Clinical genetics services have become an integrated part of health care in nearly all European countries. The emphasis has been on postnatal cytogenetic, biochemical, and DNA diagnosis of congenital disorders, carrier detection, genetic counseling, and prenatal diagnosis. Use has been satisfactory, and very few ethical problems have arisen, apart from moral objections against abortion by minority groups. The progress of human gene mapping is associated with new perspectives in clinical genetics and will enable the identification of people at risk of major adult diseases. This prospect has caused some concern about psychosocial and ethical issues that are being dealt with in different ways in various postindustrial societies. In future decades, however, 95% of the world's population increase will occur in developing countries. In most of these countries, a low per capita income, female illiteracy, low rates of contraceptive use, teenage pregnancy, and religious and traditional cultural factors are major complications of implementing genetic services at a global level. There are, however, some exceptions, which are discussed.

This article presents a preliminary and necessarily tentative and subjective assessment of the impact of new gene technology on health care costs. In the short term, diagnosis and treatment of genetic disease are likely to increase costs. Treatment with nongene therapy will continue to be far less expensive than gene therapy where it is available. Research developments to monitor as indicators of forthcoming cost reductions in genetic therapy are set forth. Some forms of genetic screening may soon reduce health care costs, and an example is provided. Genetically engineered Pharmaceuticals are described and their impact on costs reviewed. Conditions under which they are likely to reduce health care costs are indicated.

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.

It has been 20 years since the concepts that are now embraced in the term recombinant DNA technology were first described. The technology has been used to design new vaccines, and one product — that for hepatitis B — has been in widespread use for almost a decade. Several other engineered vaccines have shown considerable promise in laboratory trials. Nevertheless, the potential of the approach is still to be realized. This article describes the principles that are involved in the design of these new vaccines, focusing on those for hepatitis B and rabies.

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.

Prenatal diagnosis is now offered to the majority of pregnant women in Europe and the United States. Advances in obstetric and laboratory techniques mean that increasing numbers of conditions can be diagnosed prenatally; indeed, gene carriers can be identified before pregnancy in some cases. Current obstetric and laboratory techniques for prenatal screening and diagnosis of genetic disorders are discussed.

Several routine procedures are available for diagnosis of diseases caused by an alteration in a single gene. These techniques include Southern analysis, the polymerase chain reaction, allele-specific oligonucleotide screening, automated DNA nucleotide sequencing, and linkage analysis. DNA testing procedures can be used for diagnosis of disease, determination of carrier status in affected families, or general screening of the population. Some of the more commonly used techniques and their applications are described in this article.

Our understanding of the genetic changes that transform normal cells into malignant cells is increasing at a remarkable pace. Some of the changes involve detectable cytogenetic aberrations, whereas others are identifiable only at the molecular level. Many of the structural cytogenetic changes have also been defined molecularly because the genes involved have been cloned. Thus, we are approaching the stage in which the DNA obtained from tumor tissue can be analyzed to detect the presence of a series of chromosomal and molecular alterations. These studies provide important information regarding the precise diagnosis of the tumor type as well as prognostic information about the likely response to therapy and survival.

In less than four years, the techniques of gene transfer have been taken from the laboratory and translated into numerous clinical trials. Although gene therapy was initially designed for the molecular repair of monogenic deficiency diseases, most of the current studies of gene therapy are targeting cancer.

The influences of four principal types of decision makers on the acquisition of magnetic resonance imagers were measured in hospitals in Southern California, Oregon, and Washington. We propose that of the decision makers assessed, physicians had the most influence on the acquisition of magnetic resonance imagers.

The costs included in economic evaluations of health care vary from study to study. Based on the theory of cost-benefit analysis, the costs that should be included in an economic evaluation are those not already included in the measurement of willingness to pay (net willingness to pay above any treatment costs paid by the individual) in a cost-benefit analysis or in the easurement of effectiveness in a cost-effectiveness analysis. These costs can be defined as the onsumption externality of the treatment (the change in production minus consumption for those included in the treatment program). For a full economic evaluation, the consequences for those included in the treatment program and a caring externality (altruism) should also be added.

The direct and indirect costs of acute myeloid leukemia were estimated for Sweden in 1989. The calculated total cost was SEK 460 million. Nearly half of the costs, or 1.7 million per patient diagnosed, were indirect costs due to premature mortality. Direct costs of relapses and indirect costs of mortality represent costs due to the absence of completely curable therapy. They also represent potential cost savings that could be ootained after introduction of new treatment options in the future.

We describe the effects on costs, working patterns, and clinical behavior of installing a DAX “discretionary” biochemistry analyzer. Use of the new analyzer encouraged doctors to be more specific in requesting biochemical tests, which substantially reduced the number of tests requested and slightly reduced overall costs. Doctors preferred being able to order tests in this more specific way.

An educational model is presented that stresses the importance of the interaction between individual characteristics and intentional educational influences on outcome variation. This model is exemplified by an interventional study of patients with insulin-dependent diabetes mellitus who, despite long-term conventional medical treatment, had been unable to achieve satisfactory hemoglobin Aic levels. Treatment modes and their importance for understanding variations in outcomes are discussed from the interactional perspective suggested in the model.