GENETIC COUNSELING

Wahyuning Ramelan
Medical Study Program
UNTAN
Faculty of Medicine UI

Genetic counseling
A communication process between genetic
counselor and counselee, with objective to get a
solution for the genetic problem faced by the
counselee
Counselee can be
1. Patient with genetic disease/disorder (GDD)
2. A pair of parent who have a child with GDD
3. Newly wed spouse, or will marry pair, who have a
relative with GDD, or one of them has already the
GDD
4. Will marry pair (pre-marital), without or with history
of GDD among their relatives

Counselor is an educated one in medical

genetics, and trained as genetic counselor

Genetic counseling
Genetic counseling is an essentials step in
the management of a GDD
The main objective of this step is to
maximize the effort of GDD management,
by reducing the probability of adding
someone with GDD in the society, due to :
The cause of GDD up to now cannot be
eliminated
No 100% good result in the management of
GDD

Steps in genetic counseling

The first and important step in GC is the
diagnosis of GDD concerning GC
Diagnosis of GDD, can be
DNA sequencing, the most accurate and
reliable
Cytogenetics examination
Clinical picture
+ supporting lab exam

The second step is family data collection, in

relation with GDD, among family members

Steps in genetic counseling2

The 3rd step is constructing the
pedigree, which include
at least 3 generations
as much as possible family members

I/1
II/1
III/1

I/2

I/3 I/4
II/5

II/9
?

Steps in genetic counseling3

The 4th step is formulating the
alternatives will be given to counselee
At least 2 choices, better >2 alternatives
are constructed counselees selection
can be done with elegance
If necessary, give more information of
each choices. Also with its
consequences, whether selected or not

Steps in genetic counseling4

The 5th step is giving the counselee enough
time to think, rethink, and consider,
reconsider and then to select 1 only choice
If necessary once more explanation could be
given
Let the counselee make their own decision of
selecting the alternatives given
If necessary, at special condition/situation,
counselor may give advice, eg which one of
the alternative is more appropriate for
counselee

Steps in genetic counseling5

The 6th step is to help the counselee
on realizing their choice, even if the
choice is against counselors religion
belief.
Such a help eg. :
By sending the counselee to an
ObGyn, who can and will do
termination

Probability of occurance
Probability of occurrence is a significant
role in genetic counseling
Some probability of occurrence in
Autosomal recessive : 25%
Autosomal dominant : 50%
X-linked recessive : 50% in male, 50% female
carrier
Polygenic/multifactor inheritance : 2.5% - < 20%
Chromosomal aberration : 50% if already there,
or depend on maternal/paternal age
Mitochondrial DD : 100% if already + in mother,
but with variation of severity (mild severe)

Probability of occurance2
Some probability of occurrence are
epidemio-logically, age or both dependant,
such as
Albinism, about 1 : 4,000 6,000 in pop.
Down syndrome, about 1 : 900 1000 in pop.
But specifically, depend on maternal age :
< 25 1 : 1000
25 30
1 : 1000 - 1250
> 30 35 1 : 400 - 800
> 35 40 1 : 100 - 300
> 40 1 : 70

Probability of occurence3
From the pedigree below, what is the probability of the
occurrence for
Albinism from marriage II/5 II/6, while III/3 has already
albinism, both generation I of the 2 families are the 4 th
generation of same spouse :

I/1
II/1
III/1

I/2

I/3 I/4
II/5
?

II/9

Probability of occurence4
From the pedigree below, what is the
probability of the occurrence for
Down syndrome from marriage II/5 II/6, while III/3
has the syndrome; no relation between 2 families
I/1
I/2
I/3 I/4
II/1
III/1

II/5
?

II/9