Genetic Counseling: Key Concepts, History, and Communication Strategies

Who coined the term "genetic counseling"?

Sheldon Reed (1947)

Who introduced the psychosocial perspective?

Seymour Kessler

What does "geneticization" mean and who coined it?

Reducing people to their genetics; Abby Lippman

What is the psychosocial perspective?

views the practice not merely as the medical transfer of information, but as a "kind of psychotherapeutic encounter" with significant psychological dimensions

patient-oriented vs. content-oriented

What organization accredits GC programs?

ACGC

What's the difference between certification & licensure?

Certification = competency; Licensure = legal right to practice

Name three NSGC Scope of Practice responsibilities.

Evaluate family/medical history, coordinate tests, counsel, connect to resources.

What do PBCs represent?

Minimal skills required for all GCs to practice independently.

What are the "guardrails" of GC practice?

NSGC Code of Ethics, Practice Guidelines, Practice Resources.

Informed consent = ?

Understanding test, risks, benefits, limitations → voluntary decision.

Why avoid "risk" language?

Has negative connotation; use chance or probability instead.

Five decision-making styles?

Rational, Intuitive, Dependent, Spontaneous, Avoidant

components influencing perception of risk?

1. numeric probability

2. context

2. nature/severity

Factors influencing perception of risk?

Anxiety, culture, religion, knowledge, social context.

Traits of an excellent educator?

Expertise, Empathy, Enthusiasm, Clarity, and practice

3 communication tips for patients?

Avoid jargon, encourage teach-back, summarize at end.

Cognitive vs Psychosocial communication difference?

Cognitive = info clarity; Psychosocial = empathy & rapport.

Equity vs Equality?

Equity = fairness (adjusted support); Equality = same for all.

Eugenics Era (1940s-1979):

Mandated sterilization, heredity clinics, "genetic hygiene."

Sheldon Reed (1947): coined "genetic counseling," rejected eugenics.

Content-Oriented Era (1970s-1990s):

GC = educator role; focus on delivering genetic info, risk calculations.

Seymour Kessler: introduced psychosocial focus; GC as interaction with psychotherapeutic potential.

Psychosocial Era (1996-present):

Myriad's BRCA1/2 testing → shift beyond reproductive counseling.

Abby Lippman: coined "geneticization" (reducing identity to genes).

Non-directiveness questioned → emphasize autonomy, context, communication.

Diplomate

Certified GC.

Required for licensure in many states.

NSGC SCOPE OF PRACTICE

Evaluate family & medical history

Explain conditions & risks

Order/coordinate genetic testing

Interpret & communicate results

Counsel & guide on recurrence risk Connect to resources

Document findings

PRACTICE-BASED COMPETENCIES (PBCs)

Minimal skillset for all GCs (entry-level → independent practice).

Must demonstrate proficiency to graduate.

Set by ACGC.

include:

Genetics and genomics expertise

risk assessment

counseling

communication

research

healthcare systems

professional identity

Information Giving - 10 Core Skills:

Distill info

Avoid jargon

Person-first language

Start simple

Encourage 2-way exchange

Attend to cues

Teach-back

Correct errors

Give space

Summarize

Cognitive vs psychosocial communication

Cognitive: critical thinking, prioritizing, tailoring info, and avoiding jargon.

Psychosocial: rapport, empathy, trust, shared control, congruence.

Which body creates the PBC’s?

ABGC = american board of genetic counseling

GC central tenets of practice

1. Genetic info is key

2. relationship is integral

3. patient autonomy is supported

4. patients are resilient

5. patients emotions make a difference

reciprocal engagement model

Which era used the one drop rule?

Eugenics era - one drop rule used skin color to determine adoption placements

Robert Cooke

• 2 daughters w/ cri du chat (first ever dxd)

• advisor to JFK & Eunice Shiver/ helped establish programs to help kids w disabilities

• developed sweat test for CF

• helped establish head start program

Erik Erikson

• personality shaped by more than biology

• children are resilient

Race

interpretation of physical attributes

ethnicity

cultural and religious background

ancestory

individuals geographic lineage

Social determinants of health

1. education access and quality

2. economic stability

3. social and community context

4. healthcare access and quality

5. neighborhood and built environment

simile

something is like something

metaphor

something is something

analogy

builds on metaphor

A priori

risk before testing