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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

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cancer genetic counseling north dakota cancer coalition cancer conference may 18 2011

Cancer Genetic CounselingNorth Dakota Cancer Coalition Cancer ConferenceMay 18, 2011

Marie Schuetzle, MS, CGC

Larissa Hansen, MS

objectives
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
Genetic Counseling
  • Definition
    • Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.
  • Degree
    • 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/

indications for genetic evaluation
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
genetic counseling process
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
Risk Assessment
  • Personal history
  • Family history
  • Pathological findings
  • National diagnostic/testing criteria
  • Mutation risk models
  • Genetic test results
tumor testing criteria
Tumor Testing Criteria

Revised Bethesda Guidelines

  • CRC diagnosis in a patient under 50 years of age
  • Presence of synchronous/metachronous HNPCC-associated 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 second-degree relatives with HNPCC-associated cancers, regardless of age

Umar et al, 2004

diagnostic criteria
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 example1
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
Mutation Risk Models
  • BRCAPro
    • 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
  • Myriad II
    • 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
breast cancer risk models
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
genetic counseling process1
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
basic elements of informed consent for cancer susceptibility testing
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 testing1
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 testing2
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 testing3
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 testing4
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 testing5
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 testing6
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 testing7
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 testing8
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
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
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 testing9
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 testing10
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 testing11
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 testing12
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 testing13
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

result disclosure and interpretation
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
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
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
Appropriate Referrals
  • Long term follow up programs
  • Clinicians/clinics for subsequent medical management
resource provision
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
Additional Testing Options
  • Other hereditary cancer syndromes indicated by personal or family history
  • Future discoveries/developments in the field of cancer genetics
references
References
  • American Society for Clinical Oncology policy statement update. Genetic testing for cancer susceptibility. J ClinOncol. 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 ClinOncol. 2010;28:893-901.
references1
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