Genetic Counseling Practice Flashcards

1
Q

History of Genetic Counseling

A

speculation on inheritance -> return of Mendel -> eugenics movement -> human subject protections -> medical-preventive era -> patient’s rights movements -> shared decision-making -> human behavior research -> psychotherapeutic model

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2
Q

Sheldon Reed’s 3 Requirements of Genetic Counseling

A
  • knowledge of human genetics
  • teach and provide genetic information to full extent known
  • respect for sensitivities, attitudes, and reactions of clients
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3
Q

Case Preparation

A
  • patient demographics
  • indication/reason for referral
  • intake notes
  • family history questionnaire
  • relatives’ medical records
  • patient’s medical records
  • differential diagnoses
  • inheritance, features, management of conditions
  • testing options
  • referrals
  • resources
  • anticipating patient questions
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4
Q

Contracting

A
  • agenda, building rapport, working relationship, therapeutic alliance, goals
  • process of bidirectional evaluation of knowledge, emotions, expectations, and goal-setting conducted by client and counselor to arrive at mutual understanding, respect, trust, consent, which is subject to adaptation as relationship progresses
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5
Q

Family History

A
  • constructing relevant, targeted, and comprehensive personal and family histories and pedigrees
  • assess individuals’ and their relatives’ probability of conditions with a genetic component or carrier status based on pedigree
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6
Q

Medical History

A
  • general: overall health/chronic illnesses, medical concerns, medications, hospitalizations/surgeries
  • prenatal: RPL, infertility, drug and alcohol exposures, birth defects
  • pediatric: pregnancy and delivery, APGARs, neonatal course, when concerns arose and of what kind, developmental history, cognition and socialization in school
  • cancer: details of diagnosis and treatment, current screening practices, environmental exposures
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7
Q

Patient Education

A
  • effectively educate clients about a wide range of genetic and genomics information based on their needs, their characteristics, and circumstances of encounter
  • write concise and understandable clinical and scientific information for audiences of varying educational backgrounds
  • several influences may affect patient comprehension and engagement
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8
Q

Risk Assessment

A
  • centers on genetic condition, differentials, impact of condition, symptoms, management, impact for other relatives
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9
Q

Influences on Perception of Risk

A
  • internal factors: personal attributes, beliefs about illness, perception of vulnerability, level and accuracy of knowledge
  • external factors: aspects of disorder, family experience, experience in genetic counseling
  • numeric probability, context, perceived severity, heuristics also influence risk perception
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10
Q

Anchoring

A

bias introduced by first concept or risk figured introduced

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11
Q

Cognitive and Emotional Factors

A

individual factors such as optimism v pessimism, attitudes toward taking risks, preference for numerical format

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12
Q

Prior Beliefs

A

client beliefs about level of risk

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13
Q

Availability

A

prior experiences of client

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14
Q

Representativeness

A

inference from small sample to larger group

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15
Q

Complexity

A

complexity of risk figures

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16
Q

Uncertainty

A

uncertainty associated with risk figure

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17
Q

Math Ability

A

ability to understand numerical values and probability

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18
Q

Competing Values

A

competing values and responsibilities

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19
Q

Consequences

A

range of consequences for specific client

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20
Q

Binarization

A

tendency to view risk in two categories (will occur/will not occur)

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21
Q

Need for Uncertainty Reduction

A

emotional need to reduce uncertainty

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22
Q

Risk v Burden

A

concept of risk v burden in light of concepts of uncertainty and desirability

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23
Q

Literacy

A
  • being able to read, understand what you’re reading
  • ability to evaluate and be skeptical
  • tied to education level, SES, interest level, language
  • health literacy: degree to which individuals can obtain, process, and understand basic health information and services needed to make appropriate health decisions
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24
Q

Risk Communication

A
  • numbers
  • negative framing, positive framing, balanced presentation of risks
  • contextualize risk
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25
Q

Risk Uncertainty

A
  • related to outcomes such as coping, decision-making, adaptation, quality of life
  • may be perceived as threat or opportunity
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26
Q

Risk Counseling

A
  • affective forecasting: people reach unjustified conclusions about own emotional responses to future events
  • empathic forecasting: people overestimate others’ affective experience
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27
Q

Psychosocial Concerns in Genetic Counseling

A

uncertainty, stress, anxiety, frustration, threat, injury, loss, grief, guilt, shame, stigma, coping, adaptation

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28
Q

Teaching and Counseling Model

A
  • Kessler
  • teaching: goal for client to make informed decisions, underlying process is education aimed at cognition and reason, counselor in role of authority
  • counseling: goal for client to adapt to circumstance at hand, underlying process is exploration of psychological and behavioral aspects, counselor in role of facilitator
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29
Q

Patient-Centered Counseling Model

A
  • unconditional positive regard, genuineness, empathy
  • self-actualization tendency
  • patient-centered approach
  • key tenets: dignity, respect, information sharing, active participation, collaboration
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30
Q

Reciprocal Engagement Model

A
  • mutual process in which counselor and client participate in educational exchange of genetic and biomedical information; counselor-client relationship is medium in which these activities occur
  • education: genetic information is key
  • individual attributes: patient autonomy must be supported, patients are resilient, patient emotions matter
  • relationship: relationship is integral to genetic counseling
  • genetic counseling outcomes: patient understands and applies information to make decisions, manage condition, adapt to situation
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31
Q

Psychotherapeutic Model

A
  • genetic counseling is a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal
  • helping relationship in which one person has the knowledge and skills relevant to helping another person address a problem through conversation
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32
Q

Counseling Skills

A
  • active listening, observing, attending
  • summarization
  • reinforcement
  • paraphrasing and reflection
  • normalization
  • challenging and confronting
  • empathy
  • questioning
  • clarification and concreteness
  • anticipatory guidance
  • self-disclosure
  • silence
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33
Q

Questioning

A
  • method of gathering info and generating discussion
  • open-ended: invites more response
  • focused: guides response toward specific circumstances
  • closed-ended: asks for y/n or specific details; does not encourage elaboration
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34
Q

Rephrasing

A

stating in your own words what client told you to demonstrate listening and comprehension

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35
Q

Reflecting

A

repeating last phrase of client’s statement in form of question to encourage further exploration of topic

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36
Q

Redirecting

A

used to manage rate of info exchange by directing introduction and flow of topics or refocusing discussion

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37
Q

Promoting Shared Language

A

mirroring client’s language/communication style to increase empathetic connection

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38
Q

Silence

A

used to create reflection time for what has been said, to formulate what to say next, or to gain composure

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39
Q

Anticipatory Guidance

A
  • medical: what to expect with symptoms, procedures, treatments, transitions in care
  • psychological: empty chair technique, role-playing, exploring worst case scenario, impending loss
  • both: possible test results implications, disclosure of diagnosis/risk
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40
Q

Decision-Making Process

A
  • introducing choice: ensure patient knows what reasonable options available (including doing nothing), planning step
  • describing options: share detailed information about each option, compare and contrast, reinforce poignant distinctions
  • explore preferences: identify what matters most and what is best
  • barriers: low health literacy and numeracy, cultural and religious beliefs, impaired or limited decision-making capacity, urgent situations, complications
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41
Q

Decision-Making Styles

A
  • rational: logical evaluation, planful, organized
  • intuitive: decisions made based on feelings, hunches
  • dependent: seeks advice, direction, input from others
  • avoidant: delay or evade decision-making
  • spontaneous: impulsive
  • fatalistic: “whatever will be, will be”
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42
Q

Documentation

A
  • ensures best possible care for individual and family
  • documents events of patient visit
  • facilitates communication among healthcare providers
  • examples: chart note, patient letter, physician/consult letter
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43
Q

Attending Behaviors

A
  • employing active listening and interviewing skills to identify, assess, and empathically respond to stated and emerging concerns
  • stem from Carl Rogers’ tenets of unconditional positive regard, genuineness, and empathy
  • behaviors include: eye contact, vocal quality, body language, distance
44
Q

Core Values in Genetic Counseling

A
  • respect: acceptance of clients
  • genuineness: being self, congruence
  • empathy: ability to accurately understand client’s experience and to communicate this understanding
45
Q

Non-Directiveness

A
  • explaining facts as clearly as possible, giving client accurate information regarding options in a way in which they can understand, with ultimate goal of allowing clients to make up own minds
  • procedures aimed at promoting autonomy and self-directedness of client
46
Q

Value Free Language

A

handicapped parking vs accessible parking

47
Q

Narrative Medicine

A
  • medicine practiced with skills of recognizing, absorbing, interpreting, and being moved by stories of illness
  • taking time to hear patient’s story, listening without interruption or analysis
48
Q

Client Transference

A
  • unconscious way that client relates to genetic counselor based on their history of relating to others
  • often clients’ reactions do not match situation and may be overreaction
49
Q

Counselor Countertransference

A
  • unconscious ways of relating to clients based on counselor’s history of relating to others
  • counselor can overidentify or disidentify with client, may not have empathic response or have overly emotional response
50
Q

Associative Countertransference

A

counselor shifts focus from client to own personal reaction

51
Q

Projective Countertransference

A

counselor has misperception that they understand exactly what client going through because they’ve had a similar experience

52
Q

Identifying Countertransference

A
  • becoming overly involved with client
  • dreading session or being too eager to see client again
  • having strong feelings about client
  • having rescuer fantasies that you’ll be able to get through to client where others have failed
53
Q

Self-Disclosure

A
  • counselor’s communication to client information about themselves
  • may be personal or professional
54
Q

Advanced Empathy

A

counselor’s response goes beyond what client has expressed and includes new insights into their thoughts and behaviors

55
Q

Confrontation

A

technique use to directly challenge client’s view of themselves and their situation to see them differently

56
Q

Behaviors to Confront

A

ambivalence, avoidance, distortions, evasions, non-verbal contradictions, smoke screens

57
Q

Guilt

A

feeling of responsibility or remorse for some offense, crime, wrongdoing whether real or imagined

58
Q

Defense Reactions to Guilt

A
  • repression: personal responsibility may be forgotten
  • intellectualization and rationalization
  • isolate or separate feelings
59
Q

Guilt-Relieving Strategies

A
  • authority: telling patients they’re without guilt
  • normalization
  • reframing
  • limiting liability: “you are responsible for a, but not for b”
60
Q

Shame

A
  • painful feeling arising from consciousness of something dishonorable, improper, ridiculous done by onself or another
  • often perception of how others will think/feel about you
61
Q

Shame-Relieving Strategies

A
  • develop working alliance
  • evoke feeling
  • accentuate positive
  • bolstering ego
62
Q

Models of Risk Communication

A
  • Riskiness of the Gamble
  • Embodied Knowledge
  • Adapting the Message
  • Engagement
  • Experiential Knowledge
63
Q

Riskiness of the Gamble

A
  • used for parents at increased risk for affected child
  • risk of having a child is gamble
  • risk is combination of probability (uncertainty) and adversity
  • riskiness of gamble is determined by magnitude of probability and level of adversity
  • factors influence judgment of adversity
  • amount, consistency and clarity of information about factors will influence judgment of adversity
64
Q

Embodied Knowledge

A
  • used for prenatal diagnosis clients
  • women create embodied knowledge by negotiating with biomedical information, transforming it through identifiable processes, and integrating it with their personal beliefs and experiences
  • decisions based on embodied knowledge
65
Q

Adapting the Message

A
  • used for individuals at increased risk for cancer
  • formulating effective risk message begins by characterizing information needs of intended audience and what recipients currently believe
  • message should focus on critical facts worth knowing and facts need to be transmitted in credible, comprehensible way
  • resulting communication should be tested and process continued until audience members experience no more than acceptable level of misunderstanding
66
Q

Engagement

A
  • used for counselees having genetic testing for HNPCC
  • reflects cognitive and emotional involvement with cancer risk shown by counselees
  • counselees demonstrate gradient from engagement to disengagement that can explain variations in approaches and reactions to predictive genetic testing
  • degree of engagement predicts risk perception and is influenced by social factors and psychological factors that facilitate/block process of engaging with cancer risk
  • engagement fluctuates with time for same client
  • client intensely engaged with risk for developing cancer adjust better to positive test result than those partially engaged
67
Q

Experiential Knowledge

A
  • used for individuals having genetic testing for HBOC
  • experiential knowledge composed of empathetic knowledge, derived from connectedness to and knowledge of other family members’ experiences, and embodied knowledge, which refers to subjective knowledge derived from bodily experience
  • integral to participants’ understanding and perception of cancer risk
68
Q

6 Steps to Breaking Bad News

A
  • plan
  • assess what is known
  • assess what is wanted
  • give a warning
  • share the news
  • respond to the reaction
69
Q

Crisis

A

stressful event that threatens an individual’s psychological equilibrium to an extent that overwhelms the normal coping responses

70
Q

Discrimination Model of Supervision

A
  • based on teaching, consultation, counseling, and evaluating roles a GC takes on
71
Q

Developmental Model of Supervision

A
  • supervisees at different stages of training have different characteristics and need different types of supervision/feedback
  • considers experience level, dependence on supervisor/patient, anxiety, motivation, personal responsibility, professional self-concept, supervision needs, and clarity of supervision goals
72
Q

Reciprocal Engagement Model of Supervision

A
  • learning and applying genetic information are key
  • student autonomy must be supported
  • students are capable
  • students emotions matter
  • relationship is integral to genetic counseling supervision
  • supervision outcomes: student understands and applies information to independently provide effective services, develop professionally, engage in self-reflective practice
73
Q

Teaching Role

A
  • primary interaction between supervisor and student is instruction with emphasis on guidance
  • focus on development of student’s skills
74
Q

Consultation Role

A
  • interaction between supervisor and student is collaborative
  • focus on student’s patients
75
Q

Counseling Role

A
  • interaction between supervisor and student is one of exploration
  • focus is promoting self-awareness and growth
76
Q

Evaluation Role

A
  • interaction between supervisor and student is critiquing and feedback giving
  • focus on accountability
77
Q

Supervision Challenges

A
  • time
  • multiple roles
  • confidentiality
  • unconscious dynamics
  • problematic performance
  • personality/style differences
78
Q

Interruptions to Working Alliance

A
  • transference
  • countertransference
  • empathic break
79
Q

Empathic Break

A

shift/change in interpersonal dynamics; loss of focus that signals loss/disruption in empathic connection

80
Q

Models of Disease Perception

A
  • biomedical model
  • holistic model
  • magico-religious model
81
Q

Biomedical Model

A

clear cause and effect relationship exists between all natural phenomena

82
Q

Holistic Model

A

people assume and seek to maintain balance/harmony between human beings and their physical, social, and spiritual environment; illnesses seen as brokenness in harmony/balance

83
Q

Magico-Religious Model

A

people see themselves and environment surrounded by supernatural powers on whom they depend for daily life and existence and with whom have contact through meditation/prayer/dreams/visions; illnesses believed to be punishments and tend to create deep sense of shame

84
Q

Patient Coping Styles

A

confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, plan, positive reappraisal

85
Q

Confronting

A

trying to change opinion of person in charge

86
Q

Distancing

A

going on as if nothing happened

87
Q

Self-Controlling

A

keeping feelings to oneself

88
Q

Seeking Social Support

A

engaging in conversation in hope of learning more

89
Q

Accepting Responsibility

A

criticizing oneself

90
Q

Escape-Avoidance

A

hoping for a miracle

91
Q

Plan

A

identifying and following an action plan

92
Q

Positive Reappraisal

A

identifying existing or potential positive outcomes

93
Q

Defense Mechanisms

A

denial, displacement, identification, intellectualization, projection, rationalization, regression, repression, undoing, sublimation, reaction formation

94
Q

Denial

A

rejecting the possibility that an event happened

95
Q

Displacement

A

shifting feelings from original things to something else

96
Q

Identification

A

assume attitude/behavior of idealized person

97
Q

Intellectualization

A

no feelings/emotions, abstract, want numbers and facts, can’t deal with it on an emotional level

98
Q

Projection

A

blaming other people for their difficult experiences

99
Q

Rationalization

A

justification of a statement with plausible statements

100
Q

Repression

A

putting intolerable thoughts and feelings out of ones mind, pushing them down

101
Q

Regression

A

reverting to less developmentally mature behavior

102
Q

Undoing

A

cancelling out distressing experience with a reverse action, making sure it doesn’t happen again

103
Q

Sublimation

A

wishes/attitudes/thoughts that are deemed unacceptable lead to channeling energy into something more socially acceptable

104
Q

Reaction Formation

A

action/emotion opposite of the way you feel

105
Q

Reaction Formation

A

action/emotion opposite of the way you feel

106
Q

Compassion Fatigue

A
  • lacking emotional strength, loss of energy
  • reduced capacity to provide empathy
  • function of bearing witness to suffering of others
107
Q

Burnout

A
  • prolonged exposure to demanding interpersonal situations leads to emotional exhaustion, depersonalization, reduced personal accomplishment