Why clinicians should able to

d genetic
do
ti counselling?
lli ?
Damayanti Rusli Sjarif
Div Nutrition & Metabolic Diseases - Dept of Pediatric
School of Medicine - University of Indonesia
Dr Cipto Mangunkusumo General Hospital
Jakarta - Indonesia

Damayanti Rusli Sjarif

Patients rights
An important patient right is
informed consent.
This
Thi means that
th t if they
th
need
d a
diagnostic approach and treatment,
th health
the
h lth care provider
id should
h ld give
i
them the recent information that
needed
d d to
t make
k a decision.
d i i

Damayanti Rusli Sjarif

Element of Informed Consent

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Wh t do
What
d we mean by
b "environment"?
"
i
t"?

Diet
food, preservatives, coloring, method of preparation
(smoked foods, for example), composition of diet (fats,
carbohydrates, protein), and amount.
Air
clean air, smog, pollution, tobacco, chemical fumes in the
workplace, dust (coal, cotton, etc.), humidity, temperature.
Water
everything we drink, cook, or bathe in. Also, fluoride,
pesticides, minerals.
Radiation
sunlight, tanning lights, radiation (X rays, microwaves, radio
waves).
Infection
bacteria, viruses, fungi, parasites. Also includes infectionrelated factors, such as sanitation and proximity to people,
animals or insects.
animals,

Damayanti Rusli Sjarif

Wh t are genetic
What
ti disorders?
di d
?
A genetic disorder is a disease
caused by abnormalities in an
individualss genetic material
individual
(genome).

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Genetic materials

Damayanti Rusli Sjarif

Gene Expression

Damayanti Rusli Sjarif

Causes of genetic disorders

monogenic (AD,
(AD AR,
AR XL,
XL Mt)
chromosomal (numerical,
structural)
multifactorial/polygenic
(congenital malformations,
common disorders)

Damayanti Rusli Sjarif

Classification of Inherited Diseases

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Informed consent in genetic disorders

= genetic
ti counselling
lli

Damayanti Rusli Sjarif

Definition of GC
Communication process which deals
with the human problems associated
with the occurrence or the risk of
occurrence of a genetic disorder in a
family
Participants: counselor and
counselee
l

Damayanti Rusli Sjarif

When to suspect genetic diseases ?

The individual demonstrates signs /
symptoms of a genetically linked
inheritable disease
The individual has a direct-risk factor
((e.g.,
g based on family
y history,
y first- or
second degree relative) for the
development of a genetically-linked
i h it bl di
inheritable
disease
Individuals suspected to have a disease
b
based
d on bi
biochemical
h i l fi
findings
di
Damayanti Rusli Sjarif

Contents of GC
information on diagnosis
diagnosis, prognosis,
prognosis
management
genetics and recurrence
information on g
risk (rr)
information on alternatives for dealing
with
ith the
th rr
help to come to a decision and its
realisation
help to adjust to the genetic disorder

Damayanti Rusli Sjarif

Di
Diagnosis,
i prognosis,
i managementt
diagnosis needs to be etiologic = causal,
causal
e.g deaf = no diagnosis, MR = no diagnosis

prognosis = life expectancy,

expectancy progressive
vs non-progressive, co-morbidity, etc
management includes all:
physiotherapy, speech therapy, special
schooling/ working, surgery, drugs; mostly
non-curative

future curative therapies?

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Genetics and rr
explain how genetics play a role for the
counselee
recurrence risk (rr) is the risk for the
same parents to have another child with
the same g
genetic disorder
give a recurrence risk and put this risk
in perspective (1/4 = 25%, population
risk, general risks)

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Pedigree analysis

A detailed three generation pedigree is important to

recognize the pattern of inheritance of the disorder
This may be Mendelian or Non-Mendelian inheritance or
it may b
be a sporadic
di case.
The risk of recurrence of the different syndromes varies
depending on the pattern of inheritance.

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Family tree showing the relationship of each person to the

orange person. Cousins
ous ns are colored green. The
he genetic
genet c degree
of relationship are marked red boxes by percentage (%)

Damayanti Rusli Sjarif

Simple Diseases

Damayanti Rusli Sjarif

Simple Diseases (Mendelian)

Damayanti Rusli Sjarif

rr for complex diseases

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

C
Complex
l
diseases
di

Damayanti Rusli Sjarif

C
Complex
l
diseases
di

Damayanti Rusli Sjarif

For whom genetic counselling?

counselling related to the health of the
counselee (adult-onset disorders like genetic
cancers, neuro-degenerative disorders etc)
patient(s) in the family with a (possible)
genetic disorder
reproductive counselling = related to the wish
h i a child
having
hild
parents with a previous child with a (possible)
genetic disorder
g
one of the parents has a (possible) genetic
disorder
consanguinity of parents
exposition to teratogenic/mutagenic drug
Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Alternatives
accept the risk and get children
refrain from getting (more) children
prenatal diagnosis (PND) and termination
of pregnancy when affected
pre-implantation genetic diagnosis (PGD)
gamete donation (AID, oocyte donation)
newborn screening
adoption

Damayanti Rusli Sjarif

Prenatal diagnosis

Damayanti Rusli Sjarif

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Damayanti Rusli Sjarif

Egg or sperm donation

Damayanti Rusli Sjarif

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Newborn screening

Damayanti Rusli Sjarif

The heel-prick test

D Robert
Dr
R b t Guthrie
G th i (1961)

Damayanti Rusli Sjarif

Tandem mass spectrometry

(MS/MS Technology)
T h l
)

Damayanti Rusli Sjarif

Expanded Newborn Screening

Damayanti Rusli Sjarif

SAVE
Not save

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

What determines parents

parentschoice?
choice?
level of the risk and severity of the
disorder
availability of management facilities
availability of alternatives (PND, PGD, AID,
adoption)
ethical and religious attitudes of parents
ethical and religious attitudes of society
social status of the parents

Damayanti Rusli Sjarif

Goal of GC
enable counselees/parents to make
an informed choice, appropriate in
view of their ethical and religious
standards and family goals
NOT:
NOT to
t reduce
d
the
th number
b off
children born with a genetic disorder

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Abortion and Religion in USA

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Support 1
Recognize and discuss the emotional
responses of family members to
information given (which may include
shock disbelief,
shock,
disbelief relief,
relief fear
fear, guilt
guilt,
sadness, shame, acceptance).
Review normal grief responses and signs
th t might
that
i ht indicate
i di t th
the need
d for
f further
f th
psychosocial support.
L
Listen to the whole story,
y, and hear what
this situation has meant to the family.

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Support 2
Explore strategies for communicating
information to others, especially family
members who may be at risk.
Provide written materials and referrals
to support groups , other families with
the same or similar condition, and local
and
d national
ti
l service
i
agencies.
i

Damayanti Rusli Sjarif

D i i realisation
Decision,
li ti andd adjustment
dj t
t
refer to social worker/psychologist
refer to centre for prenatal
diagnosis PGD
diagnosis,
PGD, donor insemination,
insemination
newborn screening, adoption etc
refer to patient-organisation,
patient-organisation (non) governmental aid offices etc
Be available to answer future
questions

Damayanti Rusli Sjarif

History of GC
1940/41: Michigan/Minnesota,
Michigan/Minnesota USA
1946: London, UK (HSCGOS)
1951: ca 10 GC-clinics in USA
2005:
GC for the first time teach to the 1st year
medical students Faculty of Medicine
University
y of Indonesia
Damayanti Rusli Sjarif

History of clinical genetic

di
diagnostics
ti
1956: first chromosomal diagnosis (Down
syndrome = trisomy 21)
60
60s/70s
s/70 s up to now: metabolic diagnosis
70s up to now: prenatal diagnosis
80
80s
s up to now: DNA diagnosis
90s up to now: FISH diagnosis
00s and future: micro
micro-array
array diagnosis

Damayanti Rusli Sjarif

Ethical rules GC
beneficience = do well
non-malificience = do not harm
respect for autonomy = be nondirective
justice = be just and fair
confidentiality = be trustworthy

Damayanti Rusli Sjarif

Genetic counselling
Clinical Genetics

Eugenics

voluntary

compulsory

patient care

public health

aim: informed
decision/choice

aim: reduce
morbidity/mortality

Damayanti Rusli Sjarif

Eugenics propaganda, Nazi style.

Partial translation of text:Qualitative decline in the population
. . . It will come to this if individuals with lesser value have four
children and those of higher value have two. [Graphic and
translation from The Lancet, 20044.]

Damayanti Rusli Sjarif

Propaganda slide produced by the Reich

Propaganda
p g
Office showing
g the opportunity
pp
y cost of
feeding a person with a hereditary disease

Damayanti Rusli Sjarif

Signed Letter by Hitler

Authorizing Euthanasia Killings

Damayanti Rusli Sjarif

Eugenics and Genocides

What was very

y interesting
g
was the discovery that, in
Germany, Adolf Hitler
sterilized Blacks as one of
his first acts of German
Eugenics.
Given the small numbers
of Afro-black citizens in
Germany, it is a much
overlooked tragedy, which
needs to be taught.
Hitler forced Afro-German
citizens in the Rhineland
to turn over their children
for forced sterilization.

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Damayanti Rusli Sjarif

Summaries
GC is integral part of the
management of patients with a
genetic
i di
disorder
d
not only of patients but also of
their families

Damayanti Rusli Sjarif

Summaries

Damayanti Rusli Sjarif

Genetic counselling
lit t
literatures
Harper PS: Practical Genetic
Counselling, 5th Edition,
Butterworth Heinemann Oxford
Butterworth-Heinemann,
Mueller & Young: Elements of
M di l Genetics,
Medical
G
ti
12th Edition,
Editi
Churchill Livingstone, Edinburgh

Damayanti Rusli Sjarif

Assignments
Plan genetic counselling for one genetic
disease that most common or could be
meet in y
your subspeciality
p
y clinical practice
p
(take one of the diseases you put into your
genetic diseases assignment)
Collected next week during final
examination as a part of home work
examination!!
i ti !!

Damayanti Rusli Sjarif