Genetic Counseling Practice Flashcards
History of Genetic Counseling
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
Sheldon Reed’s 3 Requirements of Genetic Counseling
- knowledge of human genetics
- teach and provide genetic information to full extent known
- respect for sensitivities, attitudes, and reactions of clients
Case Preparation
- 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
Contracting
- 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
Family History
- 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
Medical History
- 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
Patient Education
- 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
Risk Assessment
- centers on genetic condition, differentials, impact of condition, symptoms, management, impact for other relatives
Influences on Perception of Risk
- 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
Anchoring
bias introduced by first concept or risk figured introduced
Cognitive and Emotional Factors
individual factors such as optimism v pessimism, attitudes toward taking risks, preference for numerical format
Prior Beliefs
client beliefs about level of risk
Availability
prior experiences of client
Representativeness
inference from small sample to larger group
Complexity
complexity of risk figures
Uncertainty
uncertainty associated with risk figure
Math Ability
ability to understand numerical values and probability
Competing Values
competing values and responsibilities
Consequences
range of consequences for specific client
Binarization
tendency to view risk in two categories (will occur/will not occur)
Need for Uncertainty Reduction
emotional need to reduce uncertainty
Risk v Burden
concept of risk v burden in light of concepts of uncertainty and desirability
Literacy
- 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
Risk Communication
- numbers
- negative framing, positive framing, balanced presentation of risks
- contextualize risk
Risk Uncertainty
- related to outcomes such as coping, decision-making, adaptation, quality of life
- may be perceived as threat or opportunity
Risk Counseling
- affective forecasting: people reach unjustified conclusions about own emotional responses to future events
- empathic forecasting: people overestimate others’ affective experience
Psychosocial Concerns in Genetic Counseling
uncertainty, stress, anxiety, frustration, threat, injury, loss, grief, guilt, shame, stigma, coping, adaptation
Teaching and Counseling Model
- 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
Patient-Centered Counseling Model
- unconditional positive regard, genuineness, empathy
- self-actualization tendency
- patient-centered approach
- key tenets: dignity, respect, information sharing, active participation, collaboration
Reciprocal Engagement Model
- 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
Psychotherapeutic Model
- 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
Counseling Skills
- active listening, observing, attending
- summarization
- reinforcement
- paraphrasing and reflection
- normalization
- challenging and confronting
- empathy
- questioning
- clarification and concreteness
- anticipatory guidance
- self-disclosure
- silence
Questioning
- 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
Rephrasing
stating in your own words what client told you to demonstrate listening and comprehension
Reflecting
repeating last phrase of client’s statement in form of question to encourage further exploration of topic
Redirecting
used to manage rate of info exchange by directing introduction and flow of topics or refocusing discussion
Promoting Shared Language
mirroring client’s language/communication style to increase empathetic connection
Silence
used to create reflection time for what has been said, to formulate what to say next, or to gain composure
Anticipatory Guidance
- 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
Decision-Making Process
- 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
Decision-Making Styles
- 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”
Documentation
- 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
Attending Behaviors
- 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
Core Values in Genetic Counseling
- respect: acceptance of clients
- genuineness: being self, congruence
- empathy: ability to accurately understand client’s experience and to communicate this understanding
Non-Directiveness
- 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
Value Free Language
handicapped parking vs accessible parking
Narrative Medicine
- 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
Client Transference
- 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
Counselor Countertransference
- 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
Associative Countertransference
counselor shifts focus from client to own personal reaction
Projective Countertransference
counselor has misperception that they understand exactly what client going through because they’ve had a similar experience
Identifying Countertransference
- 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
Self-Disclosure
- counselor’s communication to client information about themselves
- may be personal or professional
Advanced Empathy
counselor’s response goes beyond what client has expressed and includes new insights into their thoughts and behaviors
Confrontation
technique use to directly challenge client’s view of themselves and their situation to see them differently
Behaviors to Confront
ambivalence, avoidance, distortions, evasions, non-verbal contradictions, smoke screens
Guilt
feeling of responsibility or remorse for some offense, crime, wrongdoing whether real or imagined
Defense Reactions to Guilt
- repression: personal responsibility may be forgotten
- intellectualization and rationalization
- isolate or separate feelings
Guilt-Relieving Strategies
- authority: telling patients they’re without guilt
- normalization
- reframing
- limiting liability: “you are responsible for a, but not for b”
Shame
- 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
Shame-Relieving Strategies
- develop working alliance
- evoke feeling
- accentuate positive
- bolstering ego
Models of Risk Communication
- Riskiness of the Gamble
- Embodied Knowledge
- Adapting the Message
- Engagement
- Experiential Knowledge
Riskiness of the Gamble
- 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
Embodied Knowledge
- 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
Adapting the Message
- 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
Engagement
- 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
Experiential Knowledge
- 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
6 Steps to Breaking Bad News
- plan
- assess what is known
- assess what is wanted
- give a warning
- share the news
- respond to the reaction
Crisis
stressful event that threatens an individual’s psychological equilibrium to an extent that overwhelms the normal coping responses
Discrimination Model of Supervision
- based on teaching, consultation, counseling, and evaluating roles a GC takes on
Developmental Model of Supervision
- 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
Reciprocal Engagement Model of Supervision
- 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
Teaching Role
- primary interaction between supervisor and student is instruction with emphasis on guidance
- focus on development of student’s skills
Consultation Role
- interaction between supervisor and student is collaborative
- focus on student’s patients
Counseling Role
- interaction between supervisor and student is one of exploration
- focus is promoting self-awareness and growth
Evaluation Role
- interaction between supervisor and student is critiquing and feedback giving
- focus on accountability
Supervision Challenges
- time
- multiple roles
- confidentiality
- unconscious dynamics
- problematic performance
- personality/style differences
Interruptions to Working Alliance
- transference
- countertransference
- empathic break
Empathic Break
shift/change in interpersonal dynamics; loss of focus that signals loss/disruption in empathic connection
Models of Disease Perception
- biomedical model
- holistic model
- magico-religious model
Biomedical Model
clear cause and effect relationship exists between all natural phenomena
Holistic Model
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
Magico-Religious Model
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
Patient Coping Styles
confronting, distancing, self-controlling, seeking social support, accepting responsibility, escape-avoidance, plan, positive reappraisal
Confronting
trying to change opinion of person in charge
Distancing
going on as if nothing happened
Self-Controlling
keeping feelings to oneself
Seeking Social Support
engaging in conversation in hope of learning more
Accepting Responsibility
criticizing oneself
Escape-Avoidance
hoping for a miracle
Plan
identifying and following an action plan
Positive Reappraisal
identifying existing or potential positive outcomes
Defense Mechanisms
denial, displacement, identification, intellectualization, projection, rationalization, regression, repression, undoing, sublimation, reaction formation
Denial
rejecting the possibility that an event happened
Displacement
shifting feelings from original things to something else
Identification
assume attitude/behavior of idealized person
Intellectualization
no feelings/emotions, abstract, want numbers and facts, can’t deal with it on an emotional level
Projection
blaming other people for their difficult experiences
Rationalization
justification of a statement with plausible statements
Repression
putting intolerable thoughts and feelings out of ones mind, pushing them down
Regression
reverting to less developmentally mature behavior
Undoing
cancelling out distressing experience with a reverse action, making sure it doesn’t happen again
Sublimation
wishes/attitudes/thoughts that are deemed unacceptable lead to channeling energy into something more socially acceptable
Reaction Formation
action/emotion opposite of the way you feel
Reaction Formation
action/emotion opposite of the way you feel
Compassion Fatigue
- lacking emotional strength, loss of energy
- reduced capacity to provide empathy
- function of bearing witness to suffering of others
Burnout
- prolonged exposure to demanding interpersonal situations leads to emotional exhaustion, depersonalization, reduced personal accomplishment
