1 / 53

Cancer Genetic Counseling North Dakota Cancer Coalition Cancer Conference May 18, 2011

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

ewilliams
Download Presentation

Cancer Genetic Counseling North Dakota Cancer Coalition Cancer Conference May 18, 2011

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Cancer Genetic CounselingNorth Dakota Cancer Coalition Cancer ConferenceMay 18, 2011 Marie Schuetzle, MS, CGC Larissa Hansen, MS

  2. 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

  3. 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/

  4. National Guidelines

  5. 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

  6. Clinical Guidelines

  7. 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

  8. Risk Assessment • Personal history • Family history • Pathological findings • National diagnostic/testing criteria • Mutation risk models • Genetic test results

  9. No Hereditary Pattern

  10. Possible Cancer Syndrome

  11. 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

  12. Cancer Syndrome Diagnosed

  13. 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

  14. Breast Cancer Example

  15. 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

  16. 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

  17. Summary of Risk Estimates

  18. 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

  19. Claus EB et al. Cancer 73:643,1994

  20. 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

  21. Informed Consent

  22. 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

  23. 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

  24. 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

  25. 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

  26. 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

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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

  34. 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

  35. 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

  36. 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

  37. 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

  38. Post-test Counseling

  39. 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

  40. 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

  41. 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

  42. Appropriate Referrals • Long term follow up programs • Clinicians/clinics for subsequent medical management

  43. 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

  44. Additional Testing Options • Other hereditary cancer syndromes indicated by personal or family history • Future discoveries/developments in the field of cancer genetics

More Related