Psychosocial Counseling (Green Book) Flashcards
What is the eugenic model of genetic counseling
Galton coined the term eugenics in 1885 to become the study of “agencies under social control that may improve or impair racial qualities of future generations, either physically or mentally
By 1926, 23 of the 48 US states had laws mandating sterilization of the “mentally defective” and over 6000 people had been sterilized
What is the Immigration Restriction Act of 1924
US instituted quotas to limit immigration of various “inferior” ethnic groups
These past abuses are at the heart of the nondirective approach today
What is the medical/preventive model of genetic counseling
By the mid 1940s, prevention had become the new focus of medicine and info about risks were based upon empirical observations
few dx tests available, no way to identify unaffected carriers of genetic conditions
Little to GCing except to offer sympathy and give the option of avoiding childbearing
What is the decision making model of genetic counseling
Discovery of cyto for T21, KS, Turner, and T18/13 as well as the carrier statuses for metabolic dz’s and hemoglobinopathies were used for prenatal dx
shifted to educating about risks, exploring decisions about reproduction, testing, and/or management based on pt’s beliefs/values
What is the psychotherapeutic model of genetic counseling
exploring emotional responses, goals, cultural/religious beliefs, etc. has become integral to GCing process
What does pt education entail (aka what is the bare minimum we need to discuss with a pt)
features, natural hx, and variability of the condition
its’ genetic basis
how it is dx/managed
chances it will occur/reoccur in a family
economic, social, and psychological impacts
resources available
strategies to fix/prevent the condition
relevant research
What is the genetic counselor’s scope of practice (via NSGC 2024)
- obtain and evaluate individual, family, and medical hx to determine risk for genetic/medical conditions and dz in a pt, their offspring, and other family members
- discuss the features, natural hx, means of dx, genetic and environmental factors, and management of risk for genetic/medical conditions and dz’s
- identify, order, and coordinate genetic tests and other dx studies as appropriate
- integrate genetic test results and other dx studies w personal and FH to assess and communicate risk factors for genetic conditions
- explain the clinical implications of genetic tests and other dx studies and their results
- evaluate the pt’s or family’s responses to the condition or recurrence risk and provide client-centered counseling and anticipatory guidance
- identify and utilize community resources that provide medical, educational, financial, and psychosocial support and advocacy
- provide written documentation of medical, genetic, and counseling info for families and HCPs
What can a pedigree help to reveal
reveals patients who require increased medical surveillance, preventive measures, or genetic counseling and testing referral
facilitates the client’s ability to use genetic info in a personally meaningful way that minimizes psychological distress and increases personal
Who is the consultand? The proband?
consultand: individual seeking genetic evaluation, counseling, or testing who may or may not be affected
proband: designates the affected family member who brings the family to medical attention
Describe the relationship between first cousins once removed? twice removed? second cousins once removed?
First cousins once removed: a pt’s 1st cousins’ child
First cousins twice removed: a pt’s 1st cousins’ grandchild
Second cousins once removed: relationship between a pt’s grandchild and the pt’s 1st cousins’ child
Describe three factors that need to be considered in the interpretation of FH data
Variable expressivity: disorders may present diversely within a familt (especially dominant ones), and in some instances the sum of the varying manifestations among multiple family members will suggest the dx for a particular disorder
reduced penetrance: identify at-risk relatives and recommend evaluation/genetic counseling since potential medical/health implications should be addressed
value of an extended negative hx: provides info that is often as impt as a hx of a genetic condition in a family- can reduce risks (think Bayes)
Who is Carl Rogers and what did he describe
Described key attributes to the GC session (respect, genuineness, and empathy) to allow the pts needs to be met
1. respect: acceptance of pts as they are (unconditional positive regard).Means to find a way to work with a pt even when you have differing values
2. genuineness: to be honest about one’s role, the limit of their knowledge
3. empathy: the ability to accurately understand the pt’s experiences as if it were your own to communicate this understanding to the pt (ex: reflection)
What is congruence?
the match between a counselor’s inner process and their outward response
What are examples of attending/physical attending behaviors?
Use of nonverbal behaviors more deliberately to communicate focus on the pt
head nodding, smiling, facing the pt
What are examples of active listening
indicating that you are paying attention
i see, uh huh, tell me more about, can you give me an example about what you mean by
Give an example of open-ended questioning. What goal does it achieve
invites broad responses
how are you feeling about the info that we just went over
Give an example of closed-ended questioning. What goal does it achieve
asks for yes/no answers or for specific details; does not encourage collaboration or elaboration
do you have children
Give an example of rephrasing. What goal does it achieve
stating in your own words what the pt has just told you. Demonstrates that the pt is being listened to and reinforces for the pt that the counselor has understood their experience
Pt: so i just don’t know if he is going to disappear or what
Counselor: so, you don’t think he’s very committed to the relationship?
Give an example of reflecting. What goal does it achieve
repeating the last phrase of a pt’s statement in the form of a question; encourages the pt to amplify their feelings or observations
pt: so that’s my decision- a mastectomy is better than cancer
counselor: better than cancer?
pt: well sure, that way i don’t have to worry any more
Give an example of redirecting. What goal does it achieve
direct the intro and flow of topics or to refocus the pt when they’ve gone off on a tangent
that’s an important issue, but first I’d like to get back to; we will get to that, but I think it would be helpful to first hear about
What is a psychological assessment in a counseling session
ongoing process that helps to identify a pt’s assets (strengths, resources)
may include: support systems, financial resources, educational level, emotional capability, etc.
What are the main components of case prep
obtain family/medical hx
seek info on the genetic condition
perform a risk assessment (for pt and other family members)
determine if lab studies, evals, and referrals are indicated
obtain info about support/advocacy groups
formulate a plan for the clinic visit
Who is authorized to release medical records to other providers or the pt themselves
pt
parent (if the pt is a minor)
legal guardian (need documentation of guardianship)
next of kin (if deceased)
What are the steps to a RA
- determine genetic etiology (Mendelian/not? consider heterogeneity, gonadal mosaicism, de novo changes)
- evaluate pedigree (consider penetrance, variable expressivity, anticipation, possibility of non-paternity)
- perform RA (derive risks on patterns of inheritance, obtain empiric risks if non-Mendelian)
- Perform Bayes analysis (if indicated)
What is one method to show chromosomal rearrangements to a pt
exchanging pen caps or rearranging letters to show an inversion
What should be DISCUSSed in pre-test counseling
D ecisions (will healthcare and life decisions change)
I nsurance implications
S ensitivity and other test parameters
C osts
U ses and limitations of test results
S ibs and other relatives at risk
S upportive resources
What is the bare minimum info you need when contacting a pt’s insurance company
pt’s policy info, test codes, and cost
Why is insurance coverage for genetic testing for Medicaid pts difficult
Generally labs will only accept Medicaid from pts who reside in their state (ex: if lab is in Michigan, only Michigan Medicaid pts will be covered)
When should DNA banking be considered
if the pt or family member has a genetic condition with a limited lifespan AND
genetic testing is unavailable
testing is available but has a low detection rate/is unaffordable
testing was done with no mutation identified
especially impt if pt is participating in research since provided samples will likely be inaccessible
What are the goals of rapport building
“what brings you into genetics”: know the pts circumstances and experience to form a relational context for the session
mutual expectations and goals
What is confidentiality and boundaries in the clinical setting
defined as safeguards that do not impinge on pt autonomy, self-expression, confidentiality, and physical safety
Who is Seymour Kessler and what did he describe
Defined nondirectiveness as “procedures aimed at promoting the autonomy and self-directedness of the client”
promoted when there is a decision-making climate through information, empathetic attachment, and professional guidance
Define empathy
the capacity to understand what another person is experiencing from w/in the other person’s frame of reference
it is essential to recognize a disruption or anticipate the impact of a counselor’s inattention, or the session may shift and empathetic attunement may be dropped
What are the disruptions that can occur in the working alliance
Transference, countertransference, empathetic break
Define transference
when a pt brings old patterns of expectations to new situations in attempt to create familiar structure for the event
challenge for the gc is not to unconsciously respond to the counselee’s transference
Define countertransference
counselor’s rxn to the counselee’s story, her defenses and emotions or transference
Define associative countertransference
when a pt shares an experience, loss, wish, or story that carries the counselor into their inner self
Define projection
type of countertransference in which a counselor has made assumptions about a pt’s experience based on personal, parallel experiences
Define projective identification
Occurs when a situation is extremely challenging to the counselee and they are not able to bring forward adequate psychological defenses to respond
Define empathetic break
a shift or change in the interpersonal dynamics or what feels like a loss of focus that usually signals a disruption or loss of an empathetic connection
Describe this psychologically challenging experience: denial
inability to acknowledge to oneself certain info or news, and is common when the info elicits shock and fear
Describe this psychologically challenging experience: anger
complex and universal experience that seeks to blame; in its most extreme form, there can be a wish to achieve revenge
Describe this psychologically challenging experience: guilt
pts who hold themselves responsible for what they perceive as a negative outcome; will try to correct this with self-blame, rationalizations, or other intellectualizations
Describe this psychologically challenging experience: shame
pts offer the opportunity to appreciate the events that have placed a “burden of the self”. Attempt to reduce the psychological challenges to the self by means of denial and withdrawal
Describe this psychologically challenging experience: grief and despair
common responses to loss or anticipated loss. Unexpected “loss” often results in feelings of shock, anger, yearning, and sadness which can be experienced in phases or concurrently
Describe this coping mechanism: confronting
trying to change the opinion of the person in charge
Describe this coping mechanism: distancing
going on as if nothing has happened
Describe this coping mechanism: self-controlling
keeping feelings to oneself
Describe this coping mechanism: seeking social support
engaging in conversation in the hope of learning more
Describe this coping mechanism: accepting responsibility
criticizing oneself
Describe this coping mechanism: escape-avoidance
hoping for a miracle
Describe this coping mechanism: planning
identifying and and following an action plan
Describe this coping mechanism: positive reappraisal
identifying existing or potential positive outcomes
What is the goal of discussing coping mechanisms with pts
asking the pt how they have managed other difficult situations brings awareness to the coping strategy since it may be required for assisting the counselee in the experience that triggered the response
What are the four tenets of gcing that ensure a safe psychological environment
the relationship must be integral to gcing
pt autonomy must be supported
pts are resilient
pt emotions make a difference
Who is Carl Rogers and what did he describe
pioneered a form of psychotherapy described as “nondirective”, “client-centered”, or “person centered”
argued that for change to occur, 3 attitudes need to exist in the therapeutic relationship
nondirective approach places a high value on the right of every individual to be psychologically independent and to maintain their psychological integrity
What are the three components of Carl Rogers theory on non-directiveness
- genuineness; 2. empathetic understanding; 3. unconditional positive regard
What are Heinz Kohut’s contributions to counseling
convinced that the early childhood relational context w the parent or caregiver forms the structure of the self
can be useful in anticipating responses to difficult news and eval of suicide ideation
offer evidence that the counselor’s commitment to empathetic listening and understanding can lead to a more effective experience
What are Miller’s contributions to counseling
argued that the development of self emerges from the relational interactions with early caregivers and later with others in adult life
de-emphasis of individuation and separation as psychological requirements for ego formation. The ability to respond to critical life events can be influenced by the level of connectedness w self and others
psychological vulnerabilities can be reduced through a process that explores connectedness through empathetic attunement and mutuality
What is the Family Systems theory
familial resilience theory is based on a deep conviction in the potential for family recovery and growth out of adversity
in genetics, often face resilience through adaptation, info, and family cohesion
Describe the three common family therapy models
- strategic approach: rooted in the work of Milton H Erickson and Jay Haley which states that the therapist determines corrective actions with the goal of changing behavior in the family system
- structural approach: Salvador Minuchin argued that families respond to stressors through the support of interfamilial boundaries and the arrangement of power
- Multigenerational approach: Murray Bowen described interlocking concepts that include differentiation of the self, family dynamics, and emotions
Describe the strategic approach in the family therapy model
rooted in the work of Milton H Erickson and Jay Haley which states that the therapist determines corrective actions with the goal of changing behavior in the family system
Describe the structural approach in the family therapy model
Salvador Minuchin argued that families respond to stressors through the support of interfamilial boundaries and the arrangement of power
Describe the multigenerational approach in the family therapy model
Murray Bowen described interlocking concepts that include differentiation of the self, family dynamics, and emotions
Describe the family systems illness model
provides perspective on the interactive processes of psychosocial demand of the illness, family beliefs, and family functioning
inclusion of belief systems is essential to effective coping and adaptation
What is NSGC’s definition of genetic counseling and what are the three components that are essential to expertise
the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to dz
- we know something beneficial, 2. we know it well, 3. we are prepared to convey it through an instructional process
What are the four characteristics of a skilled and motivated instructor according to Wlodkowski
expertise, empathy, enthusiasm, and clarity
Define empathy in terms of a characteristic of a skilled and motivated instructor
counselor must have realistic understanding of pts needs and expectations in addition to providing info in a context appropriate for the pt’s level of experience
Define enthusiasm in terms of a characteristic of a skilled and motivated instructor
demonstrates commitment to the topic w appropriate degrees of emotion, animation and energy, which in turn motivates the learner
Define clarity in terms of a characteristic of a skilled and motivated instructor
language used and how it’s organized to ensure that the counselee can comprehend the info being presented
What did Malcom Knowles suggest of adult education
the learner is self-directed and their experience becomes a resource to be used, valued, and accepted
Define proneness
lay beliefs about inheritance, and the nature and extent to which people feel prone to a genetic dz or feel that other FMs are subject to have or acquired the condition
How should risk be communicated to pts
everyday words like “chance” and “likelihood” are more neutral
risk presentation must be balanced, accurate, and tailored to the pt (give a risk for the chances the complication will occur and a risk for the chances the complication will not occur)
Define objective and subjective risk estimates
objective: understanding risk figures numerically
subjective: understanding risk figures in their own interpretations
Define the availability Heuristic, give an example
actual or dramatic instances of certain outcomes will increase the perceived likelihood that the outcome will occur
ex: if a pregnant person’s friend had a miscarriage after an invasive procedure, she is less likely to have a similar procedure done
Define representative Heuristic, give an example
a judgement of probability is made based on how well the items being judged match a prototype or idealized example
ex: probability of the birth of three girls in a row is lower than an assortment of girls + boys
What should providers do when giving bad news
parents prefer significantly more communication of info and feelings by their physician (physician to show caring, allow parents to talk, parents to show their own feelings)
What should be considered about pt recall
pts forget almost half of what they are told
pt recall best what they are told first and what consider important
important info should be “categorized” or highlighted verbally (ex: I am going to tell you what we think your son has and what tests we want to perform)
Define health literacy
represents the cognitive and social skills which determine the motivation and ability of individuals to gain access to, understand, and use info in ways that promote and maintain good health
many pt education materials need to be written at an appropriate reading level (8th grade) but are not
How could you use visual aids to show deletions, translocations, or duplications? genes strung together on the chromosome or of linked DNA bases?
colored markers with interchangeable caps
colored pipe cleaners, colored paper clips, beads on a string
fractions are preferred over %; pictures are most helpful
Describe the health belief model of health education and promotion
attempts to explain and predict health-related behavior in the context of certain belief patterns
takes into account a person’s perception of the susceptibility and severity of the condition and the practical and psychological costs and perceived barriers to taking a “health” action
Define self efficacy
confidence in a person’s ability to take action
Describe the stages of change model of health education and promotion
views behavior as a circular process in which people do not change chronic and habitual behaviors all at once, but continuously through a series of stages
precontemplation –> contemplation –> decision –> action –> maintenance
Describe the consumer information processing theory of health education and promotion
can be used to examine why people use or fail to use health information in their decision-making and hence can be instructional in the design and development of intervention strategies
Describe factors impacting risk communication
internalization and retention of info, overestimation of risk, perceptions of risk, preference for risk information, fear, anxiety, and uncertainty
What are are some factors that effect perceptions of risk
seriousness of disorder, beliefs about etiology, prognosis, and management, stress, familial experience with the condition, discussions in the genetic counseling session, level/accuracy of knowledge, personal attributes
What is the typical preference for giving risk information
risk in gambling odds (1 in X) resulted in the most accurate estimate of risk and the preferred method by women with an increased risk for breast cancer
Define the following factor that can influence perception of risk: anchoring
bias introduced by first concept or risk figure introduced
ex:
counselor: the risk of having another child with DS is low
client: so it won’t happen again?
counselor: the risk is only about 1%. how does that sound to you
client: well…low…i guess
Define the following factor that can influence perception of risk: cognitive and emotional factors
individual factors like optimism vs pessimism, attitudes toward taking risks, preference for numerical format
client: I’m not too worried about the result. I doubt that I have it
counselor: you sound optimistic. have you thought about how you would react if the test showed that you inherited the mutation that your mother has
Define the following factor that can influence perception of risk: prior beliefs
client beliefs about level of risk
counselor: now that we have a dx, we can tell you that the chance of Jamie’s condition happening again is 25%
client: wow, you’re kidding
counselor: it sounds like that surprised you. Is 25% lower or higher than you were thinking
client: well, my family doctor told me it’s one in a million! I think it’s probably lower than 25% and I’m not that worried
Define the following factor that can influence perception of risk: availability
prior experiences of a pt
client: what if I have a miscarriage? my neighbor had an amnio, and she miscarried one week later
counselor: it can really hit you hard when you know somebody that had a complication. Let’s talk a little about our overall experience at St. Mary’s
Define the following factor that can influence perception of risk: representativeness
interference from small sample to a larger group
client: I don’t seen how the risk can be 50%. In my family everybody has it!
counselor: let’s take a closer look. We know that 4 of the women in your parents’ generation had breast cancer, but we don’t really know about the men because they are unlikely to develop cancer if they inherit the mutation. One of your aunts died at a young age, so we also don’t know if she had the mutation. Since the women in your generation are young, we don’t know their experience. When we look at a whole group of families, we see that about 50% of people inherit BRCA mutations when their parent has a mutation. We think that having more than 50% in one family is just random chance. That’s why I think your chance is still 50%. I can see why you feel that the risk is higher. If your test results come back negative, do you think you’ll believe the result?
client: I…don’t know
Define the following factor that can influence perception of risk: complexity
complexity of risk figures
client: I’m confused. You said that my risk is 50% to have the mutation and 30% to develop cancer if I have it? How much should I worry about it?
counselor: Let’s take a look at it using some pictures. It may help you to visualize it better
Define the following factor that can influence perception of risk: competing values
competing values and responsibilities
client: I don’t feel like I could lose another baby like that again, but I’ve always wanted to have a big family
Define the following factor that can influence perception of risk: binarization
tendency to view risk in two categories (it will or will not occur)
counselor: the risk of having another child with OI is 5%. How does that number sound to you?
client: Well, it happened before and my risk was much lower. To me it seems like 50-50. Either you have it or you don’t
Define the following factor that can influence perception of risk: uncertainty
uncertainty associated with the risk figure
client: you mean I could get Mom’s mutation and never even have cancer!
Define the following factor that can influence perception of risk: math ability
ability to understand numerical values and probability
client: Since I have two children with it already, that means I should have two without it, right?
Define the following factor that can influence perception of risk: consequences
range of consequences for a specific client
counselor: we talked about the full range of fragile X syndrome and that it is hard to predict the symptoms for another baby
client: That’s what’s so hard about this decision. We know we don’t want to bring a boy into the world with problems like my nephew, but we wouldn’t be sure how bad it would be
Define the following factor that can influence perception of risk: need for uncertainty reduction
emotional need to reduce uncertainty
client: I just want to know. I’m so sick of wondering, will I have it or not? Nothing could be worse than that!
counselor: If you were to test positive, what do you think would change for you?
Define the following factor that can influence perception of risk: risk vs. burden
Concept of risk vs burden in light of the concepts of uncertainty and undesirability
counselor: it sounds like you don’t know what to do. How do you think your life would change if you had a child with hemophilia?
client: Well, I know the risk is pretty high. But I’ve seen how my mom handled it, and I think our family did pretty well
Describe the three principles of risk communication
- assess a priori beliefs, knowledge, preferences, expectations, anxiety, and coping strategies before formulating a risk communication plan
- prioritize info to be given. put info in context and use multiple communication strategies/formats
- f/u w materials (leaflets, personal letters). consider more than one meeting
How would you incorporate risk communication in a family
use a team approach to encourage the use of genetic services, identifying a family leader in the process
assess and use relational info to identify family members who may be influential and supportive to counseling and testing decisions, as well as persons who may be barriers to the diffusion of info
What are some factors that impact decision making
- the possibility of effective prevention, tx, or screening
- health beliefs (perceived risks, beliefs about etiology)
- characteristics of the counselee (age, coping mechanisms, etc.)
- concerns about potential risks
What is the decisional conflict scale
designed to measure the level of decisional conflict experienced by pts making health care decisions
What is non-directiveness? What does it accomplish?
procedures promoting the autonomy and self-directedness of the pt
aims to raise pt self esteem and leaves them w greater control over their lives/decision
is an ACTIVE process
What are some considerations that counselors need to make concerning the testing of children and young adults for late onset disorders OR carrier status of a recessive chromosomal disorder
- child loses their future autonomy as an adult to make their own informed decision
- child loses the right to confidentiality
- there is potential negative impact of testing and the test result on the child’s upbringing
What are the three most important reasons for recording medical info
- ensure the best care for the individual and family
- document events of outpt/inpt vist
- facilitate communication among HCPs
What are the federal and medicare/medicaid regulations for medical documentation
federal regulations require providers participating in medicare to ensure that medical records are “accurate, promptly completed, filed, retained, and are easily accessible”
regulations pertaining to medicare are developed by the CMS, which also dictates federal program requirements for Medicaid (often held as the standard for all healthcare providers and payers)
When should medical documentation occur?
must occur within 15d of hospital discharge per Medicare
changes after the initial documentation should be clear and legible
What are some recommendations for medical documentation
should be objective and factual. Preferable to be as brief as possible.
source and date of additional medical info should be documented
phrases such as “the pt denied” and “the pt reported” convey the pt was asked about an issue and a specific response was given
ages and years of birth only of FMs are not protected under HIPPA
What is the bare minimum documentation you need to disclose information in the medical records? If someone is deceased, what do you need?
authorization is adequate when pt completes a form with: identify info, specific info being requested, purpose in which the info may be disclosed, to whom the info is being sent, authorization expiration date (if applicable), pt’s signature
if the pt is deceased, letter of authority (given to the executor of a person’s estate by the probate court upon their death) AND the signed request is needed
What is a CPT code? What are the common ones GCs use?
describes type and duration of services provided. Published annually by the American Medical Association
For GCs, code is 96040; also can use 98966-98969 for telephone and online counseling sessions
What is a hospital rule about retaining records under Medicare requirements
all hospitals that participate in Medicare must retain records for a minimum of 5yrs
info containing tax/financial records should be retained a minimum of 3yrs for income tax audit purposes
What regulations do HCPs and other agencies that receive Medicaid/Medicare have to undergo regarding medical documentation
required to participate in external quality review programs by professional review organizations (PRO)
use medical documentation to determine if appropriate practice parameters were adhered to, or investigate fraudulent/abusive billing practices
What does the multicultural counseling approach entail
encourages immigrant groups to keep their traditions, even celebrate them and share them with others as a way of enriching society as a whole
Define cultural code
a set of values or beliefs and assumptions, notions that shape the way people from diverse cultures act and think, relate and communicate; what they consider right or wrong, good or bad, sacred or profane, important or unimportant
What is the biomedical model of medicine
illness and disabilities seen as the result of biophysical or mechanical causes
What is the macro-religious model of medicine
disease and disorders are a result of divine intervention, which can serve as a form of punishment or an act of grace, or acts of spiritual powers that seek to do harm
Define culture
a group of people’s total way of life: the way they act and think, organize themselves, relate and communicate, make or build things, express feelings and emotions, and respond to the world
remember: culture is learned and logical; we can use this to our advantage in a counseling session to gain insight into our pts values and beliefs
What are the four core American values that have been documented to have the greatest effect on the relationship btwn HCPs and pts from diverse backgrounds
- individualism
- egalitarianism
- time and task orientation
- masculinity
Describe individualism and how it relates to the medical system
disabilities and disorders are experienced as individual problems requiring individual action
Describe collectivism and how it relates to the medical system
decision making does not lie with the individual but with the group of which they are a part of
Describe egalitarianism and how it relates to the medical system
everyone should be tx the same and should have equal opportunities for achievements and success
Describe authoritarianism/hierarchical thinking and how it relates to the medical system
clear distinctions between higher and lower classes, between superior and inferior status or position
Describe reciprocity and how it relates to the medical system
ppl will respond to intimate questions only when the person asking them first shares some of their own experiences; common in authoritarian settings
What is the holistic model of medicine
people assume and seek to maintain a sense of balance or harmony between human beings and their physical, social, and spiritual environments
illnesses are seen and experienced as a brokenness in the harmony and balance between all things seen and unseen
Pts of other cultural backgrounds than their counselor have only ___% of effective communication
20-25
What are the three levels of communication? Define them
- cognitive level: primarily uses verbal, uses rational arguments, is based in facts, and appeals to people’s understanding and mental assent
- evaluative level: refers to the way in which pts evaluate their counselor (first impressions): their expertise, trustworthiness, and reliability
- Relational level: establish a bond with the pt
What are features of low context cultures
communication is direct and to the point, brief and focused
What are features of high context cultures
communication is indirect and implicit, people talk around the subject and embellish the point
What is identification
the willingness to put yourself in your pts’ shoes and walk in them for a while
Define morality
a community of people with common code of conduct, an agreed upon view of what is acceptable behavior and what behavior is not acceptable
the goal of moral behavior is to decrease the harms suffered by members of society
What are ethics
establishment of a set of guidelines for morally acceptable conduct within a theoretical framework
What are principles
source of guidelines for behavior. From principles, values are drawn and rules developed.
Define values
qualities that are considered good or priorities, and are desirable and important
Define rules
specific guides that must be followed at all times
promote and protect basic human interests, both individual and societal
Define ideals
goals with which we aspire
Define duties
behaviors that are defined by our professional role or social role
Define virtues
morally or socially desirable characteristics
Define rights
justified claims
Ethical theory: consequence based utilitarianism
promotion of happiness
actions that maximize good and promote the greatest amount of happiness > pain are acceptable actions
resolve dilemmas by looking at the consequences of doing or not doing an action
Ethical theory: virtue ethics
focuses on character traits/virtues a good person should have
resolve dilemmas by asking how a virtuous person would act in that situation
Ethical theory: principle based ethics
core principles of autonomy, justice, maleficence, and beneficence
resolve dilemmas by weighing competing principles, duties, and values
Ethical theory: ethic of care
focused on the humanistic virtues (sympathy, compassion, fidelity, discernment, love), those characteristics that are valued in interactive, intimate relationships
resolve dilemmas by promoting respect for equality while recognizing and valuing differences
Define beneficence. How does fidelity relate
promotion of personal well being in others
when benefits are balanced against harms and costs, the outcome should be a net benefit
provider and pt are assumed to have similar values and views
fidelity requires the provider not to withdraw from a pt’s care without notice to the pt, to submerge their own self-interests if they are in conflict with the pt’s (candor, loyalty, and integrity are derived from this principal
Define non-maleficence
restrictions on behavior as opposed to actions that promote behavior (do no harm)
typically raised by the use of people of subjects in research/testing experimental therapies
Define autonomy. What are the principles that are derived from this?
represents the individual’s personal rule of self, the need to remain free from controlling interference that may prevent an individual’s making of meaningful choices
truth telling, confidentiality, informed consent
Define truth telling in the context of autonomy
related to the obligations of fidelity and promise keeping that are inherent in the medical relationship; also pertains to the management/info that can affect one’s understanding/decision making
Define confidentiality in the context of autonomy
relates to the communication between people and the fact that a relationship exists between them
main difference between confidentiality and privacy: privacy relates to limited or restricted access to an INDIVIDUAL
confidentiality can be waived by the pt
Define informed consent in the context of autonomy
a pt’s autonomy is manifested in their right to make their own healthcare decisions including declining tx
the threshold element is competence, the capacity to make a rational choice
What are the elements of informed consent
- COMPETENCY
- info: amount and accuracy- disclosure of possible benefits/risks of an intervention, obligation to discuss available alternatives
- pt understanding- obligation of the provider to identify barriers of informed consent and overcome them
- consent, including voluntary authorization
Define justice
implies fairness, equitability, and appropriate tx. Four values are recognized as justice
1. equality: equal care for all
2. liberty: freedom of choice
3. excellence: best possible care for all
4. efficiency: containment of costs
What are four questions you should ask yourself to determine if a situation is ethical
Are the pts’s rights being protected and harm is not coming to the patient? (Beneficence)
Are we avoiding harming the pt or putting them at risk? (Nonmaleficence)
Are we respecting the pt’s right to be self-determining?(Autonomy)
Are we tx pts fairly, equitably, and appropriately? (Justice)
What is a code of ethics
the moral obligations deduced from the kinds of activity in which the members of the profession are engaged. An enforceable code lists those duties that are required, with penalties for failure to perform them
What are the goals of the NSGC code of ethics
does not put forth rules to follow but offers guides for the pursuit of the ideals, therefore is NOT an enforceable document
written from the ethic of care perspective, which is defined by interpersonal relationships
What is included in section 1 of the NSGC code of ethics
genetic counselors and themselves
value competence, integrity, veracity, dignity, and self-respect in themselves and others. Goals:
always be prepared, maintain current knowledge, standards of practice- legal docs/guidelines for pt expectations, accurately represent our training and skills to others, take care of oneself physically and mentally
What is included in section 2 of the NSGC code of ethics
GCs and their patients
value care and respect for the pt’s autonomy, individuality, welfare, and freedom
appropriate, efficient, and prompt services are necessary for the pt to be able to exercise their decision-making rights; honesty and candor necessitate self-awareness in terms of ethical and moral standards, confidentiality for the pt during the session and beyond; we need to be reminded that overcharging, providing unnecessary services, and profiting in any way from pt info or property is unacceptable
What is included in section 3 of the NSGC code of ethics
GCs and their collages
based on mutual respect, caring, cooperation, and support.
peer support is valuable for promoting relationships with others in the profession, respect for other professionals naturally leads to promotion of the goals of quality services, support and care about trainees, appropriate professional and personal boundaries must be recognized
What is included in section 4 of the NSGC code of ethics
GCs and society
interest and participation in activities that have the purpose of promoting the well-being of society and access to healthcare
need to keep up to date with the science of genetics, and with how, when, and where this information is presented to the public; encompasses the principle of Justice, work within the laws and regulations of society
What is the implications of violations on rights in terms of legal issues
rights can be violated or infringed upon
a violation is UNjustified while an infringement IS justified
What did the privacy act of 1974 establish
limits the disclosure of info obtained by employees of federal services, federal agencies, and government contractors
What did the rehabilitation act of 1973/civil rights statutes establish
prohibit the infringement of a person’s rights by private entities involved in employment, housing, or public accommodations on the basis of race or sex
What did the ADA of 1990 establish
adds disabilities to the characteristics described in the civil rights statues and extends it to cover private businesses
employers CANNOT take genetic info into account when making a job offer
What did HIPPA of 1996 establish?
prohibits group health plans from denying individuals coverage based on genetic info and using such info to justify charging such persons higher premiums
includes requirements for EMR transactions
GCs are “covered entities” under HIPPA
for areas regulated by both the federal and state governments, a state may be stricter than the federal government but not more lenient
When are parents allowed to make decisions for their children? When can they be superseded by HCPs?
since parents have direct sovereignty over minor children, they are entitled to make decisions on behalf of their offspring
a parent may consent to therapy or decline it, but CANNOT refuse life saving therapy for a child
How can the clinical diagnosis of Silver Russell syndrome be established
Must have at least four of the following clinical criteria, two of which must be relative macrocephaly at birth and frontal bossing/prominent forehead; other disorders with growth restriction must also be ruled out:
small for gestational age
postnatal growth failure (at age 24mo)
relative macrocephaly at birth
frontal bossing/prominent forehead
body asymmetry
feeding difficulties
How is the molecular diagnosis of Silver Russell syndrome established
abnormal methylation of chrom 11p15.5
Mat UPD of chrom 7, chrom 11, and chrom 16
Pathogenic mat GOF variants in CDKN1C
Pathogenic pat LOF variants in IGF2, PLAG1, or HMGA2
What are the tired approaches to testing for Silver Russell syndrome
first tier: methylation analysis of 11p15.5 imprinting control regions (ICR1/ICR2) (35-67%) and upd(7)mat SIMULTANEOUSLY (7-10%)
second tier: multigene panel including sequence analysis of IGF2, CDKN1C, PLAG1, HMGA2
Other: SNP CMA to identify chromosomal dels, dups, isodisomy; methylation analysis of chroms 11 and 16 to detect SRS due to upd(11)mat and upd(16)mat
Describe the growth, feeding, and gastro features seen in pts with Silver Russell syndrome
most children are born small for GA, rarely show significant catch-up growth
goals GH treatment improving growth velocity, body composition, psychomotor development, and appetite, as well as reducing the risk of hypoglycemia and optimizing overall linear growth
GH deficiency is not common, but tx should be indicated regardless of the presence or absence of GH deficiency
little subcutaneous fat, poor appetite, oral motor issues, and feeding disorders; at risk for hypoglycemia; GERD, esophagitis, oral aversion, vomiting, constipation, FTT
Describe the skeletal, craniofacial, dental, neurodevelopmental and GU features seen in pts with Silver Russell syndrome
limb length asymmetry, fifth finger clinodactyly or brachydactyly, scoliosis; monitor for signs of premature adrenarche, early and accelerated puberty, and insulin resistance
Pierre Robin sequence and cleft palate, bifid uvula; microdontia, high arched palate, dental crowding secondary to relative micrognathia, overbite and dental crowding
increased risk for developmental delays including motor, cognitive and speech delays
hypospadias and cryptorchidism in males; underdeveloped or absent vagina and uterus with normal appearance of the external genitalia in females
CHDs are uncommon- can be in the form of PDA, VSDs, TOF
What specialists should someone with Silver Russell syndrome be referred to
endocrinologist, gastroenterologist, dietician, clinical geneticist, craniofacial team, orthopedic surgeon, neurologist, speech language therapist, and psychologist
How should the manifestations of Silver Russell syndrome be tx
growth abnormalities: early referral to endo and consider GH therapy
hypoglycemia: frequent feeding, avoidance of prolonged fasting between feeds, monitor for urinary ketones
endocrine: personalized tx w GnRH for at least 2yrs in children w evidence of central puberty, can be considered to preserve adult height potential
GI/feeding difficulties: enteral feeding with gastrostomy or jejunostomy tube for extreme cases of feeding aversion and/or GERD
skeletal abnormalities: early referral to orthopedic sx for management of limb length discrepancy and scoliosis
craniofacial anomalies: early referral to craniofacial expert for severe micrognathia, cleft palate, and/or dental anomalies
GU anomalies: referral to urologist for children w hypospadias and/or cryptorchidism
What testing should be done on probands/parents with hypomethylation on ICR1 or CDKN1C/IGF2 PV for a pt for a accurate recurrence risk
Silver Russell syndrome
hypomethylation at ICR1 on pat chrom: SNP CMA to detect underlying CNVs, cyto analysis to detect larger dups in the 11p15.5 region; if genetic alteration identified in proband, parents should undergo same testing; sibs risk can be at high at 50% depending on fragment size
proband with CDKN1C/IGF2 PV: molecular genetic testing of the parents for PV identified in the proband FH may appear negative due to sex limited penetrance; 50%risk to sibs if mom has CDKN1C PV and 50% if dad has IGF2 PV
What is the recurrence risk for a proband with somatic mosaicism for upd(11)mat in the offspring
presumed to be low since imprint normally resets in the germline
What testing should be done on probands/parents with upd(7)mat or HMGA2/PLAG1 PV for a pt for a accurate recurrence risk
Silver Russell syndrome
most upd(7)mat is de novo although rarely there is a predisposing genetic alteration: CNV in the critical imprinted region (pat inherited del or mat inherited dup in 7q32, recurrence risk 50%) or a translocation involving chrom 7
proband should have SNP CMA/cyto analysis and if there is an alteration identified parents should have the same
Proband with PV in HMGA2/PLAG1 should have molecular testing with parents and if there is a del in HMGA2/PLAG1, do SNP CMA for proband and parents (recurrence risk is 50% for sibs)
What prenatal testing CANNOT be done for Silver Russel syndrome
reliable prenatal analysis for loss of paternal methylation at the 11p15.5 ICR1 H19/IGF2 region is not possible
What are the four elements that must be proven for malpractice? What is malpractice?
The misuse of information, failure to recognize a genetic disorder, misdx, ordering of a wrong test, not taking a FH) is a tort action
1. there was a provider-pt relationship and a DUTY owed by the defendant to the plaintiff
2. the defendant BREACHED that duty either by failure to act or deviation from the standard of care
3. the breach of the duty was the direct CAUSE of the harm suffered by the plaintiff
4. An actual INJURY (physical, financial, emotional) resulted, which can be compensated for by the courts
What ethical and legal concerns come with sex selection
American society for reproductive medicine relaxed its opposition to sperm-sorting if the technique is used for the purpose of family balancing (discourages the use of PGD for sex selection)
ACOG opposes providing sex selection for personal and family reasons bc the use could be seen as a form of sexism
What ethical and legal concerns come with presymptomatic testing in children
the testing of a child cannot be justified for disorders in which symptoms are rare in childhood and for which no tx is available
What ethical and legal concerns come with GINA/ADA
Included in the definition of disability under the ADA are ppl with a genetic predisposition and those who are asymptomatic carriers of a late-onset disorder
insurance companies are regulated by the states
What ethical and legal concerns come with the duty to warn 3rd parties
the duty to prevent harm may at times, limit the professional’s duty of confidentiality
in the infrequent circumstance that there will be great harm, a provider can override the pt’s confidentiality after 1st informing the pt
disclosing pt health info is now regulated by the privacy rule of HIPPA (obtaining pt consent for such disclosure is required, with only a very few specific exceptions)
What ethical and legal concerns come with unexpected findings
the first considerations include the relevance of the info to the pt’s situation and the consequences of the findings
arguments for disclosing incidental findings are based on the principle for respect for autonomy
ASHG 1996 recommended that FMs not be informed when nonpaternity is discovered unless paternity was the purpose of the testing. HOWEVER, facts relevant to medical decision making cannot be justifiably withheld
What ethical and legal concerns come with duty to recontact
usually the duty a professional owes a pt lasts as long as there is a need for the professional’s services (Ex: duration of an illness)
Bc the PCP has an ongoing relationship with the pt, he should be responsible for reminding the pt to keep in touch with a genetics HCP for changes in the field that may affect their care
not clear how far back in time the duty to recontact would apply
What are the goals for supervision
- promote professional development of student supervisors
- ensure continued provision of quality pt services
- serving a gate keeping function regarding those who enter the profession
helps students develop and gain increased awareness of ethical issues and their resolution, develop greater awareness of their professional blind spots, and become socialized to the profession
What is the point of goal setting
aims or expectations regarding the skills that a student is expected to achieve and provide a framework for supervision
What is the Discrimination model of classifying student skills
classifies student skills into four categories
1. process skills: “doing skills” that consist of the actual techniques and strategies used in a gc session
2. professional skills: “doing skills” that involve adherence to professional standards of behavior, including adherence to ethical standards of the profession
3. personalization skills: “feeling skills” that pertain to the internal, subjective rxns students have toward their pts, toward gcing, and toward their supervision relationships
4. conceptualization skills: “thinking skills” that involve cognitive process such as case analysis and pt conceptualization
What is Bloom’s taxonomy? Describe each level
consists of hierarchy of learning processes from basic memorization of facts to highly sophisticated critical thinking
Knowledge level: students repeat what they have learned from their classes
Comprehension level: students demonstrate their understanding of what generally is intended to accomplish in a gcing session and why it is important by explaining reasons for pointing out discrepancies to pts
Application level: students identify what might be appropriate for a particular type of pt and demonstrate in a role play how they would approach such a pt
Analysis level: students identify aspects of a pt’s situation they would want to challenge as well as factors that might promote or hinder a session with a pt
Synthesis level: students connect their responses to pt goals by articulating how a particular pt’s inconsistent behavior helps the pt make the best decision for themself
Eval level: students judge the effectiveness of their approaches to meet its intended goal for a given pt and provide evidence to support their assessment
Describe this supervisor-student role: the teaching role
primary interaction is instruction (demonstrating, explaining, and interpreting events from GC sessions)
focus on developing student’s skills as a GC
Describe this supervisor-student role: the consultation role
mutually agreed upon objectives, encourages the student to self-evaluate, focus of supervision is on the student’s pts
consultant acts as a facilitator who works with the consultee to determine effective planning and action
Describe this supervisor-student role: the counseling role
goal is to promote self-awareness and growth
supervisor assists the student to recognize developmental tasks and become aware of personal issues that may affect responses to pts
Describe this supervisor-student role: the evaluation role
primary goal is critiquing and feedback giving with a focus on accountability
What is evidence based medicine
an approach to healthcare that promotes the collection, interpretation, and integration of valid, important, and applicable pt-reported, clinician observed, and research-derived evidence
What are subjective experiences
one’s thinking is conditioned by one’s previous experiences, educational background, discipline of study, philosophy, and social heritage
What are objective experiences
in research, working to understand a topic in a way that does not introduce the researcher’s own interests and perspectives
should be reproducible with similar or same outcome
Describe the features of a qualitative study
aim: complete, detailed description
useful in early stages of project development
need to only roughly know what you’re looking for
design emerges as study unfolds
researcher= gathering data instrument
data= words, pictures, objects
richer data, more time consuming, less generalizable, researchers more subjectively immersed in subject matter
Describe the features of a quantitative study
aim: classification, counting, and construction of stat models to explain observations
useful in later stages of project
researcher knows what they are looking for
all aspects of study are designed before data are collected
uses questionnaires for numerical data
data are more efficient and more generalizable
researchers more objectively separated from subject matter
What is a human subject
any living individual or fetus about whom a research investigator obtains data via interaction or intervention
also includes human tissue
does NOT include deceased individuals and research on them –> NOT protected by IRB regulations
research conducted on individuals participating in public behavior is also not regulated by the IRB
IRB review process is geared toward minimizing potential risks and maximizing benefits
What are the categories for CEUs
Category 1: granted for programs with content targeted to GCs and pre-approved by NSGC
Category 2: available for programs approved by organizations other than NSGC for CEUs
ABGC will approve CEUs for supervision, publications, outreach, presentations, teaching, etc.
Describe the four main domains of genetic counseling skils
- communication skills: requires communication of complex, emotionally laden, and technical info
- critical thinking skills: major role of GCs is sifting through large amounts of info and resources and analyzing what info is most critical to the case
- interpersonal, counseling, and psychosocial assessment skills: using these skills in a meeting will enable one to have a better understanding of verbal and nonverbal cues that may impede communication or reaching an agreement
- professional ethics and values
