14 research outputs found
Cascade testing in Familial Hypercholesterolaemia: how should family members be contacted?
Cascade testing or screening provides an important mechanism for identifying people at risk of a genetic condition. For some autosomal dominant conditions, such as Familial Hpercholesterolaemia (FH), identifying relatives allows for significant health-affecting interventions to be administered, which can extend a personâs life expectancy significantly. However, cascade screening is not without ethical implications. In this paper, we examine one ethically contentious aspect of cascade screening programmes, namely the alternative methods by which relatives of a proband can be contacted. Should the proband be responsible for contacting his or her family members, or should the screening programme contact family members directly? We argue that direct contact is an ethically justifiable method of contact tracing in cascade screening for FH. Not only has this method of contact already been utilised without adverse effects, an examination of the ethical arguments against it shows these are unsubstantiated. We describe several criteria which, if met, will allow an appropriate balance to be struck between maximising the efficiency of family tracing and respecting the interests of probands and their relatives. Keywords Cascade genetic screening; cascade testing; confidentiality; autonomy; genetics; ethics; guidelines; familial hypercholesterolaemi
Affecting qualitative health psychology
The âaffective turnâ is a contemporary movement within the humanities, social science
and psychology to investigate affect, emotion and feeling as hybrid phenomena jointly
constituted from both biological and social influences. Health and illness are themselves
jointly constituted in this way, and many of the topics, concerns and methods of health
psychology are strongly permeated by affective phenomena. Qualitative research in
health psychology might therefore benefit by engaging with this work. This paper
describes some features of the affective turn, and suggests theories, terminology and
methods that might be useful
The Limits of Disclosure: What Research Subjects Want to Know about Investigator Financial Interests
Developing Cellular Therapies for Retinal Degenerative Diseases
Biomedical advances in vision research have been greatly facilitated by the clinical accessibility of the visual system, its ease of experimental manipulation, and its ability to be functionally monitored in real time with noninvasive imaging techniques at the level of single cells and with quantitative end-point measures. A recent example is the development of stem cellâbased therapies for degenerative eye diseases including AMD. Two phase I clinical trials using embryonic stem cellâderived RPE are already underway and several others using both pluripotent and multipotent adult stem cells are in earlier stages of development. These clinical trials will use a variety of cell types, including embryonic or induced pluripotent stem cellâderived RPE, bone marrowâ or umbilical cordâderived mesenchymal stem cells, fetal neural or retinal progenitor cells, and adult RPE stem cellsâderived RPE. Although quite distinct, these approaches, share common principles, concerns and issues across the clinical development pipeline. These considerations were a central part of the discussions at a recent National Eye Institute meeting on the development of cellular therapies for retinal degenerative disease. At this meeting, emphasis was placed on the general value of identifying and sharing information in the so-called âprecompetitive space.â The utility of this behavior was described in terms of how it could allow us to remove road blocks in the clinical development pipeline, and more efficiently and economically move stem cellâbased therapies for retinal degenerative diseases toward the clinic. Many of the ocular stem cell approaches we discuss are also being used more broadly, for nonocular conditions and therefore the model we develop here, using the precompetitive space, should benefit the entire scientific community