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Atypical inheritance: new horizons for neurology.

Rediscovery of Mendel's laws produced an enthusiastic new discipline at the turn of this century. The eugenics movement had many disciples in the United States, and it should be noted that the term "final solution" was first used by the National Association of Charities and Corrections in the 1920s. American advocates of eugenics accomplished mass sterilization of retarded individuals and the prohibition of Jewish immigration from Germany during World War II. It is interesting that the close of this century has produced a similar revolution in genetics. These newer genetic mechanisms expose the major fallacy of eugenics: traits may be genetic without showing obvious familial transmission. Sanctions against reproduction or immigration thus will have little effect on the gene pool. The clinical implications of atypical inheritance are enormous. Almost every medical disorder must be reinvestigated for evidence of subtle chromosome changes, for worsening in progressive generations, and for influence of parental origin. The classical Mendelian model taught that extreme and rare phenotypes shed light on more frequent ones, hence the definition of genes responsible for hypercholesterolemia, for Alzheimer disease, and for amyotrophic lateral sclerosis. Atypical inheritance mechanisms further enhance this approach, bringing all of neurology under the light of genetic technology. The lure for the practitioner, then, is not the hyperbole of molecular biology; it is the need for a seasoned hand so emphasized by Huntington's disease and the duty to protect the next century from disasters of the current one.

Animals↗

[Morals, logic and ethics in reproductive medicine].

Human reproduction has always been a matter of philosophical interrogations and controversies. This situation has been reinforced by the technical evolution which has occurred during the past years. Both hopes and concerns have been raised at the same time. Two recent advancements deserve consideration and are given as demonstrative examples: intracytoplasmic injection of spermatozoon, preimplantatory diagnosis. Their consequences are very important for both the medical and the philosophical approach. One of the questions which arises at this occasion is to determine if research on pre embryos is legitimate or not. This evolution has provoked some reluctancy and several criticisms concerning the future of the children obtained by such techniques: the risk of slippery slope, possibly leading to a form of eugenics, and the fundamental and philosophical problem of the status of the embryo. However, behind these discussions a deeper and heavier controversial matter may be discovered; it deals with the role and the responsibilities of the governmental power. An opposition does exist between two different perceptions: on the one hand, the concept of a powerful governmental body, responsible for the respect of a statutory law, grounded on a sort of universal ethical rule, to be followed by all, a concept which bears the risk of totalitarianism; on the other hand, the concept of a law with a limited responsibility to protect public order, allowing a normal social life. Amongst the numerous responsibilities of the governmental power, one is often neglected, everywhere; its concerns the protection of the female life and health. Some examples are given. However the most frightening risk, much more dangerous than the frequently alleged risk of biological eugenics, is what can be called "economical eugenics". Again some examples are given, in all the systems of social protection. Submitted to ethical rules imposed by political and legal powers, and to the influence of economical forces, what will be the role and the responsibilities of the practitioner? Unfortunately the answer may be obvious: the only way is leading to a relinquishment of medical responsibility. Far away from the dialogue which was the rule of the "dual relationship" between the patient and the practitioner, away too from the more complicated situation of today, characterized by the intervention of "third parties", the evolution, probably unavoidable, appears to be towards the withdrawal of the psychological, moral, human and humanistic involvement of the practitioner, leading him or her to a technical role.(ABSTRACT TRUNCATED AT 400 WORDS)

Ethics, Medical↗

Lethal autonomy: the malfunction of the informed consent mechanism within the context of prenatal diagnosis of genetic variants.

In this article, Cara Dunne and Catherine Warren challenge the current role of genetic counselors in advising expectant mothers about potential genetic defects of their fetuses. They show that genetic counselors sometimes provide one-sided negative information to women undergoing prenatal diagnosis of genetic variants. This biased information promotes abortion of what are considered "defective" fetuses. The misleading information provided by the genetic counselors and the termination of the pregnancies is akin to the eugenics movement. The authors describe the early 20th century eugenics movement, explore the origin and development of the Human Genome Project, analyze the current role of genetic counseling, and explain the importance of the informed consent process to the exercise of autonomy. Dunne and Warren conclude by offering methods by which to restructure the informed consent mechanism to offer a more balanced assessment of the risks and benefits associated with genetic disability.

Abortion, Eugenic↗

Legal implications of sterilization of the mentally retarded.

For more than 50 years, sterilization of mentally retarded persons was an accepted practice in many states as a way to reduce the number of persons born with mental defects. In recent years, the practice has come under heavy challenge, both medically and legally. At present, only 19 states have statutes that allow sterilizations for eugenic reasons. This article examines important court decisions regarding eugenic sterilization laws and the legal status of sterilization of mentally retarded adults and minors, as well as the consequent legal implications for physicians. Federal funding restrictions on sterilization of mentally impaired persons are discussed. The requirement of voluntary, informed consent is considered in light of an increasing emphasis on the rights of mentally retarded persons as well as greater awareness of the psychological effects of involuntary sterilization.

Adolescent↗

The Virginia Racial Integrity Act revisited: the Plecker-Laughlin correspondence: 1928-1930.

Correspondence between Walter Ashby Plecker, Virginia State Registrar of Vital Statistics between 1912 and 1938, and Harry Hamilton Laughlin, Superintendent of the Eugenics Record Office at Cold Spring Harbor between 1910 and 1939, provides evidence of efforts to enforce the Virginia Racial Integrity Act of 1924. After antimiscegenation policy is placed in a historical context, excerpts from the letters are offered to demonstrate the zeal with which one state official pursued this "eugenic" policy.

Eugenics↗

The biography of psychiatric genetics: from early achievements to historical burden, from an anxious society to critical geneticists.

When the study of human inheritance became a topic of scientific interest more than 100 years ago, brain function and mental disease immediately attracted the interest of researchers. Psychiatric genetics was dominated from its early beginnings by the question of nature and nurture. Today this problem can be quantitatively approached with odds ratios and attributable risks for certain genotypes. The false doctrine of eugenics and its practical application by the Nazi regime paved the way for the development of a prevailing anxiety in society that psychiatric genetics might lead to stigmatisation or even a revitalization of eugenics. The major challenge for the field, however, stems from the attitudes of fellow geneticists who doubt that genetics can ever contribute to an understanding of brain function and mental disease. Whereas genetically complex traits are being successfully pinned down to the molecular level in other fields of medicine, psychiatric genetics still awaits a major breakthrough. Although mental disorders are harder to tackle than any other complex disease the concepts developed and the methods available today are powerful enough to predict a bright future of the field.

Eugenics↗

International Genetic Epidemiology Society: commentary on Darkness in El Dorado by Patrick Tierney.

The International Genetic Epidemiology Society (IGES) has examined the charges against James V. Neel and his colleagues contained in the recently published book by Patrick Tierney entitled Darkness in El Dorado: How Scientists and Journalists Devastated the Amazon (W.W. Norton, 2000). The book implicates Neel in causing or promoting an epidemic of measles among the Yanomamö Indians of Venezuela in 1968 leading to "hundreds if not thousands" of deaths by using a "dinosaur" vaccine (Edmonston B) as a deliberate "experiment" to test his "eugenic" theories. Tierney also attempts to link this research, funded by the Atomic Energy Commission (AEC), with a broader tapestry of human radiation experiments. To investigate these serious charges, the IGES undertook a thorough examination of most source documents referenced in Tierney's book, Neel's field logs, notes, first-hand reports, contemporary writings, film sound tracks, etc., and conducted interviews with many relevant persons. The IGES finds that these allegations are false. Neel was not a eugenicist and was in fact highly critical of both the scientific basis of eugenics and its coercive social policies. In this regard, Tierney has grossly misrepresented Neel's views on a wide range of social implications of modern civilization for the long-term health of the gene pool. Far from causing an epidemic of measles, Neel did his utmost to protect the Yanomamö from the ravages of the impending epidemic by a vaccination program using a vaccine that was widely used at the time and administered in an appropriate manner. There was nothing experimental about the vaccination program, which in fact severely hindered the primary scientific objectives of the expedition. Although the research was funded in large part by the AEC, there was no element of radiation research and the work had no connection with the ethical abuses that have been reported from AEC-sponsored radiation research, such as studies of heavy isotopes. Neel's seminal contributions to a broad range of topics in human genetics have been extensively chronicled elsewhere. His research on the Yanomamö in particular has provided unique insights into the evolutionary biology of our species, the role of sociocultural practices, such as kinship relationships and selective pressures in shaping the genetic diversity of primitive population isolates, as well as the general picture of health in such populations. The IGES decries the damage done to the reputation of one of its founders and its first President and the misperception this book may have caused about the conduct of research in genetic epidemiology. Ethical issues about scientific research in primitive populations deserve serious and wide discussion, but the IGES condemns the gross misrepresentation of the facts and demonization of the principal characters in this book.

Bioethics↗

Harnessing heredity in Gilded Age America: middle class mores and industrial breeding in a cultural context.

By investigating the practices and beliefs of Gilded Age trotting horse breeders, this article demonstrates the relationship between industrial economic development and the growth of genetic reasoning in the United States. As most historians of biology already know, E. H. Harriman, Leland Stanford, and John D. Rockefeller not only transformed American business practice, they donated heavily to institutions that promoted eugenic research programs. What is not widely known, however, is that these same industrialists were accomplished trotting horse breeders with well-developed theories of inheritance. The article that follows uses these theories to place the rise of eugenic and genetic research into the context of the rapid development of industry in post Civil War America. Specifically, the study identifies how functional utility as defined through the narrow concerns of industrial practices were privileged over form and pedigree in American horse breeding. Even more importantly, this article suggests that the continuity established between the practices of the industrial philanthropists and the scientific research institutions that they established occurred at two levels: through the values privileged by the development of the dynamics of a mass society and through the tools used to process the large amounts of information necessary to understand breeding patterns in slow breeding organisms.

Animals↗

Human gene therapy and the slippery slope argument.

The article investigates the validity of two different versions of the slippery slope argument construed in relation to human gene therapy: the empirical and the conceptual argument. The empirical version holds that our accepting somatic cell therapy will eventually cause our accepting eugenic medical goals. The conceptual version holds that we are logically committed to accepting such goals once we have accepted somatic cell therapy. It is argued that neither the empirical nor the conceptual version of the argument can provide a conclusive moral reason for banning somatic cell therapy. According to a third interpretation, referred to as the arbitrary result argument, the many apparent similarities between somatic cell therapy and eugenic-based human genetic engineering drive us to make principled choices concerning what differences and similarities between the two practices should be regarded as morally (ir)relevant. Decisions of this kind are likely to have unpredictable moral consequences. Thus formulated, the slippery slope argument has much plausibility. One objects to somatic cell therapy not so much because of what is at the bottom of the slope on which it lies, but because it is on a slope of which one does not know what is at the bottom. While the arbitrary result argument does not provide a conclusive reason for prohibiting human gene therapy, it reminds of a very important thing: when making bioethical decisions, we should be as specific and as consistent as possible about our basic moral and medical concepts.

Ethical Analysis↗

Genetic aspects of population policy.

Every science begins in folklore and matures as it reacts against dogma and myth. Astronomy developed in the Neolithic, but it did not outgrow astrology until the sixteenth century. Chemistry discarded alchemy at about the same time. On the contrary, the short history of genetics has been concurrent with the pseudo-science of eugenics, which, at times, has been widely accepted and incorporated in population policy and directive genetic counselling, with rare opposition by geneticists. Societal pressures are likely to increase with the power of genetic technology, the fear it generates and the perception that population growth threatens human welfare. Without a pertinent ethical code, geneticists are vulnerable to both temptation and opprobrium. The intrusion of eugenics into genetic counselling has been a recent source of concern to societies and congresses of genetics. This review traces the causes of this concern and the manner of its expression in the absence of an international voice for genetics that could address ethical and other common interests.

Eugenics↗

[Induced abortions in the Third Reich. Legal basis and provision].

This article analyses, after introductory comments on the legal situation in the German Empire and the Weimar Republic, the legal basis for induced abortions during National Socialist rule in Germany. During this period the first legal definition for eugenically and medically indicated abortions was established. At the same time the prohibition of induced abortions outside these criteria was controlled more strictly and violations were punished more severely. This concerned abortions mainly for social reasons. The intention was to legalize abortion for those deemed "less worthy" while, at the same time, to minimise the number of abortions of those considered as "more valuable" to society. The main thrust of this policy was to increase the birth rate of "valuable" citizens. The second part of this paper focuses on eugenic and medical abortions at the University of Freiburg's Maternity Hospital.

Abortion, Induced↗

Gene therapy: where to draw the line.

The four classifications of genetic manipulation (somatic cell gene therapy, germ-line gene therapy, enhancement genetic engineering, eugenic genetic engineering) are reviewed from an ethical viewpoint. Immediately, it needs to be recognized that words like "therapy," "enhancement," and "eugenic" already possess an emotional framework, so that careful reasoning is made more difficult. In each of the areas of genetic manipulation, it can be argued that circumstances could be imagined that would either justify or not justify proceeding. Based on our present state of knowledge, the line should be drawn at not carrying out gene therapy of any type except in specific cases that are carefully evaluated in advance. With increased knowledge, the line should be moved to embrace appropriate situations.

Ethical Analysis↗

Genetic disorders and the ethical status of germ-line gene therapy.

Recombinant DNA technology will soon allow physicians an opportunity to carry out both somatic cell- and germ-line gene therapy. While somatic cell gene therapy raises no new ethical problems, gene therapy of gametes, fertilized eggs or early embryos does raise several novel concerns. The first issue discussed here relates to making a distinction between negative and positive eugenics; the second issue deals with the evolutionary consequences of lost genetic diversity. In distinguishing between positive and negative eugenics, the concept of malady is applied as a definitional criterion for identifying genetic disorders that could qualify for germ-line therapy. Because gene replacement techniques are currently unavailable for humans, and because even if they were possible the number of people involved would be quite small, the loss of diversity concern seems moot. Finally, we discuss the issue of iatrogenic disorders associated with gene therapy and discuss several 'real world considerations.'

Biological Evolution↗

Fifty years after the Nuremberg Nazi Doctors' Trial: reviewing how the laws of the Third Reich applied to individuals with oral clefts.

The Nazi Doctors' Trial, held in the city of Nuremberg 50 years ago, is a landmark in the history of medicine and science. For the first time, the horrors inflicted by a group of German scientists on innocent victims became widely known. Most of the defendants received sentences that ranged from relatively short imprisonment to death. The Trial also provided elements to develop standards for permissible medical experimentation, known as the Nuremberg Code. The atrocities judged in the Nazi Doctors' Trial, however, were not isolated. They were part of an overall eugenic system that encouraged euthanasia, compulsory sterilization, and selective marriages based on "genetic health" and "racial hygiene." Individuals with oral clefts were considered subject to these laws and suffered their consequences. This paper describes the main features of the Trial, reviews the state of knowledge on oral clefts in the 1930s and 1940s, presents how the laws of the Third Reich impacted the lives of individuals with oral clefts, and speculates on the implications of past and present eugenic policies in the future of humankind.

Child↗

Designing babies: morally permissible ways to modify the human genome.

My focus in this paper is the question of the moral acceptability of attempts to modify the human genome. Much of the debate in this area has revolved around the distinction between supposedly therapeutic modification on the one hand, and eugenic modification on the other. In the first part of the paper I reject some recent arguments against genetic engineering. In the second part I seek to distinguish between permissible and impermissible forms of intervention in such a way that does not appeal to the therapeutic/eugenic distinction. If I am right much of what we would intuitively call eugenic intervention will be morally acceptable. Central to my argument is an asymmetry in the way genetic engineers can influence a person's capacities on the one hand and life-goals on the other. Forms of genetic intervention that have a high probability of producing a mismatch of life-goals and capacities will be ruled out.

Biology↗

What counts as success in genetic counselling?

The question of what counts as a successful outcome of the process of genetics counselling has recently become central because of the increasing calls for efficiency in health care, and for means of measuring efficiency. Angus Clarke has drawn attention to this trend, and has argued against both a measure in terms of the number of terminations of pregnancy performed as a result of counselling, and an assessment in terms of the contribution of genetics counselling to a national eugenics policy. He suggests instead a measure of workload. There are good arguments for supporting Clarke's position up to a point. In looking for an appropriate measure, much turns on how genetics counselling is defined. It is here understood in the context of an autonomy model of health care. It is argued that there is a contradiction between such an interpretation and the termination measure of outcome. The political philosophy underlying this outcome is also defective. Workload is not sufficient as a measure of outcome however; it is essential to look at the proper goals of an activity. It is argued that these must be connected in some way with the genetic health of the population; that the promotion of reproductive autonomy itself is not sufficient as a goal. The concern for genetic health, however, is interpreted in a way that avoids Clarke's concerns about a national eugenics policy.

Abortion, Eugenic↗

Protecting the social body: use of the organism metaphor in fighting the "menace of the feebleminded".

Although persons with developmental disabilities living in the United States have been treated in a pejorative manner at various times throughout the nation's history, the eugenics era (1900-1930) stands out as a time when such individuals-then referred to as "feebleminded"--were subject to particularly extreme indignities. Numerous methods of dehumanizing such persons were employed during this era. Of special significance was the use of the organism metaphor, whereby the "unfit" members of society were compared to a parasite, cancer, virus, or plague infecting the social body. The use of rhetoric advancing the organism metaphor in eugenic writing is described in this paper as is the effect that such rhetoric had on the societal response to such persons.

Eugenics↗

Notions of heredity in the correspondence of Edwin Grant Conklin.

This article examines five letters from the correspondence of American zoologist Edwin Grant Conklin that highlight his theories of genetic and social inheritance, in order to suggest that Conklin's eugenic beliefs--like those of many American authorities during this time--were complex and sometimes contradictory. The letters reveal the international prestige of American science after the two world wars and illuminate key moments in the emergence of the concepts of heredity and inheritance, within both the science of genetics and the social movement of eugenics.

Correspondence as Topic↗