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The Reference Institute of Bioanalysis of the German Society of Clinical Chemistry has performed the first external assessment of molecular genetics methods used in medical diagnosis. The following procedures were tested: (I) DNA preparation from whole blood, (II) PCR amplification using "standard" primers, and (III) submarine agarose gel electrophoresis. Out of 50 participants, 45 returned samples for evaluation.

Two are the principal ethical problems to be faced by the genetic epidemiological research. One has to do directly with the "creation" and "managing" of genetic information about the basic unit of the genetic epidemiological studies, that is the family. This will possibly aggravate all the difficulties regarding the subject recruitment, the informed consensus, the confidentiality of genetic results as well as their disclosure to study participants. The other concern is the potential conflict between the interests of the individual and those of the society that could arise when a screening program focused to high risk groups is implemented. Both the aspects will be discussed, according to the recent literature. The methodological work done by Muin Koury on genetic screening and public health issues will be presented.

To determine consistency in usage of pedigree symbols by genetics professionals, we reviewed pedigrees printed in 10 human genetic and medical journals and 24 medical genetics textbooks. We found no consistent symbolization for common situations such as pregnancy, spontaneous abortion, death, or test results. Inconsistency in pedigree design can create difficulties in the interpretation of family studies and detract from the pedigree's basic strength of simple and accurate communication of medical information. We recommend the development of standard pedigree symbols, and their incorporation into genetic publications, professional genetics training programs, pedigree software programs, and genetic board examinations.

Much of the current interest in genetics stems from the Human Genome Project. Although the project will accelerate the identification of disease-related genes, as currently formulated it may retard discovery of gene function and effective treatments, thereby prolonging the stage in which people at risk of genetic diseases can be identified but not treated. This stage is fraught with ethical problems. The project's goal of sequencing the entire human genome could also detract from basic biological research, as could the growing interest of universities in biotechnology transfer to the commercial sector.

Assessment of the impact of genetic technologies requires an understanding of the ethical issues that such technologies raise, which in turn requires an understanding of the social context of genetics. This article discusses 10 factors that characterize the social context of contemporary genetics, and considers two presumptions that usually are unquestioned--first, that more choice is always better; second, that what can be improved should be improved. Recent experience with genetic screening and testing to increase reproductive choice indicates that it is sometimes an ambiguous good. Prenatal testing, which has been guided by an ideology of nondirective counseling, will become increasingly problematic as the menu of possible genetic tests grows longer, because nondirectiveness offers no way to distinguish between significant disease and parental whim. In the realm of reproduction, more choice may also come to mean increasing parental responsibility to have genetically "healthy" offspring. Technologies intended to improve health outcomes may also be used for non-health-related goals--such as to increase athletic performance or to capitalize on social prejudices. Genetic technologies increasingly will challenge the troubled distinction between therapy and enhancement.

There is concern that human applications of modern genetic technologies may lead inexorably to eugenic abuse. To prevent such abuse, it is essential to have clear, formal principles as well as algorithms for distinguishing genetics from eugenics. This work identifies essential distinctions between eugenics and genetics in the implied nature of the social contract and the importance ascribed to individual welfare relative to society. Rawls's construction of 'justice as fairness' is used as a model for how a formal systems of ethics can be used to proscribe eugenic practices. Rawls's synthesis can be applied to this problem if it is assumed that in the original condition all individuals are ignorant of their genetic constitution and unwilling to consent to social structures which may constrain their own potential. The principles of fairness applied to genetics requires that genetic interventions be directed at extending individual liberties and be applied to the greatest benefit of individuals with the least advantages. These principles are incompatible with negative eugenics which would further penalize those with genetic disadvantage. These principles limit positive eugenics to those practices which are designed to provide absolute benefit to those individuals with least advantage, are acceptable to its subjects, and further a system of basic equal liberties. This analysis also illustrates how simple deviations from first principles in Rawls's formulation could countenance eugenic applications of genetic technologies.

Recent advances in genetic identification and characterization of a number or hereditary disorders have led to increased possibilities for genetic testing and screening. The context and methods of screening are important given that identification of otherwise healthy persons as being presymptomatic or at increased risk for genetic diseases may have serious consequences for their future lifestyle, employment, and insurability. This article examines general principles for genetic screening, including goals, delivery issues, and professional and lay responses to screening and counseling, and recommends areas in which social psychological research on screening is needed.

Preimplantation genetics describes a newly-emerging field in medical genetics, the consequence of the implementation of clinical preimplantation diagnosis and the likely future development of germ-line gene therapy. Given the existing clinical and laboratory difficulties already demonstrated in preimplantation diagnosis and the sensitive ethical issues surrounding genetic manipulation of human embryos, there is a need for 1) critical and objective evaluation of developments in this field by human and medical geneticists and 2) development of guidelines for research and clinical practice in the years ahead. We propose a course of prospective action for preimplantation genetics implemented through the newly-formed American College of Medical Genetics in order to address the ethics, safety, accuracy, cost, and overall merit of preimplantation genetics.

The scientific community is becoming aware that mankind has started to directly manipulate the mechanisms that transmit life and guide our species evolution. These facts are overflowing the traditional concepts about humanism and medical ethics, with an unpredictable scope. Presently we are conscious that there is an universal and biological order that rules life in our planet. At the molecular level there is an hereditary order and scientists have established the "central dogmas" of molecular biology and "genetic creed" of Mendelian theory in population genetics. The biotechnological revolution of the last decades is dismantling the normal processes of biological balance through the early detection and healing of defects, the manipulation of reproduction and the rupture of species boundaries with interspecies hybridization. All these issues open debates about the ethical limits of scientific research freedom. As a consequence, the dictation of genetic ethical codes has been proposed and statements that restrain genic therapy methods, genetic heritage manipulation and the patent right for DNA sequences, have been approved. The Valencia Statement (1990) on ethics about human genome tries to conciliate and establish a minimal consensus among scientists. However it seems that we are tearing down the frontiers that keep the sanctuary of biological order closed and damaging the twentieth century science dogmas.

Clinical genetics encompasses all ethical issues in medicine and health care. Geneticists, like all health care practitioners, regularly encounter problems of truth telling, paternalism, confidentiality, and rationing. The facts and circumstances under which familial ethical questions arise differ among specialties, but the underlying ethical questions cut across disciplines. The purpose of this article is to provide a review of the ethical issues that commonly arise in the clinical practice of genetics. Accordingly, the goal is primarily to identify common positions and justifications for various approaches as well as to identify consensus where they seem to exist.