Genetic Counseling - IMIA

Genetic Counseling - IMIA

Genetic Counseling 101

Building Bridges with

Medical Interpreters


September 2010

Nancy Steinberg Warren, MS, CGC

JEMF Fellow

Learning Objectives

1. Participants will be able to discuss the process

of genetic counseling using a case example.

2. Participants will know where to find a genetic

counselor locally and nationally.

3. Participants will have educational resources to

enrich their understanding of concepts and

terminology in genetics and genetic


Workshop Format

• Description of the genetic counseling process,

using a case example

• Discussion of resources

• Questions, discussion, sharing

Genetic Counseling on Medical

Interpreters’ Board Exam


• Click “Written Exam” under the “Get Certified” tab. Click on the link for “Study Guide”

National Board of Certification for Medical


What every interpreter needs to know to get


Updated January, 2010

Slide 11: Subtopics - Medical Specialties

OB/GYN & Genetic Counseling

Note: Content is based on Job Analysis data statistics

Genetic Counseling

• What is your definition of genetic counseling?

• Who needs genetic counseling?

• What are the benefits of genetic counseling?

What is Genetic Counseling???

•“Helping individuals and families

understand how genetics affects

their health and lives.”

Genetic Counseling: Definition

Genetic Counseling is the practice of helping

people understand the impact of inherited health

issues or conditions that are present from birth.

Elements of the practice include:

> Assessment

of the chance for recurrence or occurrence of a condition

> Education

about inheritance, testing options, medical management, prevention,

social support and research, and

> Counseling

to help people adapt to the choices and to the psychological, familial

and social issues that stem from the risk or condition in the family.

The Genetic Counseling Process


Take a family history

Review medical records

Genetic (chromosome analysis) and non-genetic tests (X-rays)


Discuss the nature of the condition, including the contribution of heredity

Risks and benefits of options with careful attention to patient comprehension

Explain test results


Risk perception, burden of condition

Assist selecting (or deferring) decisions regarding the best options

Identify and discuss the role of cultural, family and individual values, beliefs,

priorities and needs related to the genetic condition

Provide supportive counseling and/or referrals to community resources

Genetic Counseling is for

• People of

> all ages

> all ethnicities

> all professions

Counseling for

> preconception

> prenatal

> pediatrics

> cancer

> adult-onset diseases

Who Sees a Genetic Counselor?

Who? Why?

• Individuals and their family

members concerned about the


• Families considering having

children, or after having a child

• People with adult-onset

diseases such as colon,

prostate, ovarian and breast

cancer and Alzheimer's disease


• Adult, pediatric health care


• Prenatal, reproductive health;

Pediatric, in/outpatient; public

health (newborn screening)


• Adult general and specialty care

(cancer genetics); research


Case Example

• Cleft Lip and/or Cleft


Parents’ Questions?????

• Why did this happen?

• What did I do wrong?

• What does the cleft mean for my child?

• What is his/her prognosis?

• Can I breastfeed him?

• How and when will the cleft be fixed?

• What should I tell other people?

• Might cleft lip happen again in another child?

Fourteen Weeks

Pedigree Analysis

• Determine client

knowledge, interests,


• Review all available

medical and genetic

history information

• Construct a four

generation family


Family History

4 generation pedigree


Family History

4 generation pedigree


Autosomal Dominant


Van der Woude Syndrome

Zooming in on DNA, Genes, and

Chromosomes – the whole


Nucleus, or


containing the

instruction book,

or genetic code


are the chapters

in a book – you

need them all to

make the story


DNA is the letters that spell

out the genetic code

Genes are like

sentences that build

the chapters in the


Teratogens: agents that interfere with

normal fetal development



•Amniotic Bands



Support Resources:

Wide Smiles

P.O. Box 5153

Stockton, CA 95205-0153

Phone: 209-942-2812

Fax: 209-464-1497

Genetic Counseling


• Case preparation

• Reason for Referral

• Intake: pregnancy, medical,

family hx

• Risk assessment and


• Inheritance counseling

• Discuss testing options or


• Psychosocial assessment and


• Resource identification and


Counseling Tools

• Build rapport (contracting)

• Active inquiry

• Active listening

• Patient education (teach-back)

• Identify coping mechanisms

• Facilitate decision making

• Non-directiveness

• Respect

• Empathy

• Support

The Genetic Counseling Process:


Genetic counseling is

both an art and a science

• Simple language,

adequate time, sensitivity

and respect/caring for

each patient

Nondirective Counseling

• Communicate all the available information

• Remain impartial and objective in the communication


• Assist the person to recognize his or her personal and

cultural priorities, beliefs, fears, and other concerns

• Facilitate informed decision making

Benefits of Genetic Counseling

• Determine diagnosis/cause

• Anticipate the course of the condition

• Communicate management options

• Identify physical/health manifestations and

• Understand risks to family members

• Risks to future children

• Appreciate the risks and benefits of testing options

• Provide information and facilitate decision making

• Provide support

• Etc…

Who are Genetic Counselors?

• Master’s degree from 2 year accredited training


• Provide information and support to families

• Clinical roles

• Educators and resource persons

• Administrative capacities

• Research

Modified from the National Society of Genetic Counselors, Inc. 1983

NSGC Professional Status Survey

March 2009

Genetic Counselors

(2,200 NSGC members)

• Gender

• Race/Ethnicity

• Disabilities

• Bilingual

• Language familiarity

• Frequency/comfort working with

an interpreter


(1,508 members:71% response)

• 95% female

• 93% Caucasian, 5% Asian,

US Population

(300 million people; 1% w/reason to see a GC=3 million

patients/2,000 counselors=15,000 patients/counselor!)

Reduce Health Disparities

• Sensitive discussion of personal, family, and

community values are key to genetic counseling


• There is a need to reach out to

African-American, Hispanic and

other underserved communities

National Society of

Genetic Counselors

Find a genetic counselor

Fact sheets, brochures, other publications

Career information

List of accredited graduate training programs

Resources for Genetics and Genetic



> Learn.Genetics: Genetic Science Learning Center, University of Utah


> Genetics Home Reference: National Library of Medicine


Genetic Counseling

> March of Dimes


> Guide to Genetic Counseling: the Genetic Alliance


Genetic Counseling and

Cultural and Linguistic Competence

2009 JEMF Fellowship:

• Develop an online resource portal for genetic

counselors, students, other audiences

• Links, resources, clinical and teaching


> genetics and genetic counseling

> cultural and linguistic competence

> health disparities

> multi-lingual patient information

> case studies

> clinical tools

> teaching tools

• Launch Fall 2010

Genetic Counseling and

Cultural and Linguistic Competence

Inviting your tips and words of wisdom

Share cases or translated documents

Content reviewers needed

Genetic and genetic counseling content

513 731-8818

Cincinnati, OH

Questions, Discussion, Sharing

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