Hereditary Breast & Ovarian Cancer Syndrome HBOC Tammy McKamie RN MSN OCN Tammy McKamie RN MSN OCN Cancer Genetics Educator Cancer Genetics Educator Clinical Oncology Patient Navigator Clinical Oncology Patient Navigator
Feb 10, 2016
Hereditary Breast & Ovarian Cancer
Syndrome HBOC
Tammy McKamie RN MSN OCNTammy McKamie RN MSN OCNCancer Genetics EducatorCancer Genetics Educator
Clinical Oncology Patient NavigatorClinical 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%
SporadicSporadic
7-10%
HereditaryHereditary
Cells have Two Copies of Each Cells have Two Copies of Each ChromosomeChromosome
x
Father Mother
Y x
Child
x
BRCA2BRCA2 BRCA1BRCA1
MLH2MLH2MSH1MSH1
TUMOR SUPPRESSOR GENESTUMOR SUPPRESSOR GENES
APCAPC
PMS2PMS2
x
p16p16
EPCAM2EPCAM2
MSH6MSH6
Cancer arises when both copies of tumor suppressor genes are inactivated
1 normal gene1 normal gene1 damaged gene1 damaged gene
TumorTumordevelopsdevelops
2 normal 2 normal genesgenes
2 damaged 2 damaged genesgenes
In hereditary cancer, one damaged gene is inherited.
1 normal gene 1 normal gene 1 damaged gene1 damaged gene
TumorTumordevelopsdevelops
2 damaged 2 damaged genesgenes
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 cancer
Diagnosed @ young age < 50 y/o
Each child has a 50% chance of Each child has a 50% chance of inheriting an Autosomal Dominant inheriting an Autosomal Dominant
disorderdisorder
Father withFather withmutation on mutation on
one one chromosomechromosome
Autosomal Dominant Inheritance
RED FLAGS For Hereditary Cancer
Syndromes Young age of cancer (<50) in patient or family
BreastColon
Endometrial (uterine)
RED FLAGS For Hereditary Cancer
SyndromesMultiple family members with the same cancer
Breast/ovarianColon/Endometrial
Melanoma/pancreatic
RED FLAGS For Hereditary Cancer
Syndromes
Rare cancers in patient or family
Ovarian cancer any ageMale breast cancer
Individuals with multiple primary cancers
Lung cadx 60
7070
Breast cadx 57
7070
d. 70 heart
7878Cervical ca dx 56
d. 80 heart
7575
Signs of Sporadic Cancer
5656 49495858
76767676
d. 65 Prostate ca dx 59
d. 76 COPD
Ovarian ca
dx 62
7070
breast cadx 48
7070
d. 70 heart
7878
d. 80 heart
7575
Signs of Hereditary Cancer Syndromes
5656 49495858
7676
d. 56 Ovarian
7777
8686
BRCA 1or 2 Mutations Increase the Risk of Early Onset Breast Cancer
By age 70By age 70By age 50By age 50By age 40By age 40
56%-56%-87%87%
33%-33%-50%50%
Hereditary Hereditary RiskRisk
10%-10%- 20%20%
Population Population RiskRisk
7%7%2%2%0.5%0.5%
BRCA 1 or 2 Mutations Increase the Risk of Ovarian Cancer
By age 70By age 70
Population RiskPopulation Risk 1-2%1-2%HereditaryHereditary
RiskRisk~ 44% (~ 44% (BRCA1BRCA1))~~ 27% (27% (BRCA2BRCA2))
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
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
• Tamoxifen effective in prevention of contralateral breast cancer
Reducing 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 mutation–Did not inherit cancer risks
• General population screening guidelines
• Avoid unnecessary screening and possibly surgery
PROIdentification 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 http://www.ncsl.org (National Conference of State Legislature)
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%
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
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)
Ovarian ca dx 58
7070
breast cadx 49
7070
d. 70 heart
7878
d.36 MVA
7575
Sporadic or Hereditary ?
5656 49495858
7272
d. 56 Prostate ca
7575
breast ca dx 49
7575
Leukemia dx 68
Knowledge is Power & Hope