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“Whenever man takes a new step towards subduing nature through the art of organisation and technology, he should previously have taken two steps within himself in order to deepen his ethical thinking” (Friedrich von Hardenberg, 18th. century) GEN-ETHICS 2012 Marek Vácha John Sulstone against genetic discrimination "A hundred years ago, there was no equitable treatment for women; they didn't even have the vote. There was no equitable treatment for people of different races. We've established both of those, and now we need to do it across the board for all genetics.„ http://www.guardian.co.uk/science/2004/may/15/genetics.academicexperts GENES In 1991 Stephen Mobley shot a Georgia pizza parlor employee in the back of the head and bragged about the shooting to his friends. Later, Mobley appealed his conviction to the state's Supreme Court. His new defense: my genes made me do it. Pointing to a long family history of genetic illness and criminal behavior, Mobley's attorneys argue that a range of genetic factors made it almost inevitable that he would eventually come to lead a life of crime. The Mobley case stands at the center of the age-old "nature versus nurture" debate in the development of human behavior. H.G.Brunner H.G.Brunner only males 50 % of males X chromosome Abdelmalek Bayout Abdelmalek Bayout, an Algerian citizen who has lived in Italy since 1993, admitted in 2007 to stabbing and killing Walter Felipe Novoa Perez on 10 March. Perez, a Colombian living in Italy, had, according to Bayout's testimony, insulted him over the kohl eye make-up the Algerian was wearing. Bayout, a Muslim, claims he wore the make-up for religious reasons. During the trial, Bayout's lawyer, Tania Cattarossi, asked the court to take into account that her client may have been mentally ill at the time of the murder. After considering three psychiatric reports, the judge, Paolo Alessio Vernì, partially agreed that Bayout's psychiatric illness was a mitigating factor and sentenced him to 9 years and 2 months in prison — around three years less than Bayout would have received had he been deemed to be of sound mind. Abdelmalek Bayout But at an appeal hearing in May this year, Pier Valerio Reinotti, a judge of the Court of Appeal in Trieste, asked forensic scientists for a new independent psychiatric report to decide whether he should commute the sentence further. For the new report, Pietro Pietrini, a molecular neuroscientist at Italy's University of Pisa, and Giuseppe Sartori, a cognitive neuroscientist at the University of Padova, conducted a series of tests and found abnormalities in brainimaging scans and in five genes that have been linked to violent behaviour — including the gene encoding the neurotransmitter-metabolizing enzyme monoamine oxidase A (MAOA). A 2002 study led by Terrie Moffitt, a geneticist at the Institute of Psychiatry, King's College, London, had found low levels of MAOA expression to be associated with aggressiveness and criminal conduct of young boys raised in abusive environments1. Abdelmalek Bayout In the report, Pietrini and Sartori concluded that Bayout's genes would make him more prone to behaving violently if provoked. "There's increasing evidence that some genes together with a particular environmental insult may predispose people to certain behaviour," says Pietrini. On the basis of the genetic tests, Judge Reinotti docked a further year off the defendant's sentence, arguing that the defendant's genes "would make him particularly aggressive in stressful situations". Giving his verdict, Reinotti said he had found the MAOA evidence particularly compelling. Reinotti made the decision in September 2009 Abdelmalek Bayout But forensic scientists and geneticists contacted by Nature question whether the scientific evidence supports the conclusions reached in the psychiatric report presented to Judge Reinotti. "We don't know how the whole genome functions and the [possible] protective effects of other genes," says Giuseppe Novelli, a forensic scientist and geneticist at the University Tor Vergata in Rome. Tests for single genes such as MAOA are "useless and expensive", he adds. One problem is that the effects of the MAOA gene are known to vary between different ethnic groups, Moffit says. A 2006 study in the United States found that former victims of child abuse with high levels of MAOA were less likely to commit violent crimes — but only if they were white. The effect was not evident in non-white children. "If the defendant has any African ancestry, this could bring up a question of how well the genotype of that particular gene could relate to his personal behaviour," Moffitt says. Pietrini and Sartori, however, did not test Bayout for his ethnicity. "The ethnicity of the defendant is irrelevant" in this case, Pietrini told Nature. He argues that the defendent does not belong to any of the nonwhite ethnic groups considered in the 2006 study. "Besides, MAOA is just one of the candidate genes we analysed," he added. Abdelmalek Bayout Cattarossi argues that all evidence that has a bearing on her client's mental health should be considered by the court. "My client is clearly an ill person and everything that allows the judge to better evaluate the case and to decide the right sentence should be investigated," she says. Since the 1994 Stephen Mobley case in the United States — the first case in the world in which the defence asked to have their client tested for MAOA deficiency — lawyers have increasingly been trying to bring MAOA deficits and similar genetic evidence into courtrooms worldwide. According to Farahany, who updates a personal database on sentences passed in the United States, in the past five years there have been at least 200 cases where lawyers have attempted to use genetic evidence to support the idea their clients' were predisposed to violent behaviour, depression or drug or alcohol abuse. In Britain, there have been at least 20 such cases in the past five years. Up to now most such efforts have been unsuccessful in court — although a few have influenced sentencing in the United States. Judges have tended to reject the idea that a person has no control over their choices because of their genes, says Farahany. Some fear that such cases could lead to the acceptance of genetic determinism — the idea that genes determine the behaviour of an organism — in criminal cases. Abdelmalek Bayout "90% of all murders are committed by people with a Y chromosome — males. Should we always give males a shorter sentence?" says Steve Jones, a geneticist at University College London. "I have low MAOA activity but I don't go around attacking people." Farahany points out that prosecutors could use the same genetic evidence to argue for tougher sentences by suggesting people with such genes are inherently 'bad'. "The question is where do you stop," Jones adds. http://www.nature.com/news/2009/091030/full/news.2009.1050.html Behavioral Genetics and Moral Responsibility if some people are identified as violent because of a diagnosable conditions, and receive special allowances because of it, then others who are violent might wonder what really distinguishes them from the „genetically violent“ if some violent behavior can be put down to physical causes, then other violent behavior seems likely to have the same sort of explanation if all behavior has biochemical and eventually genetic substrata, why should anyone ever be held morally responsible? (Kaebnick, G.E., (2006) Behavioral Genetics and Moral Responsibility. in Parens, E., Chapman, A.R., Press, N., (eds.) Wrestling with Behavioral Genetics. John Hopkins University Press, Baltimore, p.221) Genes and Behaviour 60 per cent of murders in America is carried out by African-Americans, though they constitute 12 per cent of the population. But before we label blacks particularly murderous, we should note that murder rates in Caribbean countries or African countries are no higher than in other countries. Therefore we must look to environmental factors, rather some innate genetic characteristic, to explain the extraordinarily high murder rate. Genes „For“ Criminal Behaviour Crime = an act or the comission of activity that is forbidden Criminal behaviour can be a one-time phenomenon can be a profession shoplifting x pickpocketing leaving lethal nerve gas on a subway station shooting a doctor working in an abortion clinic „white collar crime“ = there is not such thing as „a crime“ Genes and Behaviour The Question of Responsibility How much should the fact that one was abused as a child, sexually molested by a religious leader, or were currently attempting to give up a smoking mitigate in a criminal case? Criminality in USA there is proportionally 7x more murders than in Great Britain …is it a proof that Americans have more „genes for aggressive behaviour“? ...almost certainly not, because not long ago it was one single population (of Britons) Australia was long time a convict colony for prisoners from Great Britain nowadays there is no higher criminality than in the rest of the world Criminality half of our population carries a specific genetic variant that makes them sixteen times more likely to end up in jail than the other half it is Y chromosome carried by males XYY males Are XYY males more likely to be found in prison than are XY males? 1965, Edinburgh: while all of the 197 males in the account of prison hospital inmates were described as „dangerously violent“, seven had the XYY karyotype The seven males constituted about 3,5 % of the total. But since estimates are that only about 1,3 % of all males have the XYY chromosomal makeup, the authors of the study posited that the 3,5 % rate found in the prison population might be 20 times higher than the frequency in the normal population XYY males They then generalized from that meager data to claim that men with 47 chromosomes were mentally subnormal and had a tendency to hyperaggressivity and violence XYY males Recent evaluation do not find this body of work credible. XYY males XYY individuals have been shown to be no more aggressive than average may be taller may be less intelligent hyperactive more impulsive Nevertheless, the claims made managed to stigmatize a generation of XYY males and apparently led to the abortion of a significant number of fetuses with that karyotype. (Duster, T., (2006) Behavioral Genetics and Explanations of the Link between Crime, Violence, and Race. in Parens, E., Chapman, A.R., Press, N., Wrestling with Behavioral Genetics. Johns Hopkins University Press, Baltimore. p. 157) Incarceration of African Americans x European Americans 1933: blacks were incarcerated at a rate approximately twice that of whites 1950: four times 1970: six times mid 1990s: blacks are incarcerated seven times that of whites there is no genetic explanation these incarceration rates are a function of social, economic, and political factors (Duster, T., (2006) Behavioral Genetics and Explanations of the Link between Crime, Violence, and Race. in Parens, E., Chapman, A.R., Press, N., Wrestling with Behavioral Genetics. Johns Hopkins University Press, Baltimore. p. 158) DNA Database The use of DNA in postconviction cases to determine whether or not there was a wrongful conviction, the kind of situation that would help to free the innocent 2. The collection of DNA of „suspects“ or arrestees in pretrial circumstances to increase the DNA database, which in turn is designed to help law enforcement to determine if there is „match“ with tissue sample left at some unsolved crime – the net to catch the guilty 3. The advocacy of increasing the collection of DNA from a wider and wider band of felons in the postconviction period, so that there is a record on file in the event of recidivism 1. (Duster, T., (2006) Behavioral Genetics and Explanations of the Link between Crime, Violence, and Race. in Parens, E., Chapman, A.R., Press, N., Wrestling with Behavioral Genetics. Johns Hopkins University Press, Baltimore. p. 162) GENES INFLUENCE BEHAVIOUS Artificial selection Behaviour terriers are aggressive scrappers spaniels are nonaggressive and people oriented there are behavioral breed differences in the development of social relationship, emotionality, trainabiliity, as well as many other behaviors scolding that would be brushed off by a terrier could traumatize a sheepdog Mice in an open field Mice in an open field Mice in an open field the difference between the high and low lines steadily increases each generation this outcome is a typical finding from selection studies of behavioral traits and strongly suggests that many genes contribute to variation in behaivor ENVIRONMENT Environment prenatal environmental effects nutritional balance and hormone fluctuation during pregnancy exposure to drugs, chemicals, toxins etc. postnatal environmental effects parenting, sibling interactions, peer relationship, education etc. physical illness, psychological stress, cultural experiences, birth order etc. Environment behaviorism: give me a dozen healthy infants, well-formed, and my own specified world to bring them up in and I´ll guarantee to take anyone at random and train him to become any type of specialist I might select – doctor, lawyer, artist, merchant-chief and, yes, even beggar-man and thief, regardless of his talents, penchants, tendencies, abilities,vocations, and race of his ancestors. Behaviorism A man is nothing but a piece of plasticine... FREEDOM Animisms There is no difference between 1. person and thing 2. living and non-living 3. spiritual and material World of children and world of science Being is being alive Science Animism René Descartes Panmechanismus from this picture of the world stem the horror of man – after all, this raw and crude material – that´s me! „in reality, there is nothing but atoms and emptiness“ (Demokritos) Francis Crick: The Scientific Search for the Soul Francis Crick : the soul was not discovered... Replicators and Vehicles Now (the replicators) they swarm in huge colonies, safe inside gigantic lumbering robots, sealed off from the outside world, communicating with it by tortuous indirect routes, manipulating it by remote control. They are in you and me; they created us, body and mind; and their preservation is the ultimate rational for our existence. They have come a long way, those replicators. Now they go by the name of genes, and we are their survival machines. (Richard Dawkins: The Selfish Gene) We are… the computers Viewed in this light, the question that is sometimes asked — can computers think? — is somewhat ironic. Here of course I mean the computers that we ourselves make out of inorganic materials. What on earth do those who ask such a question think they themselves are? Simply computers, but vastly more complicated ones than anything we have yet learned to make. Remember that our man-made computer industry is a mere two or three decades old, whereas we ourselves are the products of an evolution that has operated over hundreds of millions of years. Fred Hoyle, 1964 The genetic engineering is nothing that „revolution of robots“! GENETIC DISORDERS Unique characteristics of genetic disorders Genetic disordres strike families, not only individuals. Knowledge about genetic disease in one family member may have important implications for the health prospects of other family members; the „patient“ may be an entire family rather that just single person in order to counsel one member of a family it may be necessary to have detailed information about several other family members Unique characteristics of genetic disorders Inherited disorders may affect more than one generation. Thus, genetic disease may have serious consequences for people in generations yet unborn there is a strong need for long term storage (over many generations) of information about genetic disease and for the data protection genetic diseases also differ from non-genetic diseases in the sense that it is to an increasing degree becoming possible to predict disease risk in people who today are healthy and even people who are not yet born Unique characteristics of genetic disorders The need for knowledge about disease risk is to an extent in conflict with the right to privacy of the persons whose disorder is the reason why the risk situation is known. It is necessary to find a suitable balance between one person´s need for knowledge, and the relative´s right to privacy. Case Report Catherine is a 14 year old girl who in the course of her evaluation for primary amenorrhea is found to have complete androgen insensitivity syndrome (CAIS). This syndrome, previously called testicular feminization syndrome, is a genetic disorder in which an XY fetus is insensitive to androgens (male hormones) and is therefore born looking externally like a normal girl. However, internally, there is no uterus, fallopian tubes or ovaries but testes are present either in the abdomen or the inguinal canal. Individuals with the syndrome have no pubic or axillary hair, are sterile and cannot bear children. The syndrome is usually detected at puberty when a girl should but does not begin to menstruate. The testes need to be removed and patients subsequently require estrogen replacement therapy. FORUM : Should a physician respect the parents’ request not to disclose a diagnosis of “androgen insensitivity syndrome” to their adolescent daughter Catherine is a very good athlete and is very much involved in hockey. Her coach has sponsored her to try out for the Olympics hockey team. The physician talks to the parents regarding the disclosure of the information to Catherine but the parents request that the doctor does not disclose the diagnosis. Direct marketing of genetic tests to the public A development with important ethical implications is the marketing of genetic tests directly to the public. Such tests are designed to detect differences in DNA, genes or chromosomes that are not provided as part of a medical consultation. Direct marketing might be seen as a positive step, as individuals take increasing responsibility for their own health and, armed with information about their susceptibility to particular disease conditions, makes lifestyle changes to promote their health Direct marketing of genetic tests to the public ...but there are at least two potential harms: the impact on individuals of misinterpreted or erroneous predictive health information that overstates the role of genetics in causing common diseases, and which might result in delays in proper medical advice being sought, or in expensive and unproven dietary or lifestyle changes the possibility of people performing inappropriate genetic tests on children or other adults without proper consent for complex disorders such as high blood pressure, genetic factors may only account for a few percent of the risk, whereas changing habits in relation to diet, exercise, smoking and antihypertensive drug treatment could reduce the risk of a heart attack by up to 80 %. Reproductive decision-making potential parents who know they have, or might be carriers of, genetic disorders are faced with difficult decisions about whether to have children of their own, The options are: to proceed with a planned pregnancy not to have children to adopt children to use donor eggs, sperm or embryos to avoid the risk of the child being born with the genetic disorder Huntington´s disease autosomal dominant inheritance Huntington´s Disease = degenerative neuropsychiatric disorder, affecting the basal ganglia but also affecting widespread areas of centra nervous systém it is inherited as an autosomal dominant: P: Aa x aa F1: Aa aa 1 : 1 = each offspring of an affected parent has 50% risk of inheriting HD gene Huntington´s Disease Signs and symptoms usually develop in middle age. Younger people with Huntington's disease often have a more severe case, and their symptoms may progress more quickly. Rarely, children may develop this condition. Also called Huntington's chorea, Huntington's disease was documented in 1872 by American physician George Huntington. The name "chorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of this condition. Huntington´s Disease Symptoms personality changes and decreased cognitive abilities. irritability anger depression difficulty of making decisions learning new information answering questions remembering important information. The family and friends may notice these changes before the patients become aware of them. Huntington´s Disease Symptoms Early physical signs and symptoms of Huntington's disease may include mild balance problems, clumsiness and involuntary facial movements, such as grimacing. As the disease progresses, you may develop these other Huntington's disease symptoms: Sudden jerky, involuntary movements (chorea) throughout your body Severe problems with balance and coordination Difficulty shifting your gaze without moving your head Hesitant, halting or slurred speech Swallowing problems Dementia Huntington´s Disease Symptoms begin insiduously, between ages 35 and 50 though onset may occur at any time from childhood to old age death occurs an average of 15 years after symptoms first appear it is a late-onset disease, the symptoms generally not appearing until after the person has begun to have children Huntington´s Disease 1983 - gene for HD was localized to the short arm of chromosome four 1993 - gene was isolated the defect is an abnormally long repeated seqence of three DNA base pairs (CAG) Huntington´s Disease The discovery of the HD gene in 1993 resulted in a direct genetic test to make or confirm a diagnosis of HD in an individual who is exhibiting HD-like symptoms. Using a blood sample, the genetic test analyzes DNA for the HD mutation by counting the number of repeats in the HD gene region therapeutic options are not yet available request to have a DNA test conducted is often based on a desire to take the test result into consideration in family planning and other planning for life. Huntington´s Disease Individuals who do not have HD usually have 28 or fewer CAG repeats. Individuals with HD usually have 40 or more repeats. A small percentage of individuals, however, have a number of repeats that fall within a borderline region. (30 - 40) Huntington´s disease Note: Dr. Michael McCormack cited a case where a woman had one more repeat than her mother and she was symptomatic at 40, while her mother still showed no signs at 70. Beyond age of onset, we know very little about the variation in the progression of symptoms, for some individuals decline quite rapidly, while others experience a much more gradual deterioration. Huntington´s Disease clinical features Emotional, cognitive and motor disturbances the most common disturbances in emotions are depressive diorders, irritability and apathy, aggressive outbursts, impulsiveness, social withdrawal disturbances of cognition: loss of cognitive speed and flexibility. In the workplace patient is unable to keep pace with the work Huntington´s Disease clinical features motor disorder: voluntary and involuntary movements, especially chorea. Patients develop diminished manual dexterity, slurred speech, swallowing difficulties, ultimately become rigid and unable to initiate any movement voluntarily. Patients who survive to the advanced state become confined to bed and area unable to participate in their selfcare Huntington´s Disease A positive gene test without neurological signs indicates the presence of the HD gene, but not disease onset Huntington´s Disease Therapy In 2006, researchers discovered that the protein expressed by the Huntington's gene interacts with another protein to disturb the way that cholesterol accumulates in the brain. Cholesterol is essential for healthy brain cells and the network among those brain cells — but the cholesterol needs to be in proper levels and in the proper locations. When the network of brain cells is disrupted, motor skills, cognitive skills and speech can be affected. If scientists can figure out a way to disrupt this interaction between the proteins, they may eventually be able to develop a targeted drug therapy. Huntington´s Disease Varlam Shalamov (1907 - 1982) Huntington´s Disease ethical issues Huntington´s Disease ethical issues Informational self – determination •right to know •right to not know Case Study Sue is an 19-year-old college student. Desperate for a little extra spending money, Sue responds to an ad in the local paper and volunteers to donate a blood sample to a company setting up a genetic database. On her follow-up visit, Sue is shocked to learn that she carries the gene for Huntington's Disease. As she researches the disease, she realizes that one of her parents must also express the Huntington's gene and that they will most likely become symptomatic in the next ten years. She is baffled however, when she notes that all of her grandparents, both maternal and paternal, have entered their 60s without symptoms. As she begins to research the genetics of the disease, she realizes that one of her grandparents may have had the gene, but never expressed the phenotypic disease. How is that possible? Huntington´s Disease Predictive testing Predictive testing should be performed according to the international guidelines proposed by the World Federation of Neurology (WFN), in which ample pre-test genetic counseling and neuropsychological testing are provided together with posttestb psychotherapeutic support . This is partly intended to reduce the likelihood of serious consequences. An international collaborative study revealed that out of 4527 participants in predictive testing protocols, 44 (0.97%) had a catastrophic event: five committed suicide, 21 made suicide attempts and 18 had to be hospitalized for psychiatric disturbances. All of the suicides happened in individuals who had become symptomatic, 11 out of 18 attempted suicides and eight out of 18 hospitalized individuals had also begun to show manifestations of the disease. This means that catastrophic consequences often occur when symptoms begin, which may be a long time after the test result is conferred Right to not know Huntington´s disease Some quotations: „I'm a person who thinks life would be very dull if you had a crystal ball ... that's my way of looking at things ... I'd sooner not know what's going to come up in the future ... I'd sooner live day to day why don't you just live everyday as it comes ... live for today and not for tomorrow ... what are you going to achieve by finding out? ... why burden yourself with all that because if you're going to get it [HD] ... you're going to get it ... you could put yourself all through the test and even learn you are gene-positive and you could die with cancer or heart attack long before Huntington's hits you …“ Right to know Huntington´s disease Choosing not to know would be ethically questionable if the choice to remain ignorant could have serious consequences for a third party, such as spouse. A decision to inform one´s spouse (or potential spouse) about a known risk of a serious disorder has to be made by the risk persons themselves the moral duty to have an open communication with one´s spouse about the risk may not be included in a law Diskriminace http://www.genetichealth.com/ELSI_Genetic_Discrimination_Myth_or_Reality.shtml A woman with a family history of Huntington's disease tried to apply for health insurance. The company wanted her to prove she didn't have the mutation, but she didn't want to know. She couldn't get coverage without the test. Another woman's mother had Huntington's. When her employer found out about her plans to get tested, he fired her because of the potential costs of employing someone with the disease. Discrimination http://www.genetichealth.com/ELSI_Genetic_Discrimination_Myth_or_Reality.shtml Terri Seargent was identified as having Alpha-1, a genetic disorder that can affect the lungs and/or liver. When her employer received a bill for her first preventive treatment, he abruptly fired her, despite having always referred to her job performance as exemplary. Someone with the gene for Alpha -1 will not necessarily become symptomatic. Nevertheless, according to the Alpha-1 Association, at least 30 people have been denied private health or life insurance because of their genetic status. Familial hypercholesterolemia Persons with genetic predispositions will not necessarily contract the disease risk predictions at the practical level will became available wit respect to certain cancers, allergies, psychoses an other common diseases knowledge of one´s disease risk may be experienced as a challenge and a stimilus to positive action, such as changing life style, diet etc. Convention on Human Rights and Biomedicine (Oviedo Convention) 1997 Article 12 – Predictive genetic tests Tests which are predictive of genetic diseases or which serve either to identify the subject as a carrier of a gene responsible for a disease or to detect a genetic predisposition or susceptibility to a disease may be performed only for health purposes or for scientific research linked to health purposes, and subject to appropriate genetic counselling. Sickle cell disease in 1933, Diggs and collegues estimated that about 7,5 % of the African population had at least one copy of the HbS allele it was found that P. falciparum infection increased the rate of sickling and dehydration of blood cells containing a mixture of HbS and HbA proteins. This led to destruction of the blood cells – and the parasite within it. thus it seems that the red blood cells of heterozygotes are not as good incubators for Plasmodium larvae as are normal erythrocytes. (Gilbert, S.F., Epel, D., (2009) Ecological Developmental Biology. Sinauer Associates, Inc. Sunderland, MA. p. 314-315) Allison found that different African tribes had very different frequencies of the HbS allele. In some tribes, as many as 40 % of the population was heterozygous faor the HbA allele, while in others almost no one carried HbS It was found, that the HbS allele has evolved at least five separate times! (Gilbert, S.F., Epel, D., (2009) Ecological Developmental Biology. Sinauer Associates, Inc. Sunderland, MA. p. 314-315) we still have no genetic therapy for sickle cell anemia one of the reasons is that sickle cell anemia is a gain-of- function mutation „sticky“ proteins form cables that give the mutant blood cell its sickled shape and limit its flexibility, eventually resulting in clogged blood vessels and early death. It is easier to cure a loss-of-function mutation, in which the functioning gene is simply missing. in loss-of-function, one can add a functioning gene where there was no functioning gene; in treating gain-of-function, you have to get rid of the mutant gene and then substitute the wild-type, functioning gene (Gilbert, S.C., Tyler, A.L., Zackin, E.J., (2005) Bioethics and the New Embryology. Sinauer Associates, Inc. W.H. Freeman & comp. Sunderland, MA U.S.A. p. 193) Sickle cell disease The disease results from an altered hemoglobin, in which the aminoacid valin substitutes for glutamic acid at position 6 in the βglobin chain. Sickle cell disease The early 1970s saw the establishment of a sickle cell anemia screening program in the US, which probably provides an example of all the mistakes that need to be avoided in such a program. It focused on African Americans, referring to the disorder as a communicable disease. The State laws were scientifically inaccurate because they did not reflect a clear understanding of human genetics and the screening tool they were using, with the results that carriers of the sickle cell treat were stigmatized. This included not only attempts to prevent marriage, they were also denied health and life insurance. Employment opportunities were denied, including acceptance into the US Airforce Academy Jewish Perspective: genetic testing the Talmud advises a man not to marry into a family where leprosy or epilepsy has appeared in at least three people. it is generally not permissible to screen specifically for gender just because one wants a boy or girl or to screen for any characteristic other than disease (e.g., height or intelligence) screening for gender is thus only acceptable when there is a family history of genderrelated diseases linked to the chromosome for the child´s gender Tay-Sachs Disease: Jewish Perspective there is an effort to have couples undergo genetic testing before marriage or shortly thereafter so that they know whether they need to have any future fetus of theirs tested for the disease an abortion of a fetus afflicted with Tay-Sachs would be warranted if parents allow the fetus to be born, no active measures may then be taken to hasten its death, and both the child and the parents must just wait out the ravage of the disease Tay-Sachs Disease: Jewish Perspective palliative care must be administred to make the child as comfortable as possible, but aggresively treating the child with medications, machines, or surgery to prolong life is neither necessary nor wise. Genetic counseling There are over four thousands genetic conditions, chromosome diorders, and birth abnormalities, that can result in miscarriage, stillbirth, death early in life or problems in childhood or adulthood Genetic counseling nondirectiveness; informed consent; confidentiality Genetic counseling This process involves an attempt by one or more appropriately trained persons to help the individual or family to (1) comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management (2) appreciate the way heredity contributes to the disorder, and the risk of recurrence in specified relatives (3) understand the alternatives for dealing with the risk of recurrence Genetic counseling (4) choose the course of action which seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards, and to act in accordance with that decision (5) to make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder. Genetic counseling Test results may be deeply troubling for those who receive a diagnosis of a genetic disorder or carrier status, raising fundamental questions of medical vulnerability, as well as personal and social image and identity. Individuals may perceive that they are "flawed," "imperfect," "defective," "inadequate," or "abnormal," or may have concerns that others will perceive them or their progeny in these terms Medical geneticists confront ethical dilemmas: croos-cultural comparisons among 18 nations by J.Fletcher and D. Wertz Fletcher and Wertz studied responses of medical geneticists in 18 countries. Of 1053 asked to participate, 677 (64%) responded in 1988 and 1990. The majority (92-94%) regarded nondirective approaches as appropriate Medical geneticists confront ethical dilemmas: Greater than 75% consensus disclosure of conflicting diagnostic finding disclosure of ambiguous results disclosure of controversial interpretations protection of mother´s confidentiality in cases of false paternity Medical geneticists confront ethical dilemmas: A majority (51-60%) would disclose the diagnosis to relatives at risk for Huntington disease against the patient´s wishes disclose which parent carries a translocation causing Down syndrome disclose XY genotyp in a female THE TUSKEGEE SYPHILIS STUDY THE TUSKEGEE SYPHILIS STUDY For forty years, from 1932 to 1972, 399 Afroamerican males were denied treatment for syphilis and deceived by officials of the United States Public Health Service as a part of a study, sharecroppers were told that they were being treated for „bad blood“. THE TUSKEGEE SYPHILIS STUDY At the start of the study, there was no proven treatment for syphilis. But even after penicillin became a standard cure for the disease in 1947, the medicine was withheld from the men. The Tuskegee scientists wanted to continue to study how the disease spreads and kills. The experiment lasted four decades, until public health workers leaked the story to the media. THE TUSKEGEE In fact, the physicians in charge of the study ensured that these men went untreated By then, dozens of the men had died, and many wives and children had been infected. The Presidential Apology " No power on Earth can give you back the lives lost, the pain suffered, the years of internal torment and anguish. "What was done cannot be undone. But we can end the silence. We can stop turning our heads away. We can look at you in the eye and finally say, on behalf of the American people: what the United States government did was shameful. "And I am sorry." Herman Shaw, Tuskegee Study participant, after the White House ceremony. "We were treated unfairly, to some extent like guinea pigs," THE TUSKEGEE 16 May, 1997 president Clinton apologized on behalf of the United States government to the surviving participants of the study. These men were invited to the White House to witness the apology The study has become a powerful symbol of racism in medicine, ethical misconduct in human research and government abuse of the vulnerable Discrimination We are not responsible for the genes we are equipped with it cannot be accepted that society adds stigmatisation to at risk persons´ burden a persons´genes shoul be considered as the individual´s own property Discrimination Kare Berg: I would like to see a system where it is explicitly forbidden for third parties to request genetic tests to ask if genetic tests have been conducted or if there is a genetic disease in the family The „third parties“: the employment or insurance market Convention on Human Rights and Biomedicine (Oviedo Convention) 1997 Article 11 – Non-discrimination Any form of discrimination against a person on grounds of his or her genetic heritage is prohibited. Nancy Wexler (president of Hereditary Disease Foundation): I´ve heard people say – including people in the Congress and even some scientists – that the public can be hurt by genetic information. It´s true that in the past that information has been used against people. But genetic information itself is not going to hurt the public; what could hurt the public is existing social structures, policies and prejudices against which information can ricochet. We need genetic information right now in order to make better choices so we can live better lives. We need the improved treatments that will eventually be developed using genetic information. So I think the answer is certainly not to slow down the advancing science, but to try, somehow, to make the social system more accomodating to the new knowledge. REPRODUCTIVE RIGHTS Some comments... "I find it interesting how some people so quickly reduce a disabled or ill person's life to a 'life of misery', and therefore a life that shouldn't be if at all possible. I would want to know how many disabled people those who hold such opinions actually know. It is possible to live a full life with disabilities - just more challenging." "I am 32 and still suffering from my father's hereditary disability and I can tell you that I hate him for that. He knew he will pass it on to any child of his and yet that wasn't bad enough. I regret his selfish attitude and I haven't spoken to or seen him in many years because of this. You are right to ask you some questions: make sure you find the right answers not just the ones that suits you." "The assumption that the less-abled live exclusively painful, distressing lives is troubling. Yes, it is hard and difficult. Are many of you really suggesting they are better of dead, or not existing at all? Perhaps you should ask a few disabled people. Yes, they suffer but few want to die, and those that do, require more care and love, not to hear that science should eradicate their very existence" http://www.nytimes.com/1999/04/25/nyregion/disabled-marriedtheir-own-mount-kisco-couple-are-among-those-withhandicaps.html