Genetic counselling

Fertilization

Introduction
Medical genetic
Highly specialized branch of medicine
Training in genetics a luxury
Common disorder, partial genetic origin
Development of diagnostic test
Essential for health professional
INTRODUCTION
2-3% INFANTS BORN WITH
CONGENITAL MALFORMATIONS
5% INDIVIDUALS WILL SUFFER BY
ADULTHOOD
COMMON DISORDER HAVE AT LEAST
PARTIAL GENETIC ORIGIN
CHROMOSOMAL
SINGLE GENE
MITOCHONDRIAL
RESPONSIBILITY IN GENETIC
COUNSELING
ACCURATE/ACCEPTED STANDARDS
OF PRACTICE
CONFIDENTIAL
CONSULTANDS CONSENT
NOT INFORMEDRISK FOR FAMILY
MEMBERS

DNARNAPROTEIN
( CENTRAL DOGMA )

INPAIRMENT OF NUMBER AND
STRUCTURE OF CHROMOSOME

INPAIRMENT OF PROTEIN SYNTHESE

INCLINATION OR DECLINATION OF
PROTEIN SYNTHESE: INPAIRMENT OF
FUNCTION
Genetic counselling


a communication
process which
deals with human
problems
associated with the
occurence of a
genetic disorder in
the family








GENETIC COUNSELING
Core activity in medical genetic:
the process of providing information
To know genetic risk
How to prevent its transmission
The instrument commonly used
Bayesian stastitical method: an individual does or
does not carry a particular allele for genetic disease
DNA analysis to refine estimation
Genetic screening
Public health activity
Genetic conselling
Pedigree
the medicals fact (diagnosis, natoural history)
the inherite pattern and recurence risk
the option deal to the risk
Chose option to actions for best suit the
circumstance
Ajust the disorder risk of the disorder
Take more attention to late age of onset:
Huntington ds asymptomatic to the age of 55

10
CF CF

Genetic Conseling
Increase in the isolation and identification
of disease genes
Identification of the genetic cause of
common diseases like breast cancer and
colorectal cancer
Increase in access to testing, technically
as well as financially



What type of disorder are genetic?
Genetic material on chromosomal level or
a gene level contain one or more
mutations which cause of the disorder
Chromosomal disorder
Monogenic or Mendelian inheritance
Polygenic or multifactorial
Mitochondrial disorder
Who seeks genetic counseling
The individual:suffers himself from a
genetic/potentially genetic disease
A close relative has genetic disease
The individual is at increased genetic risk
Individual/couple is having reproductive
problem
The couple has already born a child with a
malformation or genetic disorder
The couple conserning prenatal diagnosis
What is genetic counseling?
Prosess to inform
Individual affected or at risk
The consequences of disorder
Probability of suffering from disease
Probability of transmitting to the offspring
Avoiding the occurrence of malformation or
disease
Disease in question
Aspects of genetic counseling
Arriving at specific diagnosis
Estimation of risks
To develop the disordertransmit it to
offspring
Practical aid: recommending to
profesionals for speech or educational
therapy
Supportive role: because majority of
genetic disorder cannot be cured
Stages in genetic counseling
Assessment
Reason, family history, clinical examination
Clinical diagnosis and management
Consultant, family member
Recurrent risk estimation
Based on diagnosis, pedigree analysis, test result
Genetic counseling
Nature, recurrent risk, prevention o recurrent
( prenatal dx, counseling )
Follow-up care
Refferal, support
Psychological aspects
Serious personal and family problem
Receiving bad news
Example in Reproductive decisions
Make own decisions
Accurate of information
Require support
Referral for psychotherapy
Pedigree symbols
GENETIC SCREENING
SCREENING MAY BE USED IN POPULATION AT RISK
FOR A PARTICULAR GENETIC DISORDER
ONLY APPROPRIATE WHEN THE NATURAL HISTORY
OF THE DISEASE IS UNDERSTOOD
THE SCREEING TEST ARE VALID AND RELIABLE
SENSITIVITY
SPECIFICITY
FALSE-POSITIVE AND FALSE NEGATIVE RATES ARE
ACCEPTABLE
EFFECTIVE THERAPHY IS AVAILABLE
JUSTIFY ITS COST

Each year 70.000 people

2-5% of all cases it is hereditary

Is cancer often hereditary?
TYPE OF SCREENING


HETEROZYGOTE SCREENING
PRESYMPTOMATIC SCREENING
PRENATAL DIAGNOSIS
NEWBORN SCREENING
Heterozygote secreening
Screening a subceptible population
Ashkenazic jewsTay-Sachs
High frequenzy of heterozygotes in
blackthalasemia
Screening for person who a carrier for
a specific disorder to make informed
reproductive choices.
Consanguineus mating
Presymptomatic genetic
screening
In family history of dominantly
inherited disorder
Huttingtons ds
Breast cancer
Adult polycystic kidney disease
Identifying a definite carrier of the
genetic disorder
PRENATAL DIAGNOSIS
Steele and Breg
Amniotic fluid cells could be cultured
Fetal karyotip can be demonstrated
Pregnant women , on the basis of age
Woman under 35 yrs old screening for:
Cystic fibrosis,
DMD
Other common genetic disorder
Only 2% prenatal diagnosis are terminated
Because of the fetus has a genetic defect


Indication for prenatal
counseling
Maternal age over 35
Previous child with chromosome abnornality
Structural chromosomal abnormality in one
parent
Family history of a neural tube defect
Family history of genetic defect
Fetus is at risk of an identifiable defect
X-linked disorder
Estimation risk correlated to maternal
age

TERMINATION OF PREGNANCY
LEGAL TERMINATION: WHEN THE
FETUS IS FOUND TO BE SERIOUSLY
ABNORMAL
CHROMOSOMAL DEFECTS
ANATOMICAL ABNORMALITIES
HOTLY DEBATED AS ABORTION


SIMIAN CREASE


FRAGILE X SYNDROME


COLOUR BLINDNES