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