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종양유전 상담과 전망 2007.2.24 고신대 강의 전명희...
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Transcript of 종양유전 상담과 전망 2007.2.24 고신대 강의 전명희...
Medical Genetics Program
Hospitals, Disease Specialty Clinics
• Breast Risk• Reproductive
Risk• Adult Disease
Risk • Hereditary
Cancer Syndrome Risk
Physicians Referrals Self Referrals
Medical Director
Patients
Advanced Practice Nurse in Genetics (APNG) and or Genetic Counselor
Stage 1. Pre Counseling
Pedigree Assessment of Perceived &Actual Risk Stage 2. Test Counseling
Individual Decision Making & Informed Consent for Genetic Testing
Stage 3. Post Counseling
Reappraisal &Psychological Reaction
Model of Decision Making & Adjustment (Mealey, 1984)
Genetic Pedigree Genetic Risk
Education about Disease,Genetic Testing & Options
Genetic Testing Accepted or Declined
Follow up Counseling & Evaluation of Decision(s),
Support Resources
Model of Delivering Genetic Services, (Antely, 1979)
Lifetime Risk for Colon Cancer to Age 70
Average (sporadic)
65 – 85% of cases
Moderate (familial)
10 – 30% of cases
High (hereditary)
< 10% of cases
1% FAP 3-8% HNPCC 1-2% Other
75 - 80% HNPCC NonHereditary Polyposis Colon Cancer (HNPCC)
5%
Average-Risk Moderate-RiskHigh-Risk
What is the Goal of Public Health genetics?
&
Who is the Target Population?
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)
Current Theories of Decision Making in Medical Genetics
Cognitive Appraisal
StressUncertaintyAnxietyFear
Emotion Focused Problem Focused
Ineffective Coping Effective Coping
Denial, AvoidanceHypervigilance
Decisional Conflict
Adaptation& Adjustment
Conflict Model of Decision Making (Janis & Mann, 1977)
Unresolved Resolved
Threat or a Risk
Antecedents to Uncertainty
Actual or Perceived Knowledge
Structuring the Cognitive Schemata Effects Coping
Cognitive Appraisal of Uncertainty
Symptom PatternEvent UnfamiliarityEvent In congruencyUnpredictability
EducationSocial SupportCredible Authority
Cognitive CapacityAnxiety, Depression,Fear, Fatigue, Anger
Increasing or Decreasing Uncertainty
Perceived Uncertainty in Illness (Mishel,1990)
Health Threat or High-Risk
Effective or Ineffective Coping
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 Making Drives Delivery of Genetic Services
There is no Model of Family Decision Making in Genetics
Individualist Model of Decision Making in Genetic Counseling & Testing Creates
Barriers to Communication & Stigma Nuclear Family
Beliefs
about Health, Family Functioning, Family History & Coping with Illness
Genetic Testing
• Prenatal
• Huntington’s
• Cancer
• Alzheimer's
• Pediatric Diseases
Psychological Distress
Anxiety, Shame, Fear, Confusion/uncertainty, Guilt, Stigmatized
Ethical Dilemmas
Autonomy, Privacy, Right to know or not know, Coercion to test
Mother-Father
Children
SiblingsSiblings
Decision to Communicate or Withhold
Complex Information about Genetics and Genetic Risk
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
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)
Respect for autonomy
• Encompass the individual’s right to :– Informed consent– Privacy and confidentiality– Protection against coercion – Refuse treatment
Beneficence:Act to improve patient welfare
Benefits outweigh risks:• Knowlledge about risks/empowerment, reli
ef from uncertainty• Information will result in appropriate risk m
anagement
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
Common ethical issues for families
• Right to know/right not to know• Sharing of information• Coercion• Privacy• Reproductive decision making• Testing of minors
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
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)
Justice
Governs issues related to society:• Access to care
– Genetic risk assessment– Genetic testingHigh risk managementResearch protocols
• Standards of care– Ensure consistent quality of care provided– Protect all stakeholders
Justice
• Supporting those at risk• Support• Advocacy• Research• Education
– Non profit– Philanthropic grants– Research grants
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
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
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)
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 plansFederal law• Health insurance Portability and Accountability Act(HIPA
A) passed in 1996• HIPAA does apply to self-funded group plans
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
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”)
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)
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
The event model of informed consent
• The nurse presents the client with several options from which to choose
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
Process model of informed consent(cont.)
1. Discussion of the clinical issue and nature of the decision to be made
2. Discussion of the alternatives3. Discussion of the pros(or benefits) and
cons(or risks) of the alternatives4. Discussion of the uncertainties associated
with the decision5. Assessment of client’s understanding6. Asking the client to express a preference
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
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
Case study #1
AJ/AJ
d.62 Bertha 71BC 48 BC 49 TAH/BSO 40
Judith Sandy
45 49
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)
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 onl
y if genetic status of mother ascertained(beneficence vs. nonmaleficence)
Genetic Epidemiology: Who is at RiskGenetic and Environment Interaction Risk DataGenetic & Biochemical Markers
Ethical Issues in FamiliesDiscrimination/ PrivacyInformed ConsentNon-maleficenceResearch Ethics for Family ‘Disease’ Registries
Public Health Genetics IssuesPolicy Development to Determine Best ModelsClinical utility and predictive value of Medical PedigreeWhat Methods are Most Effective in Communicating Genetic Risk Information
Research Needed to Develop new Models
Family OutcomesHealth Beliefs Health SurveillanceBehavioral ChangePerceived RisksCultural, Gender, Class Differences
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
유전상담 프로그램 운영유방 , 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
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-d
ju.ac.kr/brca)