Ethical implications of expanded newborn screening

16 December 2008

Screening newborns for certain inherited conditions is undertaken in most countries to provide a means of early identification and treatment of conditions such as phenylketonuria (PKU) and sickle cell anaemia. With the emergence of new high-throughput technologies such as tandem mass spectrometry (MS/MS), the number of conditions that can potentially be screened for has increased and is likely to expand further as genomic technologies develop. MS/MS allows for the detection and quantitation of over 20 different metabolites simultaneously, following simple sample preparation, thereby allowing screening for a number of inherited metabolic disorders to be carried out. In the US, the American College of Medical Genetics (ACMG) has recommended screening to be undertaken for a “core” panel of 29 conditions (see previous news) and 25 secondary conditions. In the UK, newborn screening has not expanded to such and extent and MS/MS is only offered for the detection of phenylketonuria (PKU) and Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). A health and technology assessment carried out in 2004 concluded that although it could be used for screening a number of other inherited metabolic disorders, lack of evidence about the incidence of these conditions as well as the impact of screening on management of the conditions precluded their inclusion in the newborn screening programme (see previous news).

Screening for a wide panel of disorders, especially when many of them are extremely rare, not fully understood and as yet untreatable raises a number of ethical, legal and social issues (see previous news). This month the President’s Council of Bioethics in the US has released a white paper on expanded newborn screening with the aim to “foster public awareness of the practice, the ethical principles that have guided it until now, and the ethical problems posed by its current and future expansion”. In their report: The Changing Moral Focus of Newborn Screening: An Ethical Analysis by the President's Council on Bioethics, the council examine the ethical implications of offering screening for a wide range of conditions, especially when in many cases there are no treatments available for the detected conditions. Their report concludes that screening for untreatable conditions may do more harm than good and this may be “accentuated once new DNA technologies make it possible to expand screening to target additional diseases and to detect disease susceptibility as well”. As a result they recommend that screening should only be offered for conditions that meet the traditional Wilson-Jungner screening criteria. The report acknowledges that expanded newborn screening can contribute to biomedical knowledge of rare diseases; however, they recommend that where screening is possible for untreatable conditions, this should be offered through pilot studies, so that evidence about the benefits of screening can be gathered. In addition, informed consent should be gained from parents prior to this undertaking.

Along with discussing the ethical issues raised by expanded newborn screening policy in the US, this report also raises conceptual issues about the purpose of screening and screening programmes; an issue which has to be dealt with as our options on what we can screen for expands. The expansion of newborn screening programmes appears to have been mainly been dictated by technological advances. However, an important consideration is whether screening for a particular condition can aid in the care and management of the patient. A recent editorial accompanying a report on the impact of expanded newborn screening in the US, called for ongoing surveillance and evaluation of the diagnosis of affected newborns and their longer-term health outcomes to develop better management protocols (see previous news). The report also raises questions about what conditions should be screened for mandatorily by national health systems in an effort to improve public health and how they should be offered. This also has an effect on ensuring informed consent; as screening technologies develop and expand, especially with the inclusion of much rarer conditions, it becomes much harder to ensure that people are aware about the test, the consequences of the results (i.e. false positives and negatives) and are appropriately advised about them.

 

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