PARENTS OF SERIOUSLY ILL CHILDREN FACE difficult decisions when standard therapies are limited or ineffective. In their search for information, they may turn to websites created by other parents facing similar experiences. We conducted a qualitative content analysis of 21 websites created by families with children affected by cancer or genetic disease, two serious conditions … Read more

Technology will make it possible to screen for fragile X syndrome and other conditions that do not meet current guidelines for routine newborn screening. This possibility evokes at least 8 broad ethical, legal, and social concerns: (1) early identification of fragile X syndrome, an “untreatable” condition, could lead to heightened anxiety about parenting, oversensitivity to … Read more

For over three decades, bioethics scholarship and research ethics guidelines have identified concerns about the boundaries between research and standard clinical care. Ethicists have argued that informed consent to participate in research should include clarification of the differences between these two activities. In 1982, Appelbaum and colleagues reported on findings from interviews with patients with … Read more

Klinefelter, Turner, and fragile X syndromes are conditions defined by a genetic or chromosomal variant. The timing of diagnosis, tests employed, specialists involved, symptoms evident, and prognoses available vary considerably within and across these syndromes, but all three share in common a diagnosis verified through a molecular or cytogenetic test. The genetic or chromosomal variant … Read more

The conduct of clinical research often involves two distinguishable sets of relationships: the researcher-subject relationship, and the clinician-patient relationship. Some scholars argue that being a patient in a clinical care setting and a subject in a research study are so different that anything that would promote in subjects the view that they are in clinician-patient … Read more

The conduct of clinical research often involves two distinguishable sets of relationships: the researcher‐subject relationship, and the clinician‐patient relationship. Some scholars argue that being a patient in a clinical care setting and a subject in a research study are so different that anything that would promote in subjects the view that they are in clinician‐patient … Read more

Many subjects in early phase clinical trials expect to benefit in some way from the research intervention. It is understandable that people hope for improvement in their condition, no matter what the evidence. Yet unreasonable expectation of medical benefit may reflect problems with informed consent: Investigators may not disclose clearly that direct medical benefit from … Read more

The likelihood of benefit is fundamental to decision making about newborn screening. But benefit is construed in different ways by different stakeholders. This article begins with a review of benefit as considered historically by various expert panels and organizations. We then show how 78 conditions fared when experts recently rated them on benefit using a … Read more

Appelbaum and colleagues first described the “therapeutic misconception” in 1982. There has been much discussion since then about whether and why some patients who enter clinical trials confuse research with treatment and overestimate the nature or likelihood of benefit to them from research in which they enroll, and about whether investigators share in or contribute … Read more

We report on a study of potential sources of therapeutic misconception in early phase gene transfer research, examining how investigators and their consent forms represent the prospect for direct benefit. Our analysis demonstrates that even though half of PIs said they expected direct medical benefit for their subjects, they did not necessarily convey this to … Read more