ABSTRACT
Multiple studies show that periodic reanalysis of genomic test results held by clinical laboratories delivers significant increases in overall diagnostic yield. However, while there is a widespread consensus that implementing routine reanalysis procedures is highly desirable, there is an equally widespread understanding that routine reanalysis of individual patient results is not presently feasible to perform for all patients. Instead, researchers, geneticists and ethicists are beginning to turn their attention to one part of reanalysis-reinterpretation of previously classified variants-as a means of achieving similar ends to large-scale individual reanalysis but in a more sustainable manner. This has led some to ask whether the responsible implementation of genomics in healthcare requires that diagnostic laboratories routinely reinterpret their genomic variant classifications and reissue patient reports in the case of materially relevant changes. In this paper, we set out the nature and scope of any such obligation, and analyse some of the main ethical considerations pertaining to a putative duty to reinterpret. We discern and assess three potential outcomes of reinterpretation-upgrades, downgrades and regrades-in light of ongoing duties of care, systemic error risks and diagnostic equity. We argue against the existence of any general duty to reinterpret genomic variant classifications, yet we contend that a suitably restricted duty to reinterpret ought to be recognised, and that the responsible implementation of genomics into healthcare must take this into account.
Subject(s)
Genetic Testing , Genomics , HumansABSTRACT
The use of genomic testing in pregnancy is increasing, giving rise to questions over how the information that is generated should be offered and returned in clinical practice. While these tests provide important information for prenatal decision-making, they can also generate information of uncertain significance. This paper critically examines three models for approaching the disclosure of variants of uncertain significance (VUS), which can arise from forms of genomic testing such as prenatal chromosomal microarray analysis (CMA). Contrary to prevailing arguments, we argue that respect for reproductive autonomy does not justify adopting a model on which an offer to disclose VUS is a routine part of genetic counselling. Instead, we contend that a commitment both to solidarity between healthcare providers and pregnant women and to the acceptance of a novel principle of caution under normative uncertainty means that we should instead adopt a model of VUS disclosure that imposes a strong presumption against offering to disclose VUS. The upshot of this is that it should be standard practice to only offer to disclose VUS when this is requested by the woman undergoing CMA. We defend our position against claims that arise from an alleged right to such information and that a presumption against an offer will lead to inequity.
Subject(s)
Genetic Counseling , Genetic Testing , Female , Health Personnel , Humans , Pregnancy , Prenatal Diagnosis , UncertaintyABSTRACT
Innovation is a key driver of care provision in assisted reproductive technologies (ART). ART providers offer a range of add-on interventions, aiming to augment standard in vitro fertilization protocols and improve the chances of a live birth. Particularly in the context of commercial provision, an ever-increasing array of add-ons are marketed to ART patients, even when evidence to support them is equivocal. A defining feature of ART is hope-hope that a cycle will lead to a baby or that another test or intervention will make a difference. Yet such hope also leaves ART patients vulnerable in a variety of ways. This article argues that previous attempts to safeguard ART patients have neglected how the use of add-ons in commercial ART can exploit patients' hopes. Commercial providers of ART should provide add-ons only free of charge, under a suitable research protocol.
Subject(s)
Fertilization in Vitro , Reproductive Techniques, Assisted , Pregnancy , Female , Humans , Live BirthABSTRACT
In addition to having blast mitigation properties, aqueous foam concentrate AFC-380 blast suppression foam is designed to capture aerosolized chemical, biological, and radioactive particles during render-safe procedures of explosive devices. Exposure to aqueous environments and surfactants may negatively affect forensic evidence found at the scene, but the effects of AFC-380 foam and aqueous gel on the preservation and subsequent analysis of forensic evidence have not previously been investigated. Sebaceous finger and palm prints and DNA samples on paper, cardboard, tape, and various metal and plastic items, along with hairs, carpet and yarn fibers, and inks and documents, were exposed to AFC-380 foam. Similar mock evidence was also exposed to a superabsorbent gel of the type found in aqueous gel blocks used for shrapnel containment. Exposure to foam or aqueous gel was associated with a dilution effect for recovered DNA samples, but quality of the samples was not substantially affected. In contrast, exposure to AFC-380 foam or gel was detrimental to development of latent finger and palm prints on any substrate. Neither the hair nor the fiber samples were affected by exposure to either the foam or gel. Indented writing on the document samples was detrimentally affected by foam or gel exposure, but not inks and toners. The results from this study indicate that most types of forensic evidence recovered after being exposed to aqueous gel or blast suppression foam can be reliably analyzed, but latent finger and palm prints may be adversely affected.