Comprehensive Guide to Genetic Counseling and Ethical Principles

Reciprocal engagement model (REM)

A patient-centered, evidence-based framework established to guide clinical practice through a bidirectional relationship between counselor and patient.

Congruence

The match between the counselor's inner process and the response.

Empathy

The ability to accurately understand the client's experience as if it were your own and to communicate this understanding to the client.

Attending behaviors

Head nodding, smiling, and facing the patient.

Questioning

The act of asking questions to gather information.

Open questioning

Invites broad responses.

Focused questioning

Guides response toward specific circumstances.

Close ended questioning

Asks for yes/no answers or for specific details; does not encourage elaboration.

Rephrasing

Restate your understanding of what the client has said.

Reflecting

Involves repeating the last phrase of a patient statement in the form of a question to encourage further exploration of the topic.

Redirecting

Technique used by the GC to manage the rate of information exchange to direct the introduction and flow of topics or to refocus the discussion.

Promoting Shared Language

Mirroring patients' language or communication style including word usage, speaking tempo, and the use of colloquial terms.

Silence

Shows respect for a patient story by pausing to take it in rather than rushing to comment.

People first language

"The child with cystic fibrosis" as opposed to "the cystic fibrosis child."

Variable expressivity

The range of signs and symptoms that can occur in different individuals with the same genetic condition.

Incomplete penetrance

Occurs when individuals carry a specific gene mutation associated with a disease but do not develop the corresponding, expected clinical symptoms.

GeneReviews

Expert authored, peer reviewed summaries of genetic conditions including clinical features, diagnostic criteria, and more.

GeneTests

International directory of laboratories offering clinical and research genetic testing, searchable by genetic condition, gene, protein, and clinical feature.

GeneClinics

Directory of national and international genetics clinics searchable by state, zip code, country, and services.

Online Mendelian Inheritance in Man (OMIM)

Comprehensive online database of genetic conditions, their patterns of inheritance, and a compendium of human genes.

Bayesian Analysis

A calculation that takes into account the patient's baseline risk and modifies it based on age, clinical status, family history, or test results.

Confronting

Trying to change the opinion of the person in charge.

Distancing

Going on as if nothing happened.

Self-controlling

Keeping feelings to oneself.

Seeking social support

Engaging in conversation in the 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.

Self psychology

Psychological challenges that face us can be traced back to self-object experiences.

Self in Relation Theory

Development of self emerges from relational interaction with early caregivers and later with others in adult life.

Family System Theories: Strategic Approach

This approach finds its roots in the work of Milton H. Erickson and Jay Haley, using directive therapeutic interventions with families.

Family System Theories: Structural Approach

Focuses on family structure as the key organizing tenet of functionality and essential to the well-being of family members.

Family System Theories: Multigenerational Analysis

Interlocking concepts that include differentiation of the self, family dynamics, and emotions.

Family Systems-Illness Model

Provides a perspective on the interactive processes of psychosocial demand of the illness, family beliefs, and family functioning.

Family Systems Genetic Illness Model

Illness model expanded to consider the unique challenges presented by genetics and genomic conditions.

Transference

Ubiquitous phenomenon in which one brings old patterns of expectation to new situations.

Countertransference

A counselor's reaction to a counselee's story, her defenses, and emotions.

Associative Countertransference

Occurs when a counselor is carried into their 'inner self' when a patient shares an experience.

Projective Countertransference

Type of countertransference that occurs when a counselor has made assumptions about the experience of the patient.

Empathetic Break

A shift or change in the interpersonal dynamics that usually signals a disruption or loss of empathic connection.

Listen history/narrative model

The counselor is both the interviewer and the listener, and the counselee is both the correspondent and the narrator.

Mutual participation model

Premised on the idea that the counselor and the counselee have approximately equal power as adults.

Proneness

The lay beliefs about inheritance and the nature and extent to which people feel prone to a genetic disease.

Health Literacy

Represents the cognitive and social skills which determine the motivation and ability of individuals to gain access to, understand, and use information.

Health Belief Model

This model adapts theory from the behavioral sciences to health problems, explaining and predicting health-related behavior.

Self Efficacy

Refers to the confidence that a person will have the ability to take action.

Anchoring

Bias introduced by the first concept or risk figure introduced.

Cognitive and emotional factors

Individual factors such as optimism vs. pessimism, attitudes toward taking risks.

Prior Beliefs

Client beliefs about level of risk.

Availability

Prior experiences of the patient.

Representativeness

Inference from small sample to larger group.

Complexity

Complexity of risk figures.

Uncertainty

Associated with the risk figure, e.g., you mean I could get mom's mutation and never have cancer!

Math Ability

Ability to understand numerical values and probability, e.g., since I have 2 children with it, then I should have 2 without it, right?

Competing Values

E.g., I don't feel like I could lose another baby again, but I've always wanted a big family.

Consequences

E.g., that's what is so hard about this decision. We know we don't want to bring a boy into the world with problems like my nephew with Fragile X, but we wouldn't be sure how bad it would be.

Binarization

Tendency to view risk in two categories (event will occur or not occur), e.g., well I had a child with OI before, and my risk was much lower. To me, it seems like 50-50. Either you have it or you don't.

Need for Uncertainty Reduction

E.g., I just want to know. I'm so sick of wondering will I have it or not? Nothing could be worse than that!

Risk vs Burden

E.g., well I know the risk is pretty high. But I've seen my mom handle it, and I think our family did pretty well.

Embodied knowledge

Knowledge is created by negotiating with biomedical information, transforming it through identifiable processes, and integrating it with personal beliefs and experiences.

Heuristic-systematic model

Effortful, systemic information processing is conducive to informed decision making and improved understanding of risk information.

Riskiness of the Gamble

Model of risk communication used with parents at increased risk for an affected child and is determined by magnitude of probability and level of adversity.

Major anomalies

Defined as anomalies or malformations that create significant medical problems for the patient or that require specific surgical or medical management.

Minor anomalies

Often described as features that vary from those most commonly seen in the normal population but that, in and of themselves, do not cause increased morbidity.

Syndrome

Well-characterized constellation of major and minor anomalies occurring together in a predictable fashion, presumable due to a single complex underlying etiology that may be monogenic, chromosomal, mitochondrial, or teratogenic in origin.

Association

Group of anomalies that occur more frequently together than would be expected by chance alone but that lack a predictable pattern of recognition or suspected unified underlying etiology.

Sequence

Group of related anomalies that generally stem from a single initial major anomaly that affects the development of other tissues or structures.

Field Defect

Related malformations in a particular region and sometimes is used interchangeably with sequence.

Deformation

Caused by an abnormal external force acting on the fetus during in utero development that results in abnormal growth or formation of the fetal structure.

Disruption

Occurs when normal growth of a fetal structure is halted prematurely.

Malformation

Signifies that fetal growth and development did not proceed normally because of underlying genetic, epigenetic, or environmental factors that altered development.

Dysplasia

Occurs when the intrinsic cellular architecture of a tissue is not normally maintained throughout growth and development.

Predictive Testing

Offered to asymptomatic individuals with a family history of a genetic disorder and a potential risk of eventually developing the disorder.

Presymptomatic Testing

Testing of an asymptomatic individual in whom the discovery of a gene mutation indicates certain development of findings related to a specific diagnosis at some future point.

Pharmacogenetic Testing

Used to identify potential interaction of an individual's genetics makeup with a drug or class of drugs that predict drug effects.

Prognostic Testing

Used to predict the probable outcome or clinical course of a disease or the change of recovery.

Analytical validity

The ability of the test to accurately measure the substance being measured by the test.

Analytical accuracy

The degree of agreement of the test result with the true value of the thing being analyzed.

Analytical Precision

The agreement between measurements or reproducibility.

Analytical Sensitivity

Ability of the test to detect and analyze and also includes the lower limit of detection.

Analytical Specificity

Ability of the test to detect only the analyte of interest; the proportion of negative results given that the analyte is not there.

Clinical validity

The ability of the test to predict the presence of the associated disorder or phenotype.

Clinical sensitivity

The ability of the test to detect disease given that the disease is present.

Clinical specificity

The ability of the test to discriminate between those with suspected phenotype or disease and those without it.

Clinical utility

The ability of the test to affect positive outcomes, that is to detect and assist in managing the disease, to improve treatment effectiveness, and/or improve the quality of life of affected individuals.

Clinical positive predictive value

The proportion of positive results amongst all the individuals who have the disease.

Clinical negative predictive value

The proportion of negative test results amongst all of the individuals that are unaffected.

Population data

Provides the opportunity to calculate the frequency or number of times a variant is observed in a given population.

Genetic Information Non-Discrimination Act

U.S. federal law prohibiting discrimination in health insurance and employment based on genetic information.

The Affordable Care Act

A comprehensive health care reform law aimed at increasing access to affordable health insurance, expanding Medicaid, and supporting innovative medical care to lower costs.

The 21st Century Cures Act

Accelerate the research, development, and delivery of medical treatments, while improving health IT interoperability and patient access to records.

Access to Genetic Counselor Services Act

Proposed federal legislation designed to recognize licensed genetic counselors as Medicare providers, allowing them to directly bill Medicare.

Conscientious objection

Refusal to perform a legal, professional, or military duty due to deeply held personal, ethical, or religious beliefs.

Beneficence

Do good. May include clinical and personal utility among other things.

Non-maleficence

Avoid/minimize harm.

Autonomy

Respect for persons and for self-determination.

Justice

Treat a patient fairly, equitably, and appropriately.

Veracity

Honesty and truthfulness.

Fidelity

Do as one says they will do/trustworthiness.