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Genetic Counseling

Genetic counseling is a two-way communication process in which counselor facilitates the understanding of genetic information pertinent to the counselee’s personal and family history, and assists the counselee in a non-biased manner to make an informed decision based on his/her own judgement regarding his/her reproduction and future.

The 4 types of counseling

Directive counseling Advocacy counseling Informative counseling Supportive counseling

Directive counseling

Advice Counselor : tells the best option Counselee : expected to be

compliance Use : traditionally and currently in

routine medical practice when a single option is clearly the best (or the least hazardous); emergency surgery

Advocacy counseling Facilitate an action based upon

choices Counselor : tells all available options Counselee : exercises his/her own

informed decision making process Use : increasingly with more choices

available and none may be better than the rest; cancer treatment options, amniocentesis, selective abortion

Informative counseling

Relate factual data or explanation on how to do something without asking for decision

Counselor : explain only Counselee : expected to

comprehend Use : telling the diagnosis,

explaining about medications

Supportive counseling Giving aid or feedback to assist in

coping and realistic adaptation to a given situation

Counselor : listen and provide emotional support and compassion

Counselee : allowed to vent and adjust at his/her own pace

Use : at all time usually with bad news

Goals of Genetic Counseling

To assist counselee first To avoid intrafamilial disease

recurrence or occurrence To decrease the number of new

affected cases

Components of an effective counseling

Counselor Counselee Content Circumstance

When to Use Counseling Pre-test counseling

screening of family membersheterozygote screeningpremarital visit prenatal visit

Post-test counselinginforming of diagnosis / test result

retrospectively for dead fetus

What is an effective counseling ?

Comprehension of facts in a non-biased way

Informed and non-directive decision making by counselee

Respect for counselee’s decision Proper action based upon that

decision Adequate support when needed

Making counseling effective

Knowledgeable and skillful counselor

Sensitive and supportive counselor Systematic and thorough care path Accurate laboratory support Proper follow up and re-

emphasizing of important facts

Steps in Genetic Counseling

1 Getting to know the counselee2 Telling the content3 Giving explicit options4 Taking action(s) according to the

counselee’s choice – Make plan5 Support counselee throughout the

process

1. Getting to know counselee

Greeting Agreement / Rule setting Reviewing the purpose of visit Pedigree derivation / review Assessment of his/her knowledge Assessment of his/her feeling

2. Telling the content Diagnosis Burden Prognosis Testing : symptomatic and presymptomatic Treatment Cause – genetic alteration Inheritance Recurrence risk Reproductive options

Prerequisite

Knowledge of phenotype-genotype Knowledge of laboratory diagnostic

methods Pedigree Basic mathematics for risk

calculation Common senses

Risk Assessment

Accurate risk calculationgenotypes of both parents

are known Risk estimation

genotype of one or both parents is not known

Accurate risk calculation

Label parental genotypes Identify genotype of gamete cell Random segregation of gametes Identify genotype of interest Derive risk for the genotype of

interest

Chromosome DiagramE / N 0 / N

E N 0 N

E / 0

E / N

N / 0

N / N

Affected CarrierCarrier Non-carrier

Normal

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3. Informing options

Reproductive options Allowing time to decide Buffering conflicts Supportive counseling throughout

Principles of Genetic Counseling

Beneficence Non-maleficence Autonomy Non-directiveness Informed decision Confidentiality and privacy Empathy and support Fairness

Ethical Principles

Beneficence Non-maleficence Fairness Autonomy Privacy Informed consent