종양유전 상담과 전망

1. 종양유전 상담과 전망 2007.2.24 고신대 강의 전명희(jun7710@dju.ac.kr) www.e-dju.ac.kr/brca

2. Medical Genetics Program Hospitals, Disease Specialty Clinics Medical Director Patients • Breast Risk • Reproductive Risk • Adult Disease Risk • Hereditary Cancer Syndrome Risk Physicians Referrals Self Referrals Advanced Practice Nurse in Genetics (APNG) and or Genetic Counselor

3. Model of Delivering Genetic Services, (Antely, 1979) Stage 1. Pre Counseling Pedigree Assessment of Perceived & Actual Risk Genetic Pedigree Genetic Risk Education about Disease, Genetic Testing & Options Stage 2. Test Counseling Individual Decision Making & Informed Consent for Genetic Testing Genetic Testing Accepted or Declined Stage 3. Post Counseling Reappraisal & Psychological Reaction Follow up Counseling & Evaluation of Decision(s), Support Resources Model of Decision Making & Adjustment (Mealey, 1984)

4. What is the Goal of Public Health genetics? & Who is the Target Population? Moderate-Risk Average-Risk High-Risk

5. Current Theories of Decision Making in Medical Genetics • Theory of Coping and Decisional Conflict Resolution (Janis & Mann, 1977) • Theory of Cognitive Appraisal, Stress, Coping and Adaptation (Lazarus & Folkman, 1984) • Theory of Delivering Medical Genetic Services (Mealy, 1984) • Theory of Uncertainty in Illness (Mishel et al., 1990)

6. Conflict Model of Decision Making (Janis & Mann, 1977) Stress Uncertainty Anxiety Fear Threat or a Risk Cognitive Appraisal Emotion Focused Problem Focused Ineffective Coping Effective Coping Decisional Conflict Unresolved Resolved Denial, Avoidance Hypervigilance Adaptation & Adjustment

7. Perceived Uncertainty in Illness (Mishel,1990) Symptom Pattern Event Unfamiliarity Event In congruency Unpredictability Antecedents to Uncertainty Health Threat or High-Risk Cognitive Appraisal of Uncertainty Actual or Perceived Knowledge Cognitive Capacity Anxiety, Depression, Fear, Fatigue, Anger Education Social Support Credible Authority Structuring the Cognitive Schemata Effects Coping Increasing or Decreasing Uncertainty Effective or Ineffective Coping

8. A Six Phase Model of Delivering Genetic Services (Antely, 1979) • A Six Phase Model of Decision-Making and Adjustment in Clinical Genetics (Mealy, 1984) • An Individualistic Model of Decision • MakingDrives Delivery of Genetic Services • There is no Model of Family Decision Making in Genetics

9. Individualist Model of Decision Making in Genetic Counseling & Testing Creates Barriers to Communication & Stigma Nuclear Family Siblings Siblings Mother-Father Children • Genetic Testing • Prenatal • Huntington’s • Cancer • Alzheimer's • Pediatric Diseases Psychological Distress Anxiety, Shame, Fear, Confusion/uncertainty, Guilt, Stigmatized Decision to Communicate or Withhold Complex Information about Genetics and Genetic Risk Beliefs about Health, Family Functioning, Family History & Coping with Illness Ethical Dilemmas Autonomy, Privacy, Right to know or not know, Coercion to test

10. Discuss Ethical, Legal and Social implications -- • stigma associated with familial risk • psychological impact of label ‘at-risk’ • discrimination or adverse effects on personal and family life • informed consent requirements • safeguards to protect privacy and confidentiality • Disclosure of test results to other family members

11. ELSI issue:Principles of bioethics Fundamental bioethics principles apply to issues related to the cancer risk assessment process • Respect for autonomy(includes privacy, confidentiality) • Beneficence • Nonmaleficence • Justice(equality and access)

12. Respect for autonomy • Encompass the individual’s right to : • Informed consent • Privacy and confidentiality • Protection against coercion • Refuse treatment

13. Beneficence:Act to improve patient welfare Benefits outweigh risks: • Knowlledge about risks/empowerment, relief from uncertainty • Information will result in appropriate risk management

14. Nonmaleficence: Do not harm Addresses issues related to : • Psychological well-being • Family/social relationships • Understanding sensitivity, limitations of genetic test • Use of genetic testing for children/prenatal diagnosis

15. Common ethical issues for families • Right to know/right not to know • Sharing of information • Coercion • Privacy • Reproductive decision making • Testing of minors

16. When Should Genetic Testing Be Considered for Children ? • Expression of disease in childhood and • Effective management interventions available.ex,FAP,VHL,retinoblastoma, MEN 2A and 2B(standard of care) • Parental diagnostic testing sometimes equivocal. ASHG/ACMG Report. Am J hum Gent 57:1233, 1995

17. Test for Children & Adolescents • As genetic testing for children and adolescents becomes increasingly feasible, research should focus on the effectiveness of proposed preventive and therapeutic interventions and on the psychosocial impact of tests. Such data are necessary to define the empirical benefits and harms of testing before judgments about the advisability of testing are formulated. (Wilfond, 1995, Am. J. Hum. Genet. 57:1233-1241)

18. Justice Governs issues related to society: • Access to care • Genetic risk assessment • Genetic testing High risk management Research protocols • Standards of care • Ensure consistent quality of care provided • Protect all stakeholders

19. Justice • Supporting those at risk • Support • Advocacy • Research • Education • Non profit • Philanthropic grants • Research grants

20. Potential Legal Issues for Clinicians Emerging duties may include : • Disclosing benefits, risks, and limitations of testing • Maintaining confidentiality • Following up and re-contacting • Warning of potential risk to others

21. Potential Legal Issues for Clinicians(cont.) • Documented concerns about adverse effects of genetic testing • Hesitance to pursue/recommend risk assessment and testing • Potential to hinder medical research efforts

22. What is Genetic Discrimination? • Social or economic discrimination based on one’s hereditary predisposition to disease • Denial of access to or increased cost of health, disability, life insurance • Loss of employment, educational, social or other opportunities • It is not clear that insurance discrimination based on cancer predisposition will be a major issue (predictive genetic testing used to reduce risk-Paradigm shift)

23. Protecting access to health insurance in the U.S. State law • Some state have passed laws that prevent insurers from requiring a genetic test or requesting results from a previous genetic test • These laws do not apply to self-funded group plans Federal law • Health insurance Portability and Accountability Act(HIPAA) passed in 1996 • HIPAA does apply to self-funded group plans

24. Protecting access to employment • The Americans with Disabilities Act(ADA) has been interpreted to protect against employment discrimination based on genetic information • Some states also have passed laws to prevent genetic information from being used in employment considerations

25. Health insurance Portability and Accountability Act(HIPAA) Does: • State that genetic information cannot be used to deny or limit coverage for members of group plans • Prevent insurers from charging different individual premiums within a group plan • State that genetic information cannot be viewed as a pre-existing condition (“in the absence of a diagnosis of the condition related to such information”)

26. Health insurance Portability and Accountability Act(HIPAA) Does not : • Prevent access by insurers to genetic information (no medical privacy clause) • Prevent the insurer from demanding genetic testing as a condition of coverage • Protect against group rate hikes • Compel insurers to cover high-risk management • Provide much protection outside the group market (individual policies not covered)

27. Informed Consent • Involves more than having a client sign a consent form • Process of information exchange and decision making between clinicians and patient The event model The process model

28. The event model of informed consent • The nurse presents the client with several options from which to choose

29. Process model of informed consent • Assume a relationship with the healthcare provider in which decision making is approached as a multistep process shared over time. • Integral to informed, shared decision making • Educational component +decision making component

30. Process model of informed consent(cont.) • Discussion of the clinical issue and nature of the decision to be made • Discussion of the alternatives • Discussion of the pros(or benefits) and cons(or risks) of the alternatives • Discussion of the uncertainties associated with the decision • Assessment of client’s understanding • Asking the client to express a preference

31. The PARQ Method • A standard method of obtaining informed consent and documenting the medical record • Procedure: Explain the procedure • Alternatives:State the alternatives • Risks:State the risks of the procedure and the alternatives • Questions:Ask if the client wants more detailed information

32. Case study#1 • Bertha is a 71-year-old Ashkenazi Jewish female with history of breast cancer(dx age 48). Her sister had breast cancer at age 50. Extended family history truncated. • She is seeking cancer risk assessment due to her 50-year-old daughter Sandy’s concerns about her BC risk and questions about HRT • She comes to the session with Sandy and her other daughter, Judith, who is 45 years old. Sandy wants mom to have testing. Judith is cancer phobic and does not want mom to test

33. Case study #1 • Issues : • Who is the patient ? Who are we counseling? • Probability of a BRCA AKJ founder mutation in Bertha? • Bertah’s probability of a BRCA fonder mutation is ~27%(Couch, Frank) (arbitrary #:10% ) • What ethical issues are in conflict ? • Beneficence vs. nonmaleficence: autonomy for all family members (potential for coercion, directiveness) AJ/AJ d.62 Bertha 71 BC 48 BC 49 TAH/BSO 40 Judith Sandy 45 49

34. Case study #1 Issue : • How to proceed with session ? • Counsel all three family members: include discussion of alternative testing strategies and alternatives to testing • What if Sandy has testing and results are positive ? Negative? • Positive results may increase Sandy’s concerns about her genetic risk by inference • Negative results equivocal : have potential of reducing anxiety only if genetic status of mother ascertained(beneficence vs. nonmaleficence)

35. Research Needed to Develop new Models • Genetic Epidemiology: Who is at Risk • Genetic and Environment Interaction Risk Data • Genetic & Biochemical Markers • Ethical Issues in Families • Discrimination/ Privacy • Informed Consent • Non-maleficence • Research Ethics for Family ‘Disease’ Registries • Family Outcomes • Health Beliefs • Health Surveillance • Behavioral Change • Perceived Risks • Cultural, Gender, Class Differences • Public Health Genetics Issues • Policy Development to Determine Best Models • Clinical utility and predictive value of Medical Pedigree • What Methods are Most Effective in Communicating Genetic Risk Information

36. Client Resources on the Internet Rate the internet sites • Reliable and current source of information: Yes / No • Readability: Easy to read and to navigate: Yes / No • Resource for families: Yes / No • Overall rating of site: E = Excellent A = Average P = Poor

37. 유전상담 프로그램 운영 유방, 난소암 유전 상담 연구회 (최경숙, 전명희, 안세현, Gwen Anderson) • 유방, 난소암 유전 상담 연구회는 대한민국의 한국 학술진흥재단의 지원 아래, 유방암 혹은 난소암 가족력을 지닌국여성이 유방암 조기발견 및 예방 프로그램에 접근하는데 있어서 어떤 어려움이 있는지 이해하고, 이들을 돕는 한국형 유방암 상담 프로그램 개발에 필요한 주요 요인을 확인하는 연구를 진행하고 있다. • 연구기간: 2003.12~2006.11

38. My Project • 유전성 유방암 환자와 가족의 경험 기술: 국내, Korean-American • 교육요구도 조사(지식도): 환자, 간호사, 의사 • 간호사용 교육과정 개발 • 종양유전상담프로그램 운영 연구(www.e-dju.ac.kr/brca)

39. Thank you! 궁금증이 있으면 언제든지 질문하세요… 대전대 전명희 (jun7710@dju.ac.kr www.e-dju.ac.kr/brca)