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