It is unclear whether the regulatory distinction between non-identifiable and identifiable information—information used to determine informed consent practices for the use of clinically derived samples for genetic research—is meaningful to patients. The objective of this study was to examine patients' attitudes and preferences regarding use of anonymous and identifiable clinical samples for genetic research. Telephone interviews were conducted with 1,193 patients recruited from general medicine, thoracic surgery, or medical oncology clinics at five United States academic medical centers. Wanting to know (...) about research being done was important to 72% of patients when samples would be anonymous and to 81% of patients when samples would be identifiable. Only 17% wanted to know about the identifiable scenario but not the anonymous scenario. Curiosity-based reasons were the most common among patients who wanted to know about anonymous samples. Of patients wanting to know about either scenario, approximately 57% would require researchers to seek permission, whereas 43% would be satisfied with notification only. Patients were more likely to support permission in the anonymous scenario if they had more education, were Black, less religious, in better health, more private, and less trusting of researchers. The sample, although not representative of the general population, does represent patients at academic medical centers whose clinical samples may be used for genetic research. Few patients expressed preferences consistent with the regulatory distinction between non-identifiable and identifiable information. Data from this study should cause policy-makers to question whether this distinction is useful in relation to research with previously collected clinically derived samples. (shrink)

ABSTRACT In this article, we first document the virtually complete absence of infectious disease examples and concerns at the time bioethics emerged as a field. We then argue that this oversight was not benign by considering two central issues in the field, informed consent and distributive justice, and showing how they might have been framed differently had infectiousness been at the forefront of concern. The solution to this omission might be to apply standard approaches in liberal bioethics, such as autonomy (...) and the harm principle, to infectious examples. We argue that this is insufficient, however. Taking infectious disease into account requires understanding the patient as victim and as vector. Infectiousness reminds us that as autonomous agents we are both embodied and vulnerable in our relationships with others. We conclude by applying this reunderstanding of agency to the examples of informed consent and distributive justice in health care. (shrink)

As sharing and secondary research use of biospecimens increases, IRBs and researchers face the challenge of protecting and respecting donors without comprehensive regulations addressing the human subject protection issues posed by biobanking. Variation in IRB biobanking policies about these issues has not been well documented.

As the range of conditions for which we can test prenatally expands, society and the medical profession need to develop guidelines about which tests ought to be offered and which ought not to be. Notions of fetal privacy and confidentiality can help to define limits to what parents may reasonably learn about their future child.

This paper examines the characteristics of infectious diseases that raise special medical and social ethical issues, and explores ways of integrating both current bioethical and classical public health ethics concerns. Many of the ethical issues raised by infectious diseases are related to these diseases' powerful ability to engender fear in individuals and panic in populations. We address the association of some infectious diseases with high morbidity and mortality rates, the sense that infectious diseases are caused by invasion or attack on (...) humans by foreign micro-organisms, the acute onset and rapid course of many infectious diseases, and, in particular, the communicability of infectious diseases. The individual fear and community panic associated with infectious diseases often leads to rapid, emotionally driven decision making about public health policies needed to protect the community that may be in conflict with current bioethical principles regarding the care of individual patients. The discussion includes recent examples where dialogue between public health practitioners and medical-ethicists has helped resolve ethical issues that require us to consider the infected patient as both a victim with individual needs and rights and as a potential vector of disease that is of concern to the community. (shrink)

In the 1960s, newborn screening programs tested for a single very rare but serious disorder. In recent years, thanks to the development of new screening technology, they have expanded into panels of tests; a federally sponsored expert group has recommended that states test for twenty-nine core disorders and twenty-five secondary disorders. By the standards used to decide whether to introduce new preventive health services into clinical use, the decision-making in newborn screening policy has been lax.

This paper examines the characteristics of infectious diseases that raise special medical and social ethical issues, and explores ways of integrating both current bioethical and classical public health ethics concerns. Many of the ethical issues raised by infectious diseases are related to these diseases’ powerful ability to engender fear in individuals and panic in populations. We address the association of some infectious diseases with high morbidity and mortality rates, the sense that infectious diseases are caused by invasion or attack on (...) humans by foreign micro‐organisms, the acute onset and rapid course of many infectious diseases, and, in particular, the communicability of infectious diseases. The individual fear and community panic associated with infectious diseases often leads to rapid, emotionally driven decision making about public health policies needed to protect the community that may be in conflict with current bioethical principles regarding the care of individual patients. The discussion includes recent examples where dialogue between public health practitioners and medical‐ethicists has helped resolve ethical issues that require us to consider the infected patient as both a victim with individual needs and rights and as a potential vector of disease that is of concern to the community. (shrink)

Preimplantation genetic diagnosis is a new method of prenatal diagnosis that is developing from a union of in vitro fertilization technology and molecular biology. Briefly stated, PGD involves the creation of several embryos in vitro from the eggs and sperm of an interested couple. The embryos are permitted to develop to a 6-to-10-cell stage, at which point one of the embryonic cells is removed from each embryo and the cellular DNA is analyzed for chromosomal abnormalities or genetic mutations. An embryo (...) or several embryos found to be free of genetic abnormalities are subsequently transferred to the woman's uterus for gestation. Embryos found to carry a genetic abnormality are discarded or frozen. Extra normal embryos may be frozen for future transfer or donation to another couple. (shrink)

Preimplantation genetic diagnosis is a new method of prenatal diagnosis that is developing from a union of in vitro fertilization technology and molecular biology. Briefly stated, PGD involves the creation of several embryos in vitro from the eggs and sperm of an interested couple. The embryos are permitted to develop to a 6-to-10-cell stage, at which point one of the embryonic cells is removed from each embryo and the cellular DNA is analyzed for chromosomal abnormalities or genetic mutations. An embryo (...) or several embryos found to be free of genetic abnormalities are subsequently transferred to the woman's uterus for gestation. Embryos found to carry a genetic abnormality are discarded or frozen. Extra normal embryos may be frozen for future transfer or donation to another couple. (shrink)

The Common Rule governs research on human subjects and attempts to balance respect for individual decision-making with efficiency when research risks are low. The regulations allow research to be conducted without consent if the data or biospecimens collected in a study are deidentified, and consent can be waived for identifiable data and biospecimens if the risks of the research are minimal and consent is deemed impracticable. These approaches have been widely used for research using clinical databases and residual clinical and (...) research biospecimens, and they have proven remarkably successful over the past twenty-five years, if success is measured by a lack of adverse events.But the landscape is changing. (shrink)

“Wrongful birth” is a controversial malpractice action, which has arisen in the past two decades, secondary to an expanding knowledge of human genetics and the constitutionally protected access to abortion. Under the wrongful birth claim, parents of a child with a congenital illness or abnormality may bring suit against a physician who allegedly failed to provide appropriate prenatal counseling or information. Typically, the parents claim that they were inadequately warned of a potential problem in their child, and that this paucity (...) of timely information prevented them from avoiding the pregnancy or from obtaining an abortion. While these cases have arisen in a variety of clinical circumstances, a characteristic example is the obstetrician who fails to offer amniocentesis to a woman of advanced maternal age who subsequently gives birth to a child with Down syndrome. Since the parents were prevented from learning of the abnormality and therefore exercising the option to terminate the pregnancy, they may claim damages for themselves for the wrongful birth of the infant. (shrink)

“Wrongful birth” is a controversial malpractice action, which has arisen in the past two decades, secondary to an expanding knowledge of human genetics and the constitutionally protected access to abortion. Under the wrongful birth claim, parents of a child with a congenital illness or abnormality may bring suit against a physician who allegedly failed to provide appropriate prenatal counseling or information. Typically, the parents claim that they were inadequately warned of a potential problem in their child, and that this paucity (...) of timely information prevented them from avoiding the pregnancy or from obtaining an abortion. While these cases have arisen in a variety of clinical circumstances, a characteristic example is the obstetrician who fails to offer amniocentesis to a woman of advanced maternal age who subsequently gives birth to a child with Down syndrome. Since the parents were prevented from learning of the abnormality and therefore exercising the option to terminate the pregnancy, they may claim damages for themselves for the wrongful birth of the infant. (shrink)

The overlap and differences between the parallel regulatory systems for research create ample room for confusion and missteps, as discussed by Barbara Bierer and Mark Barnes in their report in this supplement. In practice, beyond the inherent differences in the two systems of regulations themselves, there are many issues that further complicate the application of these regulations. These include the variation in size of the institutions receiving PHS funding, the increased prevalence of multisite research, the allocation of research conduct and (...) oversight to external organizations, and the variability in assignment of human subject protection roles between the IRB and the institution. (shrink)

Imagine a genetic counselor working with a young couple pregnant with their first child. The explosion of genetic knowledge and technology in recent years is complicating this professional relationship as a host of new choices brings a few clients with atypical needs. This couple is deaf. They seek not to avoid a child with their disability but rather to assure that the child too will be deaf—a child to share their culture and perspectives on the world. If prenatal diagnosis indicates (...) that the prospective child would be hearing, they intend to terminate the pregnancy and try again. So, how should the counselor respond to this request for services? Does a traditional deference to parental autonomy in reproductive matters require that we respect such decisions by informed couples? More broadly, what are the concepts by which society will guide policy in this new and sensitive domain? (shrink)