In contrast, within patient/family advocacy groups, there has been widespread discussion about the opportunity to learn about an inherited disease in a child, prior to the birth of a second or third child who might potentially be affected (Wilcken 2012). Another perceived benefit is avoiding the “diagnostic odyssey” associated with complex diseases that present with subtle symptoms in the first months or years. This odyssey can be particularly stressful for families as uncertainty and possibly incorrect diagnosis and inappropriate interventions are experienced. When advances TSA HDAC manufacturer in
screening technologies indicate that particular diseases may be candidates for newborn testing, the associated benefits for affected families provide a significant argument
for their consideration. Prime examples are lysosomal storage diseases and Fragile X syndrome. Both of these disease groups frequently present with subtle or minimal symptoms for several years, and when a second or third child is born before the first is diagnosed, families with two or more affected children are certainly not exceptions in our society. Within advocacy groups, the arguments are well rehearsed, including the principle that ‘benefit to the family is also a benefit to the child’. The policy statement of the Human Genetics Society of Australasia (2011) and the American College of Medical Geneticists (Burchbinder and Timmermans
2011) also makes explicit reference to this principle. However, these societies are Sorafenib in a minority of professional groups that clearly articulate this point. As these examples demonstrate the WHO criteria can be critiqued using a grounded approach, hence providing an argument for newborn screening of particular rare disorders. As we have argued, this has already occurred in practice within the New Zealand context. SSR128129E However, a notable feature of some critics’ arguments is the potential for harm associated with the early identification of a disease, serving as a reason not to add them to a screening programme. This has led to a ‘do nothing’ approach where such potential harms are perceived, without problematizing the consequences of not acting (Pollitt 2006). As Pollitt (2006) notes, despite the possible harm of expanding too soon without detailed evidence and data, there can also be substantial costs in harms from a ‘do nothing’ approach. A challenge to that approach may come from the ethical framework proposed by Bernheim et al. (2007). This three-part framework proposes an analysis of any ethical issues, followed by an evaluation of the ethical dimensions of alternative actions, and after weighing the two against one another, the provision of justification for any action to be taken.
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