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CLINICAL GENETICS.
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Diagnosis of genetic disorders in fetuses, counseling of parents, terminating pregnancy, ethics.... More...
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Paper Abstract:
Diagnosis of genetic disorders in fetuses, counseling of parents, terminating pregnancy, ethics.

Paper Introduction:
Through genetic diagnosis and counseling many syndromes or diseases, such as myoclonic epilepsy (Hammans & et al., 1991, pp. 1311-1313), sickle cell disease (Granda & et al., 1991, pp. 152-153), and the X syndrome of mental retardation (Rousseau & et al., 1991, pp. 1673-1681) can be identified prenatally. These diagnostic procedures can save future parents the anguish of having children who cannot lead fulfilling and independent lives. However, medical science does not always answer the ethical question of whether such disorders warrant the termination of a pregnancy or a decision by a couple not to have children. In addition, the structure of the encounter between counselor and client makes non-directive genetic counseling in connection with prenatal diagnosis difficult. The offer of prenatal diagnosis and pregnancy termination

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One question genetic counseling must ask, is for what inheriteddisorders or congenital malformations in a fetus is it justified toterminate a pregnancy? Direct diagnosis by DNA analysis of thefragile x syndrome of mental retardation. Accordingto the prevailing non-directive model of genetic counseling, the decisionto terminate a pregnancy for a fetal or genetic abnormality is similarlyleft to the judgment of the parents. 999). Most western societies, in practice, permit termination of pregnancyon social grounds unconnected with genetic disease or fetal sex. The problem of low self-esteem in the physically andmentally handicapped also needs to be considered in a broader context. Afterappropriately non-directive counseling, it is always the family's freechoice as to what tests to have, and how to act on the results. Given thehistorical context of past abuses of human genetics, this professionalattitude is entirely understandable. The observation that some elderly people express support foreuthanasia is similarly relevant to debate on that topic, but does notrefute the charge that social pressure could induce some elderly people toundergo assisted death, to cease being a burden, when they would in factprefer to stay alive (Clarke, 1991, p. These effects must be studied in any attempt toevaluate such a program. Besides, to raise such issues mightunleash a host of ethical uncertainties that might shatter the moralconsensus in the field of genetic counseling. If one of theaims of genetic counseling is to contribute to the general welfare of thosewith genetic disease, then this must be reconciled with preventionprograms, at least for disorders where those affected are likely to befully aware of the prenatal diagnostic services on offer to their families. In conclusion, clinical geneticists must recognize theirresponsibility to ensure that the full costs of prenatal diagnosis andtermination of pregnancy are appreciated by prospective clients and byhealth service management. Such people find the subject ofprenatal diagnosis and termination of pregnancy degrading. (1991). 998).Prenatal diagnostic programs may also affect society as a whole, with long-term repercussions for the status of, and provision for, the mentally andphysically handicapped. To decide whether or not termination of pregnancy is warranted toprevent birth of a patient with a given disorder, it is essential toconsider not only the likely degree of mental or physical handicap causedby the condition and the severity of any suffering experienced by theaffected individual, but also the aims of clinical genetics, to see wheresuch testing fits in. 999). ReferencesClarke, A. The effects of the existence ofprenatal diagnosis or screening programs aimed at the termination ofpregnancies affected by specific inherited disorders on people with thosesame disorders must be examined. However, some argue that precedence should begiven to the welfare of existing affected individuals rather than to the"prevention of their successors." Some individuals affected by particulargenetic disorders are willing, and even eager, to help to prevent the birthof further, similarly affected individuals. The ethical question, central to the practice ofmedical genetics, is scarcely ever discussed by medical geneticists. Society is not willing to make such astatement, which would have profound implications for how women are viewedin society, and also for how women view themselves. 1 ). There has been atendency for molecular genetic and other fetal diagnostic tests to beadopted as a matter of course once they become technically feasible,without a careful assessment of the ethical issues involved. Lancet, 337, 1311-1313.Rousseau, F., & et al. If the primary aims of medical geneticists include the welfare of allthose with genetic disorders, but not the secondary prevention of geneticdisease by termination of pregnancy, it is difficult to judge the ethicalissues that surround prenatal diagnosis. (1991). (1991). In general, however, the offer of prenatal diagnosis implies arecommendation to accept that offer, which in turn entails a tacitrecommendation to terminate a pregnancy if it is found to show anyabnormality. Even if they do understand themedical prognosis, many couples find it difficult to continue with an"abnormal" pregnancy, and suffer whatever the decision they might take. The pace of advance in molecular and medical genetics is such thatclinical geneticists have to devote much effort to remain well informedtechnically. 999). Parental choice is overridden in these cases because terminationof pregnancy on the grounds of fetal sex when the reason is social ratherthan medical would be tantamount to a declaration that females are of muchless social value than are males. For this reason, there has been little ethical debate withinthe profession as to the aims and methods that should be adopted inclinical genetic practice (Clarke, 1991, p. One problem associated with prenatal diagnosis, especiallyamniocentesis for Down's syndrome, is the inadvertent discovery of anotherdisorder such as a sex chromosome aneuploidy (Clarke, 1991, p. Mitochondrial encephalopathies:Molecular genetic diagnosis from blood samples. 1 ). These aims are: to care for those with geneticdisorders, both medically and socially, including coordination of screeningmeasures to prevent or to ameliorate complications of such disorders; toresearch toward a full understanding of genetic diseases, so that thoseaffected and their families can be given a proper explanation for theirproblem; to work toward effective therapies for these disorders, by use ofgenetic information and technologies wherever appropriate; and to offerfamilies information about reproductive risks and reproductive options,including prenatal diagnosis, and to support families in the decisions thatthey take (Clarke, 1991, p. Lancet, 337, 152-153.Hammans, S.R., & et al. Therefore, the "Holy Grail" of non-directive counseling is unattainable, because the counselor's conscious oreven unconscious motives are irrelevant: the offer and acceptance ofgenetic counseling has already set up a likely chain of events ineveryone's mind. New England Journal ofMedicine, 325, 1673-1681.----------------------- 8 In one area, however, theavailability of termination of pregnancy is restricted--determination offetal sex and abortion of female fetuses on social grounds. Cuban program for prevention of sicklecell disease. The clinical role of the geneticists must alsobe broadened, with as much emphasis placed upon the practical, long-termcare of those affected by genetic disorders as upon prenatal diagnosis andintervention. Such programs are unlikely to raise theirself-esteem and can result in severe emotional difficulties: manyindividuals, such as those who are retarded, are distraught when they seeor hear of mental handicaps on television. These diagnostic procedures can save future parentsthe anguish of having children who cannot lead fulfilling and independentlives. 1673-1681) can beidentified prenatally. This sequence is present irrespective of the counselor'swishes or feelings, because it arises from the social context rather thanfrom the personalities involved--although the counselor may reinforce thesefactors (Clarke, 1991, p. Ifanything, the fact that some people affected by genetic disorders ofmoderate severity support prenatal diagnosis and termination supports thecontention that their lives are blighted by social, as much as medical,factors. Is non-directive genetic counseling possible?Lancet, 338, 998-1 1.Granda, H., & et al. If medical geneticists startto decide which disorders warrant the options of prenatal diagnosis andtermination of pregnancy, and move away from black-and-white toward shadesof gray, there possibly will not be an agreed upon line between theacceptable and the unacceptable. (1991). The offer of prenatal diagnosis and pregnancy termination for certaindisorders has secondary effects on the social and psychological welfare ofthe women whose pregnancies are terminated, and on the living affectedindividuals to whom there is also a responsibility (Clarke, 1991, p. Onejustification for this has been the claim that the ethical questions arefaced, and answered, by the families who consult genetic counselors: it istheir decision and the counselors do not interfere. 1311-1313), sicklecell disease (Granda & et al., 1991, pp. Many such pregnancies are terminated by couples who maybe older than average and who desperately want a child, but who have beentold that the fetus is abnormal and often do not know how common Turner'ssyndrome is--that it is not a cause of mental retardation, and that itrarely causes serious medical problems. Mostfetuses with Turner's syndrome that are diagnosed at amniocentesis done"for maternal age" would, if not so diagnosed, either abort spontaneouslyor result in the birth of a healthy girl who could lead a rewarding andindependent life. Although relevant to anydecision about the provision of genetic testing for such disorders, thisfact does not negate the issue of self-esteem that is raised here. The usual justification for such programs is the saving of resourcesthat would otherwise have been spent on caring for the affected individual(Clarke, 1991, p. Westerncultural values, such as concern about a woman's career plan, or the highcost to society of supporting a young, single mother, are regarded asgrounds for termination, whereas the social preferences of other culturesare not. 998). Through genetic diagnosis and counseling many syndromes or diseases,such as myoclonic epilepsy (Hammans & et al., 1991, pp. 152-153), and the X syndrome ofmental retardation (Rousseau & et al., 1991, pp. However, medical science does not always answer the ethicalquestion of whether such disorders warrant the termination of a pregnancyor a decision by a couple not to have children.In addition, the structure of the encounter between counselor and clientmakes non-directive genetic counseling in connection with prenataldiagnosis difficult.

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