. 80 heart 76 75 70 78 77 70 Ovarian ca dx 62 58 49 56 breast ca dx 48
Population Risk 0.5% 2% 7% 10%- 20% Hereditary Risk BRCA 1or 2 Mutations Increase the Risk of Early Onset Breast Cancer By age 40 By age 50 By age 70 56%- 87% 33%-50%
HereditaryRisk ~ 44% (BRCA1) ~27% (BRCA2) Population Risk 1-2% BRCA 1 or 2 Mutations Increase the Risk of Ovarian Cancer By age 70
Surveillance Chemoprevention Prophylactic surgery *Individual risk reduction may vary based on personal health history Managing Hereditary Cancer RiskImproved outcomes with proven medical interventions* JAMA 2000;283:617-24
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!
Chemoprevention • Tamoxifeneffective in prevention of contralateral breast cancer Reducing the risk up to 49% NCCN Practice Guidelines in Oncology-v.1.2008 HBOC
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
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
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
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
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) PROGenetic Discrimination Myth versus Reality
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% PROInsurance Coverage of Genetic Testing
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 CONS & SOLUTIONS
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
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
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.
References • http://www.nursingworld.org/MainMenuCategories/EthicsStandards/Genetics1.aspx • Essential Competencies • Professional Responsibilities OR • http://www.genome.gov/Glossary The Talking Dictionary developed by The National Human Genome Research Institute (NHGRI)
Sporadic or Hereditary ? 75 d. 56 Prostate ca d. 70 heart d.36 MVA breast ca dx 49 72 70 75 78 75 70 Leukemia dx 68 breast ca dx 49 58 49 56 Ovarian ca dx 58