종양유전 상담과 전망

2007.2.24 고신대 강의전명희 (jun7710@dju.ac.kr)

www.e-dju.ac.kr/brca

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)

Thank you!

궁금증이 있으면 언제든지 질문하세요… 대전대 전명희

(jun7710@dju.ac.krwww.e-dju.ac.kr/brca)