Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening

Abstract

Newborn metabolic screening is the most widespread application of screening technology and provides the most comprehensive application of genetics in health services, where the Guthrie blood spot cards allow screening for metabolic diseases in close to 100 % of all newborn babies. Despite over 40 years of use and significant benefits to well in excess of 100,000 children worldwide, there is remarkably little consensus in what conditions should be screened for and response to new advances in medicine relating to programme expansion. In this article, the international criteria for newborn metabolic screening are considered, and we propose that these criteria are poorly developed in relation to the baby, its family and society as a whole. Additionally, the ethical issues that should inform the application of screening criteria are often not developed to a level where a consensus might easily be achieved. We also consider that when family interests are factored in to the decision-making process, they have a significant influence in determining the list of diseases in the panel, with countries or states incorporating family and societal values being the most responsive. Based on our analysis, we propose that decision criteria for metabolic screening in the newborn period should be adapted to specifically include parent and family interests, community values, patients’ rights, duties of government and healthcare providers, and ethical arguments for action in the face of uncertainty.

Genetics Professionals’ Opinions of Whole‐Genome Sequencing in the Newborn Period

“…However, if WGS was introduced in this setting, the volume of potential results may make it impossible to continue to evaluate conditions on an individual basis, which would make continued utilization of these criteria difficult. Some have called for a revision of traditional screening guidelines to accommodate for changes in screening practices, such as for metabolic diseases in NBS (Forman et al 2013). Others have proposed new guidelines for screening in the genomic era (Andermann et al 2008).…”

Physician-patient relationship in rare diseases: an ethical approach

“…In Wilson and Jungner's opinion, neonatal screening in general should be limited to cases for which treatment exists, starting from the need to promote the best interests of the child. However, in the case of rare diseases, this condition should not be made for a number of reasons: a long interval of about 2 years, from the first clinical suspicion and until diagnosis, the good results of the early (even symptomatic) therapeutic intervention and parents' opinion that early diagnosis would have made them better parents, which would have promoted the best interests of the child 16 .…”

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

“…The criteria used for these additions have been based on the fact that early detection and prevention, coupled with therapeutic advances, increase survival of children who would otherwise not reach adulthood (Forman et al 2013;Leão and Aguiar 2008). For many inborn errors of metabolism, early diagnosis allows supportive treatments and genetic counselling for parents and other relatives.…”