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

Embed Size (px)


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. - PowerPoint PPT Presentation

Text of Hereditary Breast & Ovarian Cancer Syndrome HBOC Tammy McKamie RN MSN OCN Cancer Genetics Educator...

  • Hereditary Breast & Ovarian Cancer Syndrome HBOC

    Tammy McKamie RN MSN OCNCancer Genetics EducatorClinical Oncology Patient Navigator

  • ObjectivesUnderstand the application of genetics in the nursing assessment.

    Identify risk factors (red flags) that potentially increase a persons 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 ProjectBegan in 1990,

    A 13-year Project

    Coordinated by the U.S. Department of Energy and the National Institutes of Health.

  • Genetic Testing Available:Breast Cancer

    Ovarian Cancer

    Colorectal Cancer

    Endometrial (uterine) Cancer


  • Hereditary Breast & Ovarian Cancers90%Sporadic7-10%Hereditary

  • Cells have Two Copies of Each ChromosomexFatherMotherYx

  • Childx


  • Cancer arises when both copies of tumor suppressor genes are inactivated

  • Sporadic vs Inherited Sporadic No clear pattern of inheritanceCommon types of cancer diagnosed @ standard ages > 50 y/o

    Inherited Multiple generations affected with same type of cancerDiagnosed @ young age < 50 y/o

  • Each child has a 50% chance of inheriting an Autosomal Dominant disorderAutosomal Dominant Inheritance

  • RED FLAGS For Hereditary Cancer Syndromes

    Young age of cancer (

  • RED FLAGS For Hereditary Cancer SyndromesMultiple family members with the same cancer


  • RED FLAGS For Hereditary Cancer SyndromesRare cancers in patient or family

    Ovarian cancer any ageMale breast cancer

    Individuals with multiple primary cancers

  • Lung cadx 60 70Breast cadx 57 70

    d. 70 heart 78Cervical ca dx 56

    d. 80 heart75Signs of Sporadic Cancer 56





    d. 65 Prostate ca dx 59

    d. 76 COPD

  • Ovarian ca dx 62 70breast cadx 48 70

    d. 70 heart78

    d. 80 heart75Signs of Hereditary Cancer Syndromes 56




    d. 56 Ovarian77


  • BRCA 1or 2 Mutations Increase the Risk of Early Onset Breast CancerBy age 70By age 50By age 4056%-87%33%-50%

  • BRCA 1 or 2 Mutations Increase the Risk of Ovarian Cancer By age 70

  • Managing Hereditary Cancer Risk

    Improved outcomes with proven medical interventions*Surveillance


    Prophylactic surgery

    *Individual risk reduction may vary based on personal health history

    JAMA 2000;283:617-24

  • SurveillanceMonthly 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


  • Chemoprevention

    Tamoxifen effective in prevention of contralateral breast cancerReducing the risk up to 49%

    NCCN Practice Guidelines in Oncology-v.1.2008 HBOC

  • Prophylactic Surgery

    Bilateral MastectomyReducing the risk by 90%

    Bilateral OophorectomyReducing 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 Increases15% (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 mutationDid not inherit cancer risks

    General population screening guidelines

    Avoid unnecessary screening and possibly surgeryPROIdentification of Family Members Not at Risk

  • PROGenetic 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 (National Conference of State Legislature)

  • PRO Insurance Coverage of Genetic TestingMost insurers provide coverage for genetic testing On average, a patient will pay $300 or less out-of-pocket

    Established guidelines meeting criteriaMedicare pays 100% Most major carriersMyriads Indigent Program pays 100%

  • CONS & SOLUTIONSCost --Genetic Testing Screenings Surgery

    Lack of Genetic Educators & Counselors

    Lack of availability of Testing

    Fear of Discrimination Feeling of Guilt Assistance ProgramsFree or reduced Screenings

    Educate nurses working in High Risk areas to Identify Pts

    On line list of available sitesFree Kits

    Reassurance & providing copies of Federal & State Laws


  • Nursing ResponsibilitiesThe 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.

  • NURSING IMPLICATIONS- ResearchSupport Advocate Participate

    EducationPlan and push for genetic content integration

    Ensure nursing guidelines have incorporated ethical principles regarding genetic information

    Develop appropriate clinical application of genetic technology

    SocialDefine 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 Essential CompetenciesProfessional Responsibilities OR The Talking Dictionary developed by The National Human Genome Research Institute (NHGRI)

  • Ovarian ca dx 58 70breast cadx 49 70

    d. 70 heart78

    d.36 MVA75Sporadic or Hereditary ? 56




    d. 56 Prostate ca75

    breast ca dx 4975

    Leukemia dx 68

  • Knowledge is Power & Hope

    *Slide 1: Hereditary Risk of Breast and Ovarian CancerThis slide set is designed for educational presentations about hereditary breast and ovarian cancer to audiences of health care professionals as well as the community. It contains 40 slides and suggested speakers notes. These materials are provided as an educational service by Myriad Genetic Laboratories of Salt Lake City, UT.Thirty slides in this set are designed to comprise a core presentation for a professional audience and twenty-three slides comprise a core presentation to a community audience, as indicated in the accompanying notes. Additional slides are indicated as supplemental. The core presentation for a professional audience would consist of slides 1-2, 5, 8-12, 15-25, 27-33 and 37-40. The core community presentation would consist of slides 1-5, 7-12, 15-19, 27-28, 32 and 37-40. Although the order of the slides in this set represents one possible way of organizing a presentation, the slides have also been designed to "stand alone" so that they can be placed in any order or combined with other slides you may wish to use. Your local Myriad Genetic Laboratories representative can provide a reprint of many of the articles referenced in this slide set and notes.These slides and text were updated in September of 2001. We welcome your comments on these slides and the accompanying notes. You can contact us by email to slide for a health care professional presentationCore slide for a community presentation

    *A genome is all the DNA in an organism, including its genes. Genes carry information for making all the proteins required by all organisms. These protei