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หลักการ เทคนิค

และขัน้ ตอนการให้คำาปรึกษาแนะนำาทาง
พันธุศาสตร์

นพ. ชนินทร์ ล่ม


ิ วงศ์
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,
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 members
heterozygote screening
premarital visit
prenatal visit
 Post-test counseling
informing 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 counselee
2 Telling the content
3 Giving explicit options
4 Taking action(s) according to the
counselee’s choice – Make plan
5 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 calculation
genotypes 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 Diagram
βE / βN β0 / βN

βE βN β0 βN

βE / β0 βN / β0

βE / βN βN / βN

Affected Carrier Carrier Non-carrier


Normal
โอกาสในการตัง้ครรภ์ของคู่เส่ียงท่ีเป็ นพา
หะธาลัสซีเมียชนิด alpha thal 1
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