Consent and privacy in pharmacogenetic testing.

The clinical use of pharmacogenetic drugs will require that a sample of a patient's DNA be tested before a drug is prescribed. Although pharmacogenetic tests pose fewer risks than genetic tests for disease mutations, they might still reveal personal information that could be used adversely to a patient's interests. Informed consent and privacy of pharmacogenetic test results may be essential in most clinical uses of pharmacogenetic drugs.

We're off to see the genome.

We discuss some societal and legal ramifications of the human genetics revolution. Our reflections were stimulated by discussions among scientists, citizens and legal experts at a large public symposium. We outline key issues regarding oversight of genetic research on human subjects, banking of DNA data by governments and corporations, the potential impact of behavioural genetics and effects upon racial and racist thinking. We contend that, in some cases, well-intentioned but naive efforts to protect the rights of individuals and groups may hurt everyone by blocking the progress of useful research.

Will tomorrow's medicines work for everyone?

Throughout much of the world, 'race' and 'ethnicity' are key determinants of health. For example, African Americans have, by some estimates, a twofold higher incidence of fatal heart attacks and a 10% higher incidence of cancer than European Americans, and South Asian- or Caribbean-born British are approximately 3.5 times as likely to die as a direct result of diabetes than are British of European ancestry. The health care that people receive also depends on 'race' and 'ethnicity'. African Americans are less likely to receive cancer-screening services and more likely to have late-stage cancer when diagnosed than European Americans. Health disparities such as these are one of the greatest social injustices in the developed world and one of the most important scientific and political challenges.

Forensic genetics and ethical, legal and social implications beyond the clinic.

Data on human genetic variation help scientists to understand human origins, susceptibility to illness and genetic causes of disease. Destructive episodes in the history of genetic research make it crucial to consider the ethical and social implications of research in genomics, especially human genetic variation. The analysis of ethical, legal and social implications should be integrated into genetic research, with the participation of scientists who can anticipate and monitor the full range of possible applications of the research from the earliest stages. The design and implementation of research directs the ways in which its results can be used, and data and technology, rather than ethical considerations or social needs, drive the use of science in unintended ways. Here we examine forensic genetics and argue that all geneticists should anticipate the ethical and social issues associated with nonmedical applications of genetic variation research.

Genomics and future biological weapons: the need for preventive action by the biomedical community.

There is an increasing concern within both the scientific and security communities that the ongoing revolution in biology has great potential to be misused in offensive biological weapons programs. In light of the 11 September tragedy, we can no longer afford to be complacent about the possibility of biological terrorism. Here we review the major relevant trends in genomics research and development, and discuss how these capabilities might be misused in the design of new bioweapons. We also discuss how the breakthroughs that have come from the genomics revolution may be used to enhance detection, protection and treatment so that biological warfare agents are never used.

Communal discourse as a supplement to informed consent for genetic research.

Genetic technologies present unique problems for the practice of informed consent. They provide information that may affect a study participant's family or kindred, which may be identifiable as an ethnic or locally isolated population. That information may be used to construct adverse perceptions of such identifiable populations, including non-participants who may not have been informed of or consented to the analyses. To address collective implications of genetic research, we describe a process that can supplement individual consent. Our approach engages pre-existing social units in discourses about proposed research. Communal discourses can influence individuals' decisions to participate in research studies.

Protecting communities in research: current guidelines and limits of extrapolation.

As genetic research increasingly focuses on communities, there have been calls for extending research protections to them. We critically examine guidelines developed to protect aboriginal communities and consider their applicability to other communities. These guidelines are based on a model of researcher-community partnership and span the phases of a research project, from protocol development to publication. The complete list of 23 protections may apply to those few non-aboriginal communities, such as the Amish, that are highly cohesive. Although some protections may be applicable to less-cohesive communities, such as Ashkenazi Jews, analysis suggests substantial problems in extending these guidelines in toto beyond the aboriginal communities for which they were developed.

Ethical issues in genetic research: disclosure and informed consent.

As research to correlate genetic status with predisposition to disease has accelerated, so has the concern that participation in such studies creates the risk of genetic discrimination and emotional distress. There is a need to broaden disclosure during the consent process to ensure that potential subjects understand these risks and other issues and to address them in the consent form. We describe the broad approach that we have taken in regard to disclosure and consent in gene mapping studies.

Genetics and insurance in Britain: why more than just the Atlantic divides the English-speaking nations.

The British Government's official advisory committee on genetics has recommended a moratorium on the disclosure of genetic test results for life insurance until predictions based on such tests can be validated as actuarially important. In contrast, the trade association of the British insurance industry believes that genetic tests relating to eight conditions can yield information useful for life insurance. Although the Government has yet to respond, the debate is already moving on to genetic testing and the funding of health care for the elderly.

Status, sale and patenting of human genetic material: an international survey.

Following a decade of debate, the European Directive on the Legal Protection of Biotechnological Inventions was adopted by the European Parliament and the Council of the European Union on July 6, 1998. The Directive constitutes a legal and social policy landmark in biotechnology, taking an explicit position on the contentious issue of the patentability of higher life forms. It fails, however, to provide definitive statements on the legal status of human genetic material or the possibility of personal financial gain in relation to such material. An overview of the international, regional and national positions (as found in laws and official policy statements) on the status, commodification and patentability of human genetic material indicates that, although the Directive represents a consolidation of opinions, many issues remain unresolved.

The Human Genome Project after a decade: policy issues.

The Human Genome Project began a decade ago, its early momentum fueled by two reports. A report from the National Research Council (NRC) in February 1998 endorsed the project and provided the basis for the first joint plan by the National Institutes of Health (NIH) and the Department of Energy (DOE). A report from the Office of Technology Assessment (OTA) in April 1988, provided Congress with a means to assess the roles of NIH and DOE. Both reports highlighted the importance of genomics and emphasized the need for a concerted research program. The committees did not predict the large investment of private funds or the extensive patenting of sequences, and they underestimated the rate of progress. Overall, though, the consensus-building provided by the committees helped to set the blueprint for one of the great success stories in modern biology.

The economic impact of the assisted reproductive technologies.

Thousands of cycles of in vitro fertilization (IVF) are performed each year. In the US, multiple births occur after 39% of IVF cycles, whereas in Europe, the figure is 26%. Indeed, multiple births are a major factor in the costs attributable to IVF. Reducing the multiple birth rate may reduce the overall costs of IVF, and providing insurance coverage of IVF may contribute to lowering multiple birth rates. The use of IVF is likely to expand in response to increases in infertility and scientific advances.

Are we ignoring potential dangers of in vitro fertilization and related treatments?

By conventional assessments, in vitro fertilization (IVF) is one of the safest medical treatments. But producing new life brings immense responsibilities. Recently, there have been disquieting reports of foetal abnormality after these treatments and here we evaluate the potential risks associated with intracytoplasmic sperm injection (ICSI), embryo freezing and pre-implantation genetic diagnosis. In our opinion, before translating new techniques into practice, more research, particularly in animals,is desirable. In addition, better child follow-up and a fresh approach to regulation are also needed.

Children by choice: reproductive technologies and the boundaries of personal autonomy.

Unlike other countries that regulate assisted reproduction, the US has largely left this field to the domain of professional self-regulation and market preferences. The reason lies both in the confused jurisprudence of reproductive liberty and the paralysing effect of the abortion debate on US politics. The debate surrounding cloning, however, has galvanized both activists and the government to revisit the question of regulation, and recent cases in the US Supreme Court suggest that if the political will to regulate this field is found, governmental authority to intervene in areas such as pre-implantation diagnosis, gamete donation and surrogacy might well be upheld, even in the face of constitutional challenges.

Human therapeutic cloning.

Somatic cell nuclear 'reprogramming' in livestock species is now routine in many laboratories. Here, Robert Lanza, Jose Cibelli and Michael West discuss how these techniques may soon be used to clone genetically matched cells and tissues for transplantation into patients suffering from a wide range of disorders that result from tissue loss or dysfunction.

Legal issues in genomic medicine.

Society has entered uncharted territory regarding how, when and where genetic information can be used. This article discusses the major issues raised by increased access to genomic information, which will ultimately be resolved by legislation or the courts.

Stem cell politics, ethics and medical progress.

Tremendous controversy has surrounded efforts to undertake research on totipotent human stem cells. To date public policy in the United States has attempted to skirt the ethical and social questions raised by this research. Annas et al. argue that research using human embryos as a source of totipotent stem cells can secure broad public support if there is an open and public discussion about the ethical justification for undertaking such research and the assurance of adequate federal regulation and oversight.

The International HapMap Project.

The goal of the International HapMap Project is to determine the common patterns of DNA sequence variation in the human genome and to make this information freely available in the public domain. An international consortium is developing a map of these patterns across the genome by determining the genotypes of one million or more sequence variants, their frequencies and the degree of association between them, in DNA samples from populations with ancestry from parts of Africa, Asia and Europe. The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance our ability to choose targets for therapeutic intervention.

Changes in abortions and births and the Texas parental notification law.

BACKGROUND: On January 1, 2000, Texas began enforcement of a law that requires physicians to notify a parent of a minor child seeking an abortion at least 48 hours before the procedure. METHODS: We assessed changes in the rates in Texas of abortions and births (events per 1000 age-specific population) before enforcement of the parental notification law (1998 to 1999) and after enforcement (2000 to 2002). We did this by comparing the rate changes among minors 15 to 17 years of age at the time of conception (i.e., those who were subject to the law) with those of teens 18 years of age at the time of conception (i.e., those who were not subject to the law). RESULTS: After enforcement of the law, abortion rates fell by 11 percent among 15-year-olds (rate ratio, 0.89; 95 percent confidence interval, 0.83 to 0.94), 20 percent among 16-year-olds (rate ratio, 0.80; 95 percent confidence interval, 0.76 to 0.85), and 16 percent among 17-year-olds (rate ratio 0.84; 95 percent confidence interval, 0.80 to 0.87), relative to the rates among 18-year-olds. Among the subgroup of minors 17.50 to 17.74 years of age at the time of conception (who would have been subject to the parental notification law in early pregnancy), birth rates rose by 4 percent relative to those of teens 18.00 to 18.24 years of age (rate ratio, 1.04; 95 percent confidence interval, 1.00 to 1.08). The adjusted odds ratio for having an abortion after 12 weeks' gestation among minors 17.50 to 17.74 years of age as compared with 18-year-olds was 1.34 (95 percent confidence interval, 1.10 to 1.62). CONCLUSIONS: The Texas parental notification law was associated with a decline in abortion rates among minors from 15 to 17 years of age. It was also associated with increased birth rates and rates of abortion during the second trimester among a subgroup of minors who were 17.50 to 17.74 years of age at the time of conception.

Fertility policy in China: future options.

A wide range of social, economic, and demographic criteria are used to evaluate China's present one-child policy and five alternative fertility policies that might guide China's population control efforts until the end of the century when the one-child policy is scheduled to be abandoned. These criteria include the policies' macrodemographic impact on total population size and population aging; their microdemographic effects on the family's ability to support the elderly, its economic capabilities, and the position of women; and their cultural acceptability to the majority Han Chinese population. The results suggest that the least desirable strategy is to retain the present policy; all the two-child alternatives perform better than the current one-child policy in achieving the policy goals considered.