Why clinicians should able to d ti lli ? do genetic
counselling?Damayanti Rusli Sjarif Div Nutrition & Metabolic
Diseases - Dept of Pediatric School of Medicine - University of
Indonesia Dr Cipto Mangunkusumo General HospitalJakarta -
IndonesiaDamayanti Rusli SjarifPatients rights Patients rights An
important patient right is An important patient right is informed
consent. Thith t if th d This means that if they need a diagnostic
approach and treatment, thh lthid h ldi the health care provider
should give them the recent information that d d t kd i i needed to
make a decision. Damayanti Rusli SjarifElement of Informed Consent
Element of Informed ConsentDamayanti Rusli SjarifDamayanti Rusli
SjarifWh t db" i t"? What do we mean by "environment"? 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,everything we drink, cook, or bathe in. Also, fluoride,
pesticides, minerals. Radiation sunlight, tanning lights, radiation
(X rays, microwaves, radio waves).waves). Infection bacteria,
viruses, fungi, parasites. Also includes infection-related factors,
such as sanitation and proximity to people, animalsor
insects.Damayanti Rusli Sjarifanimals, or insects.Wh ttidi d ? What
are genetic disorders? A genetic disorder is a diseaseA genetic
disorder is a disease caused by abnormalities in an individuals
genetic materialindividual s genetic material (genome).Damayanti
Rusli SjarifDamayanti Rusli SjarifGenetic materials Genetic
materialsDamayanti Rusli SjarifGene ExpressionDamayanti Rusli
SjarifCausesof geneticdisorders Causes of genetic disorders
monogenic (ADARXLMt) monogenic (AD, AR, XL, Mt) chromosomal
(numerical, structural)
multifactorial/polygenicmultifactorial/polygenic (congenital
malformations, common disorders) common disorders)Damayanti Rusli
SjarifClassification of Inherited DiseasesDamayanti Rusli
SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifInformed consent
in genetic disorders ti lli = genetic counsellingDamayanti Rusli
SjarifDefinition of GC Definition of GC Communication process which
deals Communication process which deals with the human problems
associated with the occurrence or the risk of with the occurrence
or the risk of occurrence of a genetic disorder in a family family
Participants: counselor and l counseleeDamayanti Rusli SjarifWhen
to suspect genetic diseases ? The individual demonstrates signs /
The individual demonstrates signs / symptoms of a genetically
linked inheritable disease The individual has a direct-risk factor
(e.g., based on family history, first- or( g y ysecond degree
relative) for the development of a genetically-linked i h it bldi
inheritable disease Individuals suspected to have a disease b d bi
h i l fi diDamayanti Rusli Sjarifbased on biochemical
findingsContents of GC Contents of GC information on diagnosis
prognosis information on diagnosis, prognosis, management
information on genetics and recurrencegrisk (rr) information on
alternatives for dealing ith th with the rr help to come to a
decision and its realisation realisation help to adjust to the
genetic disorderDamayanti Rusli SjarifDi i i t Diagnosis,
prognosis, management diagnosis needs to be etiologic = causal
diagnosis needs to be etiologic = causal, e.g deaf = no diagnosis,
MR = no diagnosis prognosis = life expectancy progressive prognosis
= life expectancy, progressive vs non-progressive, co-morbidity,
etc management includes all: management includes all:
physiotherapy, speech therapy, special schooling/ working, surgery,
drugs; mostly non-curative future curative therapies?Damayanti
Rusli SjarifDamayanti Rusli SjarifGenetics and rr Genetics and rr
explain how genetics play a role for the explain how genetics play
a role for the counselee recurrence risk (rr) is the risk for
therecurrence risk (rr) is the risk for the same parents to have
another child with the same genetic disorder g give a recurrence
risk and put this risk in perspective (1/4 = 25%, population risk,
general risks)Damayanti Rusli SjarifDamayanti Rusli SjarifPedigree
analysis 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 b di it
may be a sporadic case. The risk of recurrence of the different
syndromes varies depending on the pattern of inheritance. Damayanti
Rusli SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifDamayanti
Rusli SjarifFamily tree showing the relationship of each person to
the orange person. Cousins are colored green. The genetic
degreeorange person.ous ns are colored green.he genet c degree of
relationship are marked red boxes by percentage (%)Damayanti Rusli
SjarifSimple Diseases Simple DiseasesDamayanti Rusli SjarifSimple
Diseases (Mendelian) Simple Diseases (Mendelian)Damayanti Rusli
Sjarifrr for complex diseases rr for complex diseasesDamayanti
Rusli SjarifDamayanti Rusli SjarifC ldi Complex diseasesDamayanti
Rusli SjarifC ldi Complex diseasesDamayanti Rusli SjarifFor whom
genetic counselling? For whom genetic counselling? counselling
related to the health of thecounselling 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) patient(s) in the family with a (possible) genetic
disorder reproductive counselling = related to the wish h i hild
having a child parents with a previous child with a (possible)
genetic disorder g one of the parents has a (possible) genetic
disorder consanguinity of parentsDamayanti Rusli Sjarif
consanguinity of parents exposition to teratogenic/mutagenic
drugDamayanti Rusli SjarifDamayanti Rusli SjarifDamayanti Rusli
SjarifAlternatives Alternatives accept the risk and get children
accept the risk and get children refrain from getting (more)
children prenatal diagnosis (PND) and termination prenatal
diagnosis (PND) and termination of pregnancy when affected
pre-implantation genetic diagnosis (PGD) pre-implantation genetic
diagnosis (PGD) gamete donation (AID, oocyte donation) newborn
screening newborn screening adoptionDamayanti Rusli SjarifPrenatal
diagnosis Prenatal diagnosisDamayanti Rusli SjarifDamayanti Rusli
SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifEgg or sperm
donation Egg or sperm donationDamayanti Rusli SjarifDamayanti Rusli
SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifDamayanti Rusli
SjarifNewborn screening Newborn screeningDamayanti Rusli SjarifThe
heel-prick testDR b t G th i(1961) Dr Robert Guthrie
(1961)Damayanti Rusli SjarifTandem mass spectrometry(MS/MS T h l )
(MS/MS Technology)Damayanti Rusli SjarifExpanded Newborn Screening
Expanded Newborn ScreeningDamayanti Rusli SjarifSAVENot save Not
saveDamayanti Rusli SjarifDamayanti Rusli SjarifWhat
determinesparentschoice? What determines parents choice? level of
the risk and severity of the level of the risk and severity of the
disorder availability of management facilities availability of
management facilities availability of alternatives (PND, PGD, AID,
adoption) adoption) ethical and religious attitudes of parents
ethical and religious attitudes of society ethical and religious
attitudes of society social status of the parentsDamayanti Rusli
SjarifGoal of GC Goal of GC enable counselees/parents to make
enable counselees/parents to make an informed choice, appropriate
in view of their ethical and religious view of their ethical and
religious standards and family goalsNOT t d th b f NOT: to reduce
the number of children born with a genetic disorderDamayanti Rusli
SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifDamayanti Rusli
SjarifAbortion and Religion in USA Abortion and Religion in
USADamayanti Rusli SjarifDamayanti Rusli SjarifSupport 1 Support 1
Recognize and discuss the emotionalRecognize and discuss the
emotional responses of family members to information given (which
may include shockdisbeliefrelieffearguilt shock, disbelief, relief,
fear, guilt, sadness, shame, acceptance). Review normal grief
responses and signs th ti ht i di tth d ff th that might indicate
the need for further psychosocial support. Listen to the whole
story, and hear whatL y,this situation has meant to the family.
Damayanti Rusli SjarifDamayanti Rusli SjarifSupport 2 Support 2
Explore strategies for communicatingExplore strategies for
communicating information to others, especially family members who
may be at risk. Provide written materials and referrals Provide
written materials and referrals to support groups , other families
with the same or similar condition, and local dti li i and national
service agencies. Damayanti Rusli SjarifD i i li ti d dj t t
Decision, realisation and adjustment refer to social
worker/psychologist refer to social worker/psychologist refer to
centre for prenatal diagnosisPGDdonor insemination diagnosis, PGD,
donor insemination, newborn screening, adoption etc refer to
patient-organisation(non- refer to patient-organisation, (non-)
governmental aid offices etc Be available to answer futureBe
available to answer future questionsDamayanti Rusli SjarifHistoryof
GC History of GC 1940/41: Michigan/Minnesota USA 1940/41:
Michigan/Minnesota, USA 1946: London, UK (HSCGOS) 1951: ca 10
GC-clinics in USA 2005: GC for the first time teach to the 1styear
GC for the first time teach to the 1 year medical students Faculty
of Medicine University of IndonesiaDamayanti Rusli SjarifyHistory
of clinical genetic di ti diagnostics 1956: first chromosomal
diagnosis (Down 1956: first chromosomal diagnosis (Down syndrome =
trisomy 21) 60s/70s up to now: metabolic diagnosis 60 s/70 s up to
now: metabolic diagnosis 70s up to now: prenatal diagnosis 80s up
to now: DNA diagnosis 80 s up to now: DNA diagnosis 90s up to now:
FISH diagnosis 00s and future: micro array diagnosis 00s and
future: micro-array diagnosisDamayanti Rusli SjarifEthical rulesGC
Ethical rules GC beneficience = do well beneficience = do well
non-malificience = do not harm respect for autonomy = be
non-directive justice = be just and fair confidentiality = be
trustworthy confidentiality be trustworthyDamayanti Rusli
SjarifGeneticcounselling Genetic counselling Clinical Genetics
Eugenics Clinical Genetics voluntary Eugenics compulsory patient
care public health aim: informed decision/choice aim: reduce
morbidity/mortalityDamayanti Rusli SjarifEugenics 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
SjarifPropaganda slide produced by the Reich Propaganda Office
showing the opportunity cost ofp g g pp yfeeding a person with a
hereditary diseaseDamayanti Rusli SjarifSigned Letter by Hitler
Authorizing Euthanasia Killings Authorizing Euthanasia
KillingsDamayanti Rusli SjarifEugenics and Genocides Eugenics and
Genocides What was very interestingy gwas 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 Germany, it is a much overlooked tragedy,
which needs to be taught. Hitler forced Afro-German citizens in the
Rhineland citizens in the Rhineland to turn over their children for
forced sterilization. Damayanti Rusli SjarifDamayanti Rusli
SjarifDamayanti Rusli SjarifDamayanti Rusli SjarifSummaries
Summaries GC is integral part of the GC is integral part of the
management of patients with a idi d genetic disorder not only of
patients but also ofnot only of patients but also of their
familiesDamayanti Rusli SjarifSummariesDamayanti Rusli
SjarifGenetic counsellinglit t literatures Harper PS: Practical
Genetic Harper PS: Practical Genetic Counselling, 5th Edition,
Butterworth Heinemann Oxford Butterworth-Heinemann, Oxford Mueller
& Young: Elements of M di l G ti 12th Editi Medical Genetics,
12th Edition, Churchill Livingstone, EdinburghDamayanti Rusli
SjarifAssignments Assignments Plan genetic counselling for one
genetic Plan genetic counselling for one genetic disease that most
common or could be meet in your subspeciality clinical practicey p
y 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 i ti !! examination!!Damayanti Rusli Sjarif