“Should parental refusals of newborn screening be accepted?”

Abstract

For over four decades, knowledge that symptoms of some inherited diseases can be prevented or reduced via early detection and treatment in newborns has underpinned state-funded screening programs in most developed countries. 1 Conditions for which newborn screening is now a recognized preventative public health initiative include phenylketonuria (PKU), congenital hypothyroidism (CHT), and, more recently, cystic fibrosis (CF) and sickle cell disorder (SCD). The use of tandem mass spectrometry to detect conditions such as amino-acidopathies and fatty-acid oxidation defects is also becoming increasingly prevalent. 2 The early identification of children who are at risk for these conditions can have very positive implications. To take the most significant example, a child born with mutations that would otherwise lead to symptoms of PKU will have a vastly different kind of life if the condition is detected in early infancy rather than later. The introduction of a modified diet at this time, although cumbersome, will prevent the onset of severe mental impairment, allowing the child to lead a virtually normal life. 3 Although clinical indications are sometimes more contentious when justifying screening for other conditions, by and large newborn screening is clinically valid and carries only minimal risk. However, it is sometimes declined by parents, presenting healthcare professionals with an ethical, legal, and practical dilemma. Consider the following scenario: Emma and Tom both work as pediatricians in a large city hospital. They have recently had their third child, a daughter named Clare. During a postnatal visit to their home by a midwife, Emma indicates that she and Tom do not want Clare to have any newborn screening. Emma reports there is no family history of any of the diseases being screened for, and she feels strongly that the probability Clare will have any of the conditions is so low that it cannot justify subjecting her to an invasive test. This scenario gives rise to three issues, each addressed below. First, is Emma and Tom’s refusal of newborn screening for Clare justifiable? Second, should the law ever mandate newborn screening over parental objections? Third, howshould such refusals be managed in practice? Using the example of PKU screening, it is argued that although refusals are often difficult to defend, legal intervention is unjustified as a means of compelling parents to allow their infant to be screened. Nevertheless, the state may be justified in exercising some degree of “influence” over parental decisionmaking, via the practices of health professionals involved in newborn screening.This article was written by Dr Ainsley Newson during the time of her employment with the University of Bristol, UK (2006-2012). Self-archived in the Sydney eScholarship Repository with permission of Bristol University, Sept 2014