Download ppt - Hereditary Breast & Ovarian Cancer Syndrome HBOC Tammy McKamie RN MSN OCN

Hereditary Breast & Ovarian Cancer

Syndrome HBOC

Tammy McKamie RN MSN OCNTammy McKamie RN MSN OCN

Cancer 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 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

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)


SyndromesMultiple family members with the same cancer

Breast/ovarianColon/Endometrial

Melanoma/pancreatic


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

7878

Cervical 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%


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%


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