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

    • 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.  
    • 3.  
    • 4. Cultural Communities
    • 5. Knowledge Translation: Cancer Genetics and Cancer Care
      • Cross-cultural Knowledge Translation in Medicine
      • Creating Meanings by Analogy
      • Culture Change- Genetics and Cross-cultural Cancer Care
    • 6. Genetic Promises
      • The Human Genome Project is catalyzing discovery of cancer genes and development of:
        • predictive tests to identify genetic predisposition
        • diagnostic tests to detect cancer in its earliest stages
        • therapies that target gene abnormalities in cancer cells
          • - Am Soc Clinical Oncology 1998
    • 7. The Human Genome and Cancer
      • All cancers arise from genetic alterations
      • Tumorigenesis is a multi-step process
      • About 5% to 10% of cancer is hereditary
    • 8. Cancer Arises From Gene Mutations
      • Germline mutations
      Somatic mutations Somatic mutation (eg, breast) Mutation in egg or sperm All cells affected in offspring Parent Child
      • Present in egg or sperm
      • Are heritable
      • Cause cancer family syndromes
      • Occur in nongermline tissues
      • Are nonheritable
    • 9. Oncologists and Geneticists
      • Common Training
      • Same institution
      • Same first language
      • Different second languages
      • Different cultures
    • 10. Medical Model Family Intervention Diagnosis Locus Causative Agent Disease State
    • 11. Medical Oncology Perspective Patient support Family Chemotherapy Tissue pathology Organ tumor Somatic mutation Symptomatic cancer patient Intervention Diagnosis Locus Causative agent Disease State
    • 12. Predictive Genetic Testing
      • Gene based predictive testing for hereditary risk
      • What do oncologists and Family Practitioners need to know?
    • 13. BRCA1
      • Tumor suppressor gene on chromosome 17
      • Autosomal dominant transmission
      • Protein has role in genomic stability
      • ~500 different mutations reported
      Breast Cancer Information Core Nonsense Missense Splice-site
    • 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%
    • 15. BRCA2
      • Tumor suppressor gene on chromosome 13
      • Autosomal dominant transmission
      • Protein has role in genomic stability
      • ~300 different mutations reported
      Breast Cancer Information Core Nonsense Missense Splice-site
    • 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%)
    • 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
    • 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
    • 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
    • 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
    • 21. Knowledge Translation: Transmission models
      • Science Push
      • Clinical/Policy Pull
      • Assumptions:
        • Information is an object
        • Information is passed though a conduit
        • Translation is passive acceptance by the audience
    • 22. Knowledge Translation: Interaction models
      • Information is only a raw material
      • Interaction is a process that creates meaning
        • Cultural Creolization
        • (Hannerz 1992)
        • Conceptual Integration and Blending
        • (Faucconier and Turner 1998, 2002)
      • Interaction makes participants to create new analogies and concepts
    • 23.  
    • 24.  
    • 25.  
    • 26. Conceptual Integration and Blending
      • Decompose established knowledge
        • Restricted codes
        • Elaborating codes
      • Identify shared elements of knowledge
      • Identify incompatible elements
      • Negotiate mutual relevances
      • Synthesize new meanings
        • Meanings are networks of perspectives
    • 27. Cancer Genetics and Emerging Psychosocial Issues
      • Role of Families
      • Predictive and diagnostic testing
      • Ethnicity
    • 28. Cancer as a Familial Disease
      • Oncology
        • Disclosing cancer diagnosis to family
        • Family as patient support
        • Responsibility for patient care
      • Genetics
        • Disclosing risk status to other family members at risk
        • Shared inherited risk and vulnerability
        • Mutual responsibility for disease
          • Heredity
          • Environmental exposure
        • Patient expertise in genetics
    • 29. The Cancer Family
      • What are the key issues that patients and family members attempt to “map onto” clinicians’ expectations of their roles?
      • What language do they use?
      • What expertise do patients and their families develop?
    • 30. Predictive and Diagnostic Testing What is a genetic test?
      • Predictive genetic tests
        • Risk status of individual tested
          • BRCA1 /2, HNPCC
        • Implications for other family members’ risk
        • Founder mutations
        • Familial mutations
    • 31. Predictive and Diagnostic Testing What is a genetic test?
      • Predictive genetic tests
        • Risk status of individual tested
          • BRCA1 /2, HNPCC
        • Implications for other family member’s risk
        • Founder mutations
        • Familial mutations
      • Diagnostic genetic tests
        • Detect disease
          • MSI - colon cancer
        • Ambiguous relevance to family members
        • May lead to mutation testing
        • Familial mutations
    • 32. Predictive and Diagnostic Genetic Tests
      • What is the relationship between a mutation and a form of the disease?
      • Are predictive tests used as a form of diagnosis?
      • Why should a patient have a genetic test if reproduction is not a concern?
      • Are genetic tests just like other types of medical tests?
      • Do genetic diagnostic tests provide too much information about the individual and family?
    • 33. Ethno-cultural groups and Founder populations
      • Genetic (essentialist) definitions of ethnocultural groups
        • Defining genotypes
        • Genetic heterogeneity
      • Genetic stereotyping of communities
        • Associated conditions
      • Kinship and marriage in contrast to patterns of heredity
      • Targeted testing and therapies
      • Community control of genetic and population health information
    • 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
    • 35. Ethnicity
      • How will ethnocultural groups change with-
        • Genetic testing for founder mutations?
        • Diagnostic genetic testing that reveals family information?
        • Control of community genetic information?
        • Development of population-specific therapies?
    • 36. Cancer Genetics and Cross-cultural Cancer Care
      • Genetics is producing a culture change in medicine
        • Patients without disease
        • The family (and even extended family) as patient
        • Follows patients developmentally over time
        • Disease and community involvement
        • Linkage of counselling to advanced medical science
        • Environmental exposure and genetics
        • Targeted therapies
      • How will genetics change the way that care-givers and patients share knowledge?

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