Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Abstract

PurposeNewborn bloodspot screening (NBS) programs have expanded significantly in the past years and are expected to expand further with the emergence of genetic technologies. Historically, NBS expansion has often occurred following ad hoc consideration of conditions, instead of a structured and transparent approach. In this review, we explore issues pertinent to NBS policy making, through the lens of the policy cycle: (a) agenda setting, (b) policy advice, (c) policy decision, (d) implementation, and (e) evaluation.MethodsA literature search was conducted to gather information on the elements specific to NBS and its policy making process.ResultsThe review highlighted two approaches to nominate a condition: a structured approach through horizon scanning; and an ad hoc process. For assessment of a condition, there was unanimous support for a robust process based on criteria. While the need to assess harms and benefits was a repeated theme in the articles, there is no agreed-upon threshold for benefit in decision-making. Furthermore, the literature was consistent in its recommendation for an overarching, independent, multidisciplinary group providing recommendations to government. An implementation plan focusing on the different levels on which NBS operates and the information needed on each level is essential for successful implementation. Continuously monitoring, and improving a program is vital, particularly following the implementation of screening for a new condition. An advisory committee could advise on implementation, development, review, modification, and cessation of (parts of) NBS.ConclusionThe results highlight that there are a wave of issues facing NBS programs that policy makers must take into account when developing policy processes. What conditions to screen, and the technologies used in NBS, are both up for debate.

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

“…With the rapidly expanding NBS programs worldwide, it is important to realize that the benefit of NBS is not always easy to prove and that there is no generally accepted guideline on how to monitor outcome and hence fully benefit from NBS programs . It is even more complicated to substantiate the decision to discontinue screening, as was recently done in New Zealand for carnitine uptake disorders .…”

Whole-Genome Sequencing in Newborn Screening—Attitudes and Opinions of Bulgarian Pediatricians and Geneticists

“…Newborn screening (NBS) is a public health service aimed at detecting apparently healthy infants with severe congenital disorders, for which there are available cost-effective identification and effective treatment. NBS is considered to be the longest running and most successful population screening activity worldwide ( 1 ). Many inborn conditions are potential candidates for NBS.…”

Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands

“…Even though the screening technique for SCID has been available for over a decade, implementation into screening programs is accompanied by many challenges due to the complexity of NBS programs. NBS encompasses more than a laboratory test and implementation includes adjustments in education, finances, logistics, politics, and culture [7][8][9]. Even if a high-quality test method is available, public uptake and parental acceptance of the test method are not guaranteed.…”