Genome-based newborn screening: a conceptual analysis of the best interests of the child standard.

Abstract

Advances in genome-based sequencing technologies now allows for numerous genes to be analyzed in a single test, compared with previous gene-by-gene approaches [1]. While genome-based sequencing is gradually integrated into clinical care, there is also a strong push to use these technologies in public health settings [2–4], such as newborn screening programs [2,5]. In line with this interest, the US NIH recently invested US$25 million to study the medical and ethical implications of genomebased sequencing of newborns, although the plethora of issues this might pose are well recognized [6–7]. One issue relates to the paradigm shift in public health programs this use of genomic sequencing would create [6–8]. Since their introduction in the 1960s, the focus of newborn screening programs has been the identification of asymptomatic newborns with rare metabolic disorders, to allow timely interventions that significantly decrease morbidity and mortality. As the best interests of the child (BIC) was the core principle [8], selection of conditions was limited to those where newborns left untreated would suffer from severe illnesses, and early intervention carried definitive medical benefit [9]. In certain regions, the progressive use of new screening technologies has historically led to relaxing of the traditional criteria to screen only for early-onset, treatable conditions [10]. As a result, screening programs have occasionally shifted away from using the BIC as the primary consideration to justify inclusion of conditions in the screening panel. In addition, the nature of the information provided through genome-based newborn screening poses additional hurdles for determining what is within the scope of the BIC at individual, familial and populational levels and the appropriateness of the BIC argument in the newborn screening setting. This article therefore discusses the legal concept of BIC at a theoretical level.