Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis

Abstract

Decision makers sometimes request information on the cost savings, cost-effectiveness, or cost-benefit of public health programs. In practice, quantifying the health and economic benefits of population-level screening programs such as newborn screening (NBS) is challenging. It requires that one specify the frequencies of health outcomes and events, such as hospitalizations, for a cohort of children with a given condition under two different scenarios—with or without NBS. Such analyses also assume that everything else, including treatments, is the same between groups. Lack of comparable data for representative screened and unscreened cohorts that are exposed to the same treatments following diagnosis can result in either under- or over-statement of differences. Accordingly, the benefits of early detection may be understated or overstated. This paper illustrates these common problems through a review of past economic evaluations of screening for two historically significant conditions, phenylketonuria and cystic fibrosis. In both examples qualitative judgments about the value of prompt identification and early treatment to an affected child were more influential than specific numerical estimates of lives or costs saved.

Newborn screening for sickle cell disease in Europe: recommendations from a Pan‐European Consensus Conference

“…There is evidence from the literature that cost‐effectiveness of NBS for SCD is reached if the birth prevalence is in the order of 1:6000 births (Castilla‐Rodríguez et al , ). However, other factors, such as organization of the screening programme (centralised versus de‐centralised infrastructure), screening method and effectiveness of health care measures (Grosse, ), could also determine cost‐effectiveness. Each screening programme should be periodically evaluated to ascertain its benefits.…”

The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience

“…62 Two subsequent CEAs from the Netherlands both assumed a 1.5 percentage point reduction in mortality to age 5 years, 71,72 similar to the WDOH base model assumption of a 2 percentage point reduction to age 10 years and consistent with published findings. 69,73 An individuallevel analysis of data from the Cystic Fibrosis Foundation CF Patient Registry found a similar survival advantage for infants whose diagnosis was reported during the first month of life, 74 and a state-level analysis found a 1.7 percentage point difference in mortality through age 9 years in states with and without CF NBS implemented prior to 1996. 73 The WDOH assumption of avoided "diagnostic odyssey" costs was conservative (low) relative to 2 published estimates from the United Kingdom 70 and the Netherlands.…”

“…This assessment draws on a recently published review of CEAs of CF NBS published prior to 2015 . The WDOH prepared its CF model prior to the first publication, in 2005, of a CEA of CF NBS that modeled health outcomes.…”

“…This assessment draws on a recently published review of CEAs of CF NBS published prior to 2015. 69 The WDOH prepared its CF model prior to the first publication, in 2005, of a CEA of CF NBS that modeled health outcomes. The 2005 study hypothesized that NBS would delay the onset and progression of CF respiratory symptoms by an average of 6 months, thereby resulting in better lung function and health-related quality of life.…”

Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

“…Unless dietary restriction of phenylalanine contained in foods occurs early in life, there will be profound mental retardation and other severe neurological impairment. In many countries with newborn screening programs, cystic fibrosis, MCAD and PKU would be detected, thus providing the opportunity to intervene and provide life-saving or life enhancing treatment [15,16]. All the children reported in this paper died, in part, due to the lack of newborn screening.…”