Ethical aspects of medical genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening.
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Biomedical subjects
Publications and source records attributed to J C Fletcher.
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This paper reviews past, present and future social and ethical considerations of screening carriers of autosomal disorders and other heterozygotes. A body of ethical and social guidance has evolved in the 1970's and 1980's for screening. The values of voluntaristic participation and informed consent are high. The goal of programs should be to provide couples, families, and individuals with knowledge respecting their reproductive choices. The dangers are coercive strategies, stigmatization, and careless communication of risk information. It is assumed that the number of autosomal carrier states that are screenable will undoubtedly increase as will states of heterozygosity that cause susceptibility to common diseases. Before the end of the century, something approaching a "biopsy of the human genome" will be a practical reality. To balance the potential for harmful psychological and social effects of so much new genetic knowledge, new efforts must be made to find treatments for progeny affected by recessive disorders. Maternal and paternal screening, prenatal diagnosis and treatment will be increasingly linked in the future. This paper will report on a case of fetal therapy for congenital adrenal hyperplasia as a paradigm for the future. The argument will be made that society ought to put a higher priority on prenatal care and prevention of disorders of prematurity than genetic disorders with a low frequency, lest genetic screening be distorted by unfounded concern about eugenics.
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Unless present trends change, in the next few years the public will see earlier and safer methods of prenatal diagnosis combined with more efficacious methods of fetal therapy. For some time to come, the power to diagnose will far outstrip the power to treat, but with sufficient research and resources, the 2 activities of fetal medicine will assume more balance. The effect of conjoining therapy to diagnosis will bring about a more ethical balance between the immediate risks and benefits of prenatal diagnosis. Abortion will not cease to be a controversial issue in the context of fetal medicine, but the ability to offer treatment to more affected fetuses will create more assurance that progress in diagnosis and treatment will not be halted due to legal and constitutional efforts to protect the life of the fetus. At the same time, special attention should be paid to the mother, father and extended family of the fetus diagnosed for a treatable disorder. Careful discussion and clear communication may prevent misunderstandings and surface family problems that could arise at the last minute to complicate the mother's consent to treatment. When the risks are significant for the mother and the benefits of treatment are unclear, there should be no suggestion or appearance of pressure on her to agree. The same principle should apply even when the risks to the mother are minimal and the benefits to the future child are unclear.
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The argument of this paper is that sex selection, except to avoid sex-linked disorders, is unethical. Two reasons are given: 1) Prima facie examination of any argument for sex selection cannot overcome the unfair and sexist basis of a choice to select the sex of a child. The desire to control the sex of a child is not rational, since any claim that is made for the parents' preference for one sex can be demonstrated to be provided also by the other sex. 2) On an examination of the consequences of sex selection, if it were practiced by parents in significant numbers, the harmful consequences would far outweigh the few fleeting beneficial consequences. The hypothesis that sex selection might reduce population in less developed or overpopulated nations cannot be demonstrated without violation of ethical principles of fairness and beneficence. The paper clarifies and, to an extent, revises a position taken earlier by the author on sex selection by amniocentesis. In an effort to argue that the motives of parents who desire to choose the sex of their child should not be singled out for harsh judgment in societies that allow abortion, the author's position about the ethics of sex selection itself was not directly stated. This paper attempts to strengthen the ethical content of the author's views and recommends a policy for physicians who receive requests from parents to assist them in sex selection.
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This paper traces the evolution of the role of an applied bioethicist in the research hospital of the National Institutes of Health (NIH). The historical background of the NIH's leaders' development of a policy to protect human subjects is presented as prelude to a need for an "on-the-scene" ethicist in clinical research. The first year's work was marked by communication problems and role conflicts. Following a period of evaluation, with the help of a psychiatric consultant, a support system was fashioned for the new role that helped it evolve more effectively. The bioethicist's role as teacher, consultant, and bridge to authority is described. Case examples are included that depict the kinds of ethical problems in clinical research for which consultation is sought from a bioethicist.
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Traumatic diaphragmatic hernia, whether of blunt or penetrating etiology, is difficult to diagnose in the acute phase. The lesion is presently best diagnosed by chest X-ray, but only occasionally. Chest X-ray appears normal or nonspecific 25 to 50% of the time. For this reason, simple diagnostic technique using radiographic methodology available in emergency rooms was studied in animals in order to devise a way to diagnose this injury. Eight per cent diatrizoate meglumine and diatrizoate sodium (Renografin, Squibb) was placed into the chest or abdomen of animals with either 8-cm simulated blunt or 5-mm simulated penetrating injuries. The Renografin was infused by either a peritoneal lavage or thoracostomy catheter. Serial X-rays showed diagnostic rate of transdiaphragmatic leakage in 24 of 26 animals with blunt injury and seven of 16 animals with penetrating injury. There was no evidence of pleural, peritoneal, or pulmonary injury from the Renografin itself. It was concluded that the experimental technique may prove useful in screening or confirming traumatic diaphragmatic hernia during the acute or latent phases.
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