CANCER GENETIC
COUNSELING
NORTH DAKOTA CANCER COALITION
CANCER CONFERENCE
MAY 18, 2011
Marie Schuetzle, MS, CGC
Larissa Hansen, MS
Objectives
At the conclusion of this presentation, participants
should be able to
 Identify individuals at risk for hereditary cancer
 Understand the cancer genetic counseling process
 Recognize aspects of informed consent
 Be cognizant that medical management will be
addressed regardless of testing decisions
Genetic Counseling

Definition


Degree


Genetic counseling is the process of helping people
understand and adapt to the medical, psychological and
familial implications of genetic contributions to disease.
Master of Science or Master of Arts in Genetic Counseling
granted by a genetic counseling program accredited by the
American Board of Genetic Counseling (ABGC)
Certification

Board eligible or board certified by the American Board of
Medical Genetics (ABMG) and the American Board of
Genetic Counseling (ABGC)
http://www.nsgc.org/
National Guidelines
Indications for Genetic Evaluation





Early age of onset
Multiple primary cancers in one individual
Two + family members with the same or related
cancers
Rare cancer
Cancer diagnosis and high risk population
Clinical Guidelines
Genetic Counseling Process

Assess hereditary cancer risk
 No
hereditary pattern
 Suspicious of hereditary pattern, additional evaluation
needed
 Hereditary cancer syndrome, testing warranted



Offer testing when appropriate
Facilitate testing when desired
Provide recommendations
Risk Assessment






Personal history
Family history
Pathological findings
National diagnostic/testing criteria
Mutation risk models
Genetic test results
No Hereditary Pattern
Possible Cancer Syndrome
Tumor Testing Criteria
Revised Bethesda Guidelines
 CRC diagnosis in a patient under 50 years of age
 Presence of synchronous/metachronous HNPCCassociated tumors, regardless of age
 CRC with MSI-H histology diagnosed in a patient under
60 years of age
 CRC diagnosed in a patient with >1 first-degree relatives
with an HNPCC-associated cancer, with one of the cancers
diagnosed prior to age 50
 CRC diagnosed in a patient with >2 first- or seconddegree relatives with HNPCC-associated cancers,
regardless of age
Umar et al, 2004
Cancer Syndrome Diagnosed
Diagnostic Criteria





Amsterdam Criteria I
Three relatives with CRC, one is a first degree relative of the
other two
At least two successive generations affected
At least one of the relatives with CRC was diagnosed prior to
age 50
FAP is excluded
Tumors verified via pathologic examination
Amsterdam Criteria II
Same as above but insert “HNPCC-associated cancer (colorectal,
endometrial, small bowel, ureter, renal pelvis)” in place of CRC in
first and third bullets.
Vasen et al, 1991
Breast Cancer Example
Breast Cancer Example
First degree relative meeting national testing criteria:
 Diagnosed at any age with 2 or more close blood
relatives with breast or ovarian cancer diagnosed
at any age.
 Family member best to test.
www.nccn.org
Mutation Risk Models

BRCAPro


Myriad II


Bayesian calculation taking into account first and second
degree relatives with breast and ovarian cancer, as well as
those that are unaffected, tumor characteristics and
oophorectomy
Risks based on experiential data taking into account breast
and ovarian cancer in first and second degree relatives
University of Pennsylvania

Risks factored from 966 families with 2 or more members with
breast or ovarian cancer taking into account family history of
pancreatic, prostate and male breast cancer as well
Summary of Risk Estimates
Model
Mutation Risk
BRCAPro
4.6%
Myriad
2.6%
Penn II
21% patient
43% family
Breast Cancer Risk Models

Gail
Hormone history
 Breast cancer in first degree relatives
 Biopsy
 Race


Claus


Family history of breast cancer
Tyrer-Cuzick (IBIS)
Family history
 Hormone history
 AJ ancestry

Claus EB et al. Cancer 73:643,1994
Age
% Risk
59
15.7
69
22.6
79
27.4
Genetic Counseling Process

Assess Hereditary Cancer Risk
 No
Hereditary Pattern
 Suspicious of hereditary pattern, additional evaluation
needed
 Hereditary cancer syndrome, testing warranted



Offer testing when appropriate
Facilitate testing when desired
Provide Recommendations
Informed Consent
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
1. Information on the specific genetic mutation(s) or
genomic variant(s) being tested, including whether the
range of risk associated with the variant will impact
medical care
2. Implications of a positive and negative result
3. Possibility that the test will not be informative
4. Options for risk estimation without genetic or genomic
testing
5. Risk of passing a genetic variant to children
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
1. Information on the specific genetic mutation(s) or
genomic variant(s) being tested, including whether the
range of risk associated with the variant will impact
medical care
2. Implications of a positive and negative result
3. Possibility that the test will not be informative
4. Options for risk estimation without genetic or genomic
testing
5. Risk of passing a genetic variant to children
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
1. Information on the specific genetic mutation(s) or
genomic variant(s) being tested, including whether the
range of risk associated with the variant will impact
medical care
2. Implications of a positive and negative result
3. Possibility that the test will not be informative
4. Options for risk estimation without genetic or genomic
testing
5. Risk of passing a genetic variant to children
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
1. Information on the specific genetic mutation(s) or
genomic variant(s) being tested, including whether the
range of risk associated with the variant will impact
medical care
2. Implications of a positive and negative result
3. Possibility that the test will not be informative
4. Options for risk estimation without genetic or genomic
testing
5. Risk of passing a genetic variant to children
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
1. Information on the specific genetic mutation(s) or
genomic variant(s) being tested, including whether the
range of risk associated with the variant will impact
medical care
2. Implications of a positive and negative result
3. Possibility that the test will not be informative
4. Options for risk estimation without genetic or genomic
testing
5. Risk of passing a genetic variant to children
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
6. Technical accuracy of the test including, where required
by law, licensure of the testing laboratory
7. Fees involved in testing and counseling and, for DTC
testing, whether the counselor is employed by the
testing company
8. Psychological implications of test results (benefits and
risks)
9. Risks and protections against genetic discrimination by
employers or insurers
Abbreviation: DTC, direct to consumer.
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
6. Technical accuracy of the test including, where required
by law, licensure of the testing laboratory
7. Fees involved in testing and counseling and, for DTC
testing, whether the counselor is employed by the
testing company
8. Psychological implications of test results (benefits and
risks)
9. Risks and protections against genetic discrimination by
employers or insurers
Abbreviation: DTC, direct to consumer.
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
6. Technical accuracy of the test including, where required
by law, licensure of the testing laboratory
7. Fees involved in testing and counseling and, for DTC
testing, whether the counselor is employed by the
testing company
8. Psychological implications of test results (benefits and
risks)
9. Risks and protections against genetic discrimination by
employers or insurers
Abbreviation: DTC, direct to consumer.
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
6. Technical accuracy of the test including, where required
by law, licensure of the testing laboratory
7. Fees involved in testing and counseling and, for DTC
testing, whether the counselor is employed by the
testing company
8. Psychological implications of test results (benefits and
risks)
9. Risks and protections against genetic discrimination by
employers or insurers
Abbreviation: DTC, direct to consumer.
Modified from ASCO 2003 Statement
Genetic Information Nondiscrimination
Act (GINA)
GINA & Health Insurance
 Illegal for health insurers to request, require, or use
genetic information to make decisions about:
Your eligibility for health insurance
 Your health insurance premium, contribution amounts, or
coverage terms

•
Illegal for your health insurer to:
Consider family history or a genetic test result a pre-existing
condition
 Ask or require that you have a genetic test
 Use any genetic information they do have to discriminate
against you, even if they did not mean to collect it

GINAhelp.org
GINA & Employment

Illegal for employers to use your genetic
information in the following ways:
To make decisions about hiring, firing, promotion, pay,
privileges or terms
 To limit, segregate, classify, or otherwise mistreat an
employee

•
Illegal for an employer to request, require, or
purchase the genetic information of a potential
or current employee, or his or her family
members.
GINAhelp.org
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
10. Confidentiality issues, including, for DTC testing companies,
policies related to privacy and data security
11. Possible use of DNA testing samples in future research
12. Options and limitations of medical surveillance and
strategies for prevention after genetic or genomic testing
13. Importance of sharing genetic and genomic test results with
at-risk relatives so that they may benefit from this
information
14. Plans for follow-up after testing
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
10. Confidentiality issues, including, for DTC testing companies,
policies related to privacy and data security
11. Possible use of DNA testing samples in future research
12. Options and limitations of medical surveillance and
strategies for prevention after genetic or genomic testing
13. Importance of sharing genetic and genomic test results with
at-risk relatives so that they may benefit from this
information
14. Plans for follow-up after testing
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
10. Confidentiality issues, including, for DTC testing companies,
policies related to privacy and data security
11. Possible use of DNA testing samples in future research
12. Options and limitations of medical surveillance and
strategies for prevention after genetic or genomic testing
13. Importance of sharing genetic and genomic test results with
at-risk relatives so that they may benefit from this
information
14. Plans for follow-up after testing
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
10. Confidentiality issues, including, for DTC testing companies,
policies related to privacy and data security
11. Possible use of DNA testing samples in future research
12. Options and limitations of medical surveillance and
strategies for prevention after genetic or genomic testing
13. Importance of sharing genetic and genomic test results with
at-risk relatives so that they may benefit from this
information
14. Plans for follow-up after testing
Modified from ASCO 2003 Statement
Basic Elements of Informed Consent for
Cancer Susceptibility Testing
10. Confidentiality issues, including, for DTC testing companies,
policies related to privacy and data security
11. Possible use of DNA testing samples in future research
12. Options and limitations of medical surveillance and
strategies for prevention after genetic or genomic testing
13. Importance of sharing genetic and genomic test results with
at-risk relatives so that they may benefit from this
information
14. Plans for follow-up after testing
Modified from ASCO 2003 Statement
Post-test Counseling
Result Disclosure and Interpretation


Negative, Positive, Variant of Uncertain Significance
(VUS)
Clarify the result in terms of personal and family
history
 True
negative vs. uninformative negative
Cancer Risk Assessment


Based on genetic test result, risk assessment models,
or empiric data
Include basic risk assessments for family members
when available and applicable
Cancer Screening Recommendations

Will be addressed regardless of result
 Individuals
with negative test result but increased
cancer risk will receive individual screening
recommendations

Discuss general American Cancer Society Guidelines
for the Early Detection of Cancer
Appropriate Referrals


Long term follow up programs
Clinicians/clinics for subsequent medical
management
Resource Provision


Pre-test and post-test genetic counseling medical
record documentation provided to patient
Specialized resources:
 Provide
template or custom letter to family to explain
testing results and implications to other family members
 Psychosocial support
 Facing
Our Risk of Cancer Empowered (FORCE)
 Bright Pink
Additional Testing Options


Other hereditary cancer syndromes indicated by
personal or family history
Future discoveries/developments in the field of
cancer genetics
QUESTIONS?
References




American Society for Clinical Oncology policy statement
update. Genetic testing for cancer susceptibility. J Clin Oncol.
2003;21:2397–2406.
National Cancer Institute. NCI’s Community Cancer Centers
Program (NCCCP). Cancer Genetic Counseling Assessment Tool.
Available online at: http://ncccp.cancer.gov/.
National Comprehensive Cancer Network (2006) Clinical
practice guidelines in oncology: colorectal cancer screening.
www.nccn.org
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K. American
Society of Clinical Oncology policy statement update: genetic
and genomic testing for cancer susceptibility. J Clin Oncol.
2010;28:893-901.
References



Schneider K. Counseling About Cancer. Strategies for Genetic
Counseling, 2nd ed. New York: Wiley-Liss, 2002.
Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda
Guidelines for hereditary nonpolyposis colorectal cancer
(Lynch syndrome) and microsatellite instability. J Natl Cancer
Inst. 2004;96:261–8.
Vasen HF, Mecklin JP, Khan PM, Lynch HT. The International
Collaborative Group on hereditary non-polyposis colorectal
cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424–5