lecture 3 Genetic Counseling
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Transcript of lecture 3 Genetic Counseling
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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