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 ID: 911697
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Cancer Genetic CounselingNorth Dakota Cancer Coalition Cancer ConferenceMay 18, 2011
Marie Schuetzle, MS, CGC
Larissa Hansen, MS
Slide2ObjectivesAt the conclusion of this presentation, participants should be able toIdentify 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
Slide3Genetic CounselingDefinitionGenetic 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/
Slide4National Guidelines
Slide5Indications for Genetic EvaluationEarly age of onsetMultiple primary cancers in one individualTwo + family members with the same or related cancers
Rare cancer
Cancer diagnosis and high risk population
Slide6Clinical Guidelines
Slide7Genetic Counseling ProcessAssess hereditary cancer riskNo hereditary patternSuspicious of hereditary pattern, additional evaluation needed
Hereditary cancer syndrome, testing warranted
Offer testing when appropriate
Facilitate testing when desired
Provide recommendations
Slide8Risk AssessmentPersonal historyFamily historyPathological findingsNational diagnostic/testing criteria
Mutation risk models
Genetic test results
Slide9No Hereditary Pattern
Slide10Possible Cancer Syndrome
Slide11Tumor Testing CriteriaRevised Bethesda GuidelinesCRC 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
Slide12Cancer Syndrome Diagnosed
Slide13Diagnostic CriteriaAmsterdam Criteria IThree 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
Slide14Breast Cancer Example
Slide15Breast Cancer ExampleFirst 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
Slide16Mutation Risk ModelsBRCAPro
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 PennsylvaniaRisks 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
Slide17Slide18Slide19Slide20Slide21Slide22Slide23Summary of Risk Estimates
Model
Mutation Risk
BRCAPro
4.6%
Myriad
2.6%
Penn II
21% patient
43% family
Slide24Breast Cancer Risk ModelsGailHormone historyBreast cancer in first degree relatives
Biopsy
Race
Claus
Family history of breast cancer
Tyrer-Cuzick (IBIS)Family historyHormone history
AJ ancestry
Slide25Claus EB et al. Cancer 73:643,1994
Age
% Risk
59
15.7
69
22.6
79
27.4
Slide26Genetic Counseling ProcessAssess Hereditary Cancer RiskNo Hereditary PatternSuspicious of hereditary pattern, additional evaluation needed
Hereditary cancer syndrome, testing warranted
Offer testing when appropriate
Facilitate testing when desired
Provide Recommendations
Slide27Informed Consent
Slide28Basic Elements of Informed Consent for Cancer Susceptibility Testing1. 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
Slide29Basic Elements of Informed Consent for Cancer Susceptibility Testing1. 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
Slide30Basic Elements of Informed Consent for Cancer Susceptibility Testing1. 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
Slide31Basic Elements of Informed Consent for Cancer Susceptibility Testing1. 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
Slide32Basic Elements of Informed Consent for Cancer Susceptibility Testing1. 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
Slide33Basic Elements of Informed Consent for Cancer Susceptibility Testing6. 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
Slide34Basic Elements of Informed Consent for Cancer Susceptibility Testing6. 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
Slide35Basic Elements of Informed Consent for Cancer Susceptibility Testing6. 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
Slide36Basic Elements of Informed Consent for Cancer Susceptibility Testing6. 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
Slide37Genetic 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
Slide38GINA & EmploymentIllegal 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
Slide39Basic Elements of Informed Consent for Cancer Susceptibility Testing10. 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
Slide40Basic Elements of Informed Consent for Cancer Susceptibility Testing10. 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
Slide41Basic Elements of Informed Consent for Cancer Susceptibility Testing10. 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
Slide42Basic Elements of Informed Consent for Cancer Susceptibility Testing10. 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
Slide43Basic Elements of Informed Consent for Cancer Susceptibility Testing10. 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
Slide44Post-test Counseling
Slide45Result Disclosure and InterpretationNegative, Positive, Variant of Uncertain Significance (VUS)Clarify the result in terms of personal and family history
True negative vs. uninformative negative
Slide46Cancer Risk AssessmentBased on genetic test result, risk assessment models, or empiric dataInclude basic risk assessments for family members when available and applicable
Slide47Cancer Screening RecommendationsWill be addressed regardless of resultIndividuals 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
Slide48Appropriate ReferralsLong term follow up programsClinicians/clinics for subsequent medical management
Slide49Resource ProvisionPre-test and post-test genetic counseling medical record documentation provided to patientSpecialized 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
Slide50Additional Testing OptionsOther hereditary cancer syndromes indicated by personal or family historyFuture discoveries/developments in the field of cancer genetics
Slide51QUESTIONS?
Slide52ReferencesAmerican 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.
Slide53ReferencesSchneider 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