Knowledge Translation in Cancer: The Implications of Genetics ...

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  • Why do anthropologists go to study people in foreign cultures?
  • I would like to take you on an exploration to two foreign cultures.
  • You are all very tired of genetics – the promises are tantalizing, but the results have been limited.
  • You are all familiar with these basic facts about cancer and cancer genetics. The key is that genetics plays a role in both hereditary and sporatic cases of cancer. That is the basis of the promise, but it has creased a gulf of knolwedge.
  • Two tribes similar ecology and traditions -
  • The common genes involved in hereditary cancers do not cause cancer but are genes with mutations that prevent them from suppressing cancer or repairing cells.
  • Genes do not only affect a single site- they are pleotropic and create collections or syndromes of disease.
  • Names of genes can be misleading.
  • Hereditary nonpolyposis colon cancer is a dissease that can be cause by several different mutations on different genes.
  • It too is responsible for a syndrome of diverse forms or tumor.
  • The geneics
  • Geneticists and oncologists approached the same patients and conditions with very diffeent perspectives. Paid attention to very different issues. Even the same words met something different.
  • Initially in meetings they misinterpreted each other. Then they talked past each other. Each brought his or her expertise to bear on a case.
  • Knowledge Translation in Cancer: The Implications of Genetics ...

    1. 1. Knowledge Translation in Cancer: The Implications of Genetics for Cross-cultural Cancer Care William H. McKellin, PhD Department of Anthropology and Sociology Doctor, Patient and Society Courses Faculty of Medicine Hereditary Cancer Program, BCCA
    2. 4. Cultural Communities
    3. 5. Knowledge Translation: Cancer Genetics and Cancer Care <ul><li>Cross-cultural Knowledge Translation in Medicine </li></ul><ul><li>Creating Meanings by Analogy </li></ul><ul><li>Culture Change- Genetics and Cross-cultural Cancer Care </li></ul>
    4. 6. Genetic Promises <ul><li>The Human Genome Project is catalyzing discovery of cancer genes and development of: </li></ul><ul><ul><li>predictive tests to identify genetic predisposition </li></ul></ul><ul><ul><li>diagnostic tests to detect cancer in its earliest stages </li></ul></ul><ul><ul><li>therapies that target gene abnormalities in cancer cells </li></ul></ul><ul><ul><ul><li>- Am Soc Clinical Oncology 1998 </li></ul></ul></ul>
    5. 7. The Human Genome and Cancer <ul><li>All cancers arise from genetic alterations </li></ul><ul><li>Tumorigenesis is a multi-step process </li></ul><ul><li>About 5% to 10% of cancer is hereditary </li></ul>
    6. 8. Cancer Arises From Gene Mutations <ul><li>Germline mutations </li></ul>Somatic mutations Somatic mutation (eg, breast) Mutation in egg or sperm All cells affected in offspring Parent Child <ul><li>Present in egg or sperm </li></ul><ul><li>Are heritable </li></ul><ul><li>Cause cancer family syndromes </li></ul><ul><li>Occur in nongermline tissues </li></ul><ul><li>Are nonheritable </li></ul>
    7. 9. Oncologists and Geneticists <ul><li>Common Training </li></ul><ul><li>Same institution </li></ul><ul><li>Same first language </li></ul><ul><li>Different second languages </li></ul><ul><li>Different cultures </li></ul>
    8. 10. Medical Model Family Intervention Diagnosis Locus Causative Agent Disease State
    9. 11. Medical Oncology Perspective Patient support Family Chemotherapy Tissue pathology Organ tumor Somatic mutation Symptomatic cancer patient Intervention Diagnosis Locus Causative agent Disease State
    10. 12. Predictive Genetic Testing <ul><li>Gene based predictive testing for hereditary risk </li></ul><ul><li>What do oncologists and Family Practitioners need to know? </li></ul>
    11. 13. BRCA1 <ul><li>Tumor suppressor gene on chromosome 17 </li></ul><ul><li>Autosomal dominant transmission </li></ul><ul><li>Protein has role in genomic stability </li></ul><ul><li>~500 different mutations reported </li></ul>Breast Cancer Information Core Nonsense Missense Splice-site
    12. 14. BRCA1 -Associated Cancers: Lifetime Risk Possible increased risk of other cancers (eg, prostate, colon) Breast cancer 50%  85% (often early age at onset) Second primary breast cancer 40%  60% Ovarian cancer 15%  45%
    13. 15. BRCA2 <ul><li>Tumor suppressor gene on chromosome 13 </li></ul><ul><li>Autosomal dominant transmission </li></ul><ul><li>Protein has role in genomic stability </li></ul><ul><li>~300 different mutations reported </li></ul>Breast Cancer Information Core Nonsense Missense Splice-site
    14. 16. BRCA2 -Associated Cancers: Lifetime Risk Increased risk of prostate, laryngeal, and pancreatic cancers (magnitude unknown) breast cancer (50%  85%) ovarian cancer (10%  20%) male breast cancer (6%)
    15. 17. Genetic Heterogeneity in HNPCC HNPCC is associated with germline mutations in any one of at least five genes Chr 2 Chr 3 Chr 7 MSH2 PMS1 MLH1 PMS2 MSH6
    16. 18. Cancer Risks in HNPCC Aarnio M et al. Int J Cancer 64:430, 1995 % with cancer 100 80 60 40 20 0 20 40 60 80 0 Age (years) Colorectal 78% Endometrial 43% Stomach 19% Biliary tract 18% Urinary tract 10% Ovarian 9% ASCO
    17. 19. Medical Genetics Perspective Shared risk status Family Predictive risk counselling DNA test Pleotropic Germline mutation At-risk for mutation Intervention Diagnosis Locus Causative Agent Disease State
    18. 20. Shared risk status Patient support Family Genetics Oncology Predictive risk counselling DNA test Pleotropic Germline mutation At-risk for mutation Chemotherapy Tissue pathology Organ tumor Somatic mutation Symptomatic cancer patient Intervention Diagnosis Locus Causative agent Disease State
    19. 21. Knowledge Translation: Transmission models <ul><li>Science Push </li></ul><ul><li>Clinical/Policy Pull </li></ul><ul><li>Assumptions: </li></ul><ul><ul><li>Information is an object </li></ul></ul><ul><ul><li>Information is passed though a conduit </li></ul></ul><ul><ul><li>Translation is passive acceptance by the audience </li></ul></ul>
    20. 22. Knowledge Translation: Interaction models <ul><li>Information is only a raw material </li></ul><ul><li>Interaction is a process that creates meaning </li></ul><ul><ul><li>Cultural Creolization </li></ul></ul><ul><ul><li>(Hannerz 1992) </li></ul></ul><ul><ul><li>Conceptual Integration and Blending </li></ul></ul><ul><ul><li>(Faucconier and Turner 1998, 2002) </li></ul></ul><ul><li>Interaction makes participants to create new analogies and concepts </li></ul>
    21. 26. Conceptual Integration and Blending <ul><li>Decompose established knowledge </li></ul><ul><ul><li>Restricted codes </li></ul></ul><ul><ul><li>Elaborating codes </li></ul></ul><ul><li>Identify shared elements of knowledge </li></ul><ul><li>Identify incompatible elements </li></ul><ul><li>Negotiate mutual relevances </li></ul><ul><li>Synthesize new meanings </li></ul><ul><ul><li>Meanings are networks of perspectives </li></ul></ul>
    22. 27. Cancer Genetics and Emerging Psychosocial Issues <ul><li>Role of Families </li></ul><ul><li>Predictive and diagnostic testing </li></ul><ul><li>Ethnicity </li></ul>
    23. 28. Cancer as a Familial Disease <ul><li>Oncology </li></ul><ul><ul><li>Disclosing cancer diagnosis to family </li></ul></ul><ul><ul><li>Family as patient support </li></ul></ul><ul><ul><li>Responsibility for patient care </li></ul></ul><ul><li>Genetics </li></ul><ul><ul><li>Disclosing risk status to other family members at risk </li></ul></ul><ul><ul><li>Shared inherited risk and vulnerability </li></ul></ul><ul><ul><li>Mutual responsibility for disease </li></ul></ul><ul><ul><ul><li>Heredity </li></ul></ul></ul><ul><ul><ul><li>Environmental exposure </li></ul></ul></ul><ul><ul><li>Patient expertise in genetics </li></ul></ul>
    24. 29. The Cancer Family <ul><li>What are the key issues that patients and family members attempt to “map onto” clinicians’ expectations of their roles? </li></ul><ul><li>What language do they use? </li></ul><ul><li>What expertise do patients and their families develop? </li></ul>
    25. 30. Predictive and Diagnostic Testing What is a genetic test? <ul><li>Predictive genetic tests </li></ul><ul><ul><li>Risk status of individual tested </li></ul></ul><ul><ul><ul><li>BRCA1 /2, HNPCC </li></ul></ul></ul><ul><ul><li>Implications for other family members’ risk </li></ul></ul><ul><ul><li>Founder mutations </li></ul></ul><ul><ul><li>Familial mutations </li></ul></ul>
    26. 31. Predictive and Diagnostic Testing What is a genetic test? <ul><li>Predictive genetic tests </li></ul><ul><ul><li>Risk status of individual tested </li></ul></ul><ul><ul><ul><li>BRCA1 /2, HNPCC </li></ul></ul></ul><ul><ul><li>Implications for other family member’s risk </li></ul></ul><ul><ul><li>Founder mutations </li></ul></ul><ul><ul><li>Familial mutations </li></ul></ul><ul><li>Diagnostic genetic tests </li></ul><ul><ul><li>Detect disease </li></ul></ul><ul><ul><ul><li>MSI - colon cancer </li></ul></ul></ul><ul><ul><li>Ambiguous relevance to family members </li></ul></ul><ul><ul><li>May lead to mutation testing </li></ul></ul><ul><ul><li>Familial mutations </li></ul></ul>
    27. 32. Predictive and Diagnostic Genetic Tests <ul><li>What is the relationship between a mutation and a form of the disease? </li></ul><ul><li>Are predictive tests used as a form of diagnosis? </li></ul><ul><li>Why should a patient have a genetic test if reproduction is not a concern? </li></ul><ul><li>Are genetic tests just like other types of medical tests? </li></ul><ul><li>Do genetic diagnostic tests provide too much information about the individual and family? </li></ul>
    28. 33. Ethno-cultural groups and Founder populations <ul><li>Genetic (essentialist) definitions of ethnocultural groups </li></ul><ul><ul><li>Defining genotypes </li></ul></ul><ul><ul><li>Genetic heterogeneity </li></ul></ul><ul><li>Genetic stereotyping of communities </li></ul><ul><ul><li>Associated conditions </li></ul></ul><ul><li>Kinship and marriage in contrast to patterns of heredity </li></ul><ul><li>Targeted testing and therapies </li></ul><ul><li>Community control of genetic and population health information </li></ul>
    29. 34. Ethnicity Targeted testing and intervention Cultural competence Cancer Care Founder Population Ethno-cultural Relation Community genome ownership? Heredity Identified though testing Genome, characteristic mutations Situational variable Individual to group Kinship Structure Self-identify Group membership Language, health beliefs, etc. Group definition
    30. 35. Ethnicity <ul><li>How will ethnocultural groups change with- </li></ul><ul><ul><li>Genetic testing for founder mutations? </li></ul></ul><ul><ul><li>Diagnostic genetic testing that reveals family information? </li></ul></ul><ul><ul><li>Control of community genetic information? </li></ul></ul><ul><ul><li>Development of population-specific therapies? </li></ul></ul>
    31. 36. Cancer Genetics and Cross-cultural Cancer Care <ul><li>Genetics is producing a culture change in medicine </li></ul><ul><ul><li>Patients without disease </li></ul></ul><ul><ul><li>The family (and even extended family) as patient </li></ul></ul><ul><ul><li>Follows patients developmentally over time </li></ul></ul><ul><ul><li>Disease and community involvement </li></ul></ul><ul><ul><li>Linkage of counselling to advanced medical science </li></ul></ul><ul><ul><li>Environmental exposure and genetics </li></ul></ul><ul><ul><li>Targeted therapies </li></ul></ul><ul><li>How will genetics change the way that care-givers and patients share knowledge? </li></ul>

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