Parental Permission for Pilot Newborn Screening Research: Guidelines From the NBSTRN

Abstract

There is broad recognition of the need for population-based research to assess the safety and efficacy of newborn screening (NBS) for conditions that are not on current panels. However, prospective population-based research poses significant ethical, regulatory, and logistical challenges. In the context of NBS, there have been a variety of approaches that address parental decision-making in pilot studies of new screening tests or conditions. This article presents an ethical and legal analysis of the role of parental permission by the Bioethics

Consent for newborn screening: parents’ and health-care professionals’ experiences of consent in practice

“…[4][5][6] Tandem mass spectrometry and next-generation sequencing allow the expansion of NBS panels to include conditions for which the natural history of the disorders is less clear, with debate regarding the balance of clinical risks and benefits to the affected infant. [5][6][7][8][9] A wider range of potential benefits for families have been proposed, including guidance for family planning, earlier diagnosis and avoidance of the 'diagnostic odyssey'. [8][9][10] NBS programs differ considerably with respect to parental educational materials 6,[11][12][13] and approaches to parental consent for screening.…”

“…[8][9][10] NBS programs differ considerably with respect to parental educational materials 6,[11][12][13] and approaches to parental consent for screening. [6][7][8]14,15 In Canada, screening is considered routine and proceeds unless parents explicitly object -an opt-out approach. 6,[16][17][18] In contrast, some US states have legislation requiring explicit consent, whereas others institute an opt-out approach.…”

“…23,24 To date, the literature concerning consent and newborn screening has generally focused on attitudes toward consent policy. 7,[25][26][27][28][29] Although this is revealing, occasionally showing conflicting attitudes toward the need for consent, 6,30,31 there is a lack of descriptive research that depicts how the offer of NBS is made to parents, making it difficult to determine the experience of consent in practice. Understanding the experiences of those actually involved in the consent process may provide valuable descriptive information for NBS programs and providers.…”

Challenges of using next generation sequencing in newborn screening

“…While the potential benefits of newborn genome sequencing are obvious, especially the potential to increase the number of identified disorders, the generalization of its practice raises a number of important ethical issues. These issues have raised public debate and have been discussed thoroughly in previous communications (see for example Berg et al, 2011;Biesecker, 2012;Dondorp & de Wert, 2013;Botkin et al, 2014;Burke & Dimmock, 2014;Feero, 2014;Beckmann, 2015). In this short article I argue that there are medical, psychological, ethical and economic reasons why widespread dissemination of this practice in newborn screening is still premature.…”

“…Does adherence to determinism not lead them into a sense of meaninglessness and helplessness regarding their child's fate and actions? Thus, in choosing NGS newborn screening and administering this test early on, we will be breaking the commitment to free choice (Chadwick, 2011;Rosoff, 2012;Botkin et al, 2014;Gannet, 2014).…”