Cost-Effectiveness of Nusinersen and Universal Newborn Screening for Spinal Muscular Atrophy.

OBJECTIVE: To evaluate the cost-effectiveness of nusinersen with and without universal newborn screening for infantile-onset spinal muscular atrophy (SMA). STUDY DESIGN: A Markov model using data from clinical trials with US epidemiologic and cost data was developed. The primary interventions studied were nusinersen treatment in a screening setting, nusinersen treatment in a nonscreening setting, and standard care. Analysis was conducted from a societal perspective. RESULTS: Compared with no screening and no treatment, the incremental cost-effectiveness ratio (ICER) for nusinersen with screening was $330 558 per event-free life year (LY) saved, whereas the ICER for nusinersen treatment without screening was $508 481 per event-free LY saved. For nusinersen with screening to be cost-effective at a willingness-to-pay (WTP) threshold of $50 000 per event-free LY saved, the price would need to be $23 361 per dose, less than one-fifth its current price of $125 000. Preliminary data from the NURTURE trial indicated an 85.7% improvement in expected LYs saved compared with our base results. In probabilistic sensitivity analysis, nusinersen and screening was a preferred strategy 93% of the time at a $500 000 WTP threshold. CONCLUSION: Universal newborn screening for SMA provides improved economic value for payers and patients when nusinersen is available.

Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.

OBJECTIVES: To evaluate the clinical impact of a congenital adrenal hyperplasia (CAH) newborn screening program and incremental costs relative to benefits in screened vs unscreened infants. We hypothesized that screening would lead to clinical benefits and would be cost effective. STUDY DESIGN: This was an ambispective cohort study at British Columbia Children's Hospital, including infants diagnosed with CAH from 1988-2008 and 2010-2018. Data were collected retrospectively (unscreened cohort) and prospectively (screened cohort). Outcome measures included hospitalization, medical transport, and resuscitation requirements. The economic analysis was performed using a public payer perspective. RESULTS: Forty unscreened and 17 screened infants were diagnosed with CAH (47% vs 53% male). Median days to positive screen was 6 and age at diagnosis was 5 days (range, 0-30 days) and 6 days (range, 0-13 days) in unscreened and screened populations, respectively. In unscreened newborns, 55% required transport to a tertiary care hospital, 85% required hospitalization, and 35% required a fluid bolus compared with 29%, 29%, and 12% in screened infants, respectively. The cost of care was $33 770 per case in unscreened vs $17 726 in screened newborns. In the screened cohort, the incremental cost-effectiveness ratio was $290 in the best case analysis and $4786 in the base case analysis, per hospital day avoided. CONCLUSIONS: Compared with unscreened newborns, those screened for CAH were less likely to require medical transport and had shorter hospital stays. Screening led to a decrease in hospitalization costs. Although screening did not result in cost savings, it was assessed to be cost effective considering the clinical benefits and incremental cost-effectiveness ratio.

Cost-effectiveness Analysis of Screening Extremely Low Birth Weight Children for Hepatoblastoma Using Serum Alpha-fetoprotein.

OBJECTIVES: To evaluate the cost-effectiveness of screening children born at extremely low birth weight (ELBW) for hepatoblastoma using serial serum alpha-fetoprotein measurements. STUDY DESIGN: We created a decision tree to evaluate the cost effectiveness of screening children born at ELBW between 3 and 48 months of age compared with current standard of care (no screening). Our model used discounted lifetime costs and monetary benefits in 2018 US dollars, based on estimates in the published literature. The effects of uncertainty in model parameters were also assessed using univariate sensitivity analyses, in which we changed the values for one parameter at a time to assess the effect on the estimated incremental cost-effectiveness ratio. RESULTS: For the estimated 55 699 children born at ELBW in the US each year, this screening is associated with 77.7 additional quality-adjusted life-years (QALYs) at a cost of $8.7 million. This results in an incremental cost-effectiveness ratio of about $112 000/QALY, which is considered cost effective from a US societal perspective. For children diagnosed with hepatoblastoma, our model finds that the screening regimen is associated with a 10.1% increase in survival, a 4.18% increase in expected QALYs, and a $245 184 decrease in expected cost. CONCLUSIONS: Screening ELBW children for hepatoblastoma between 3 and 48 months of age dominates the alternative and is cost effective from a societal perspective.

Accuracy of Bilistick (a Point-of-Care Device) to Detect Neonatal Hyperbilirubinemia.

INTRODUCTION: Early diagnosis and appropriate management of neonatal jaundice is crucial in avoiding severe hyperbilirubinemia and brain injury. A low-cost, minimally invasive, point-of-care (PoC) tool for total bilirubin (TB) estimation which can be useful across all ranges of bilirubin values and all settings is the need of the hour. OBJECTIVE: To assess the accuracy of Bilistick system, a PoC device, for measurement of TB in comparison with estimation by spectrophotometry. DESIGN/METHODS: In this cross-sectional clinical study, in infants who required TB estimation, blood samples in 25-µl sample transfer pipettes were collected at the same time from venous blood obtained for laboratory bilirubin estimation. The accuracy of Bilistick in estimating TB within ±2 mg/dl of bilirubin estimation by spectrophotometry was the primary outcome. RESULTS: Among the enrolled infants, 198 infants were eligible for study analysis with the mean gestation of 36 ± 2.3 weeks and the mean birth weight of 2368 ± 623 g. The median age at enrollment was 68.5 h (interquartile range: 48-92). Bilistick was accurate only in 54.5% infants in measuring TB within ±2 mg/dl difference of TB measured by spectrophotometry. There was a moderate degree of correlation between the two methods (r = 0.457; 95% CI: 0.339-0.561, p value < 0.001). Bland-Altman analysis showed a mean difference of 0.5 mg/dl (SD ± 4.4) with limits of agreement between -8.2 and +9.1 mg/dl. CONCLUSION: Bilistick as a PoC device is not accurate to estimate TB within the clinically acceptable difference (±2 mg/dl) of TB estimation by spectrophotometry and needs further improvement to make it more accurate.

Clinical and economic aspects of newborn screening for severe combined immunodeficiency: DEPISTREC study results.

PURPOSE: Severe combined immunodeficiency (SCID) refers to a group of genetic disorders characterized by greatly compromised cellular and humoral immunity. Children with SCID are asymptomatic at birth, but they die from infections within the first months of life if not treated. Quantification of T-cell receptor excision circles is an extremely sensitive screening method for detecting newborns who may have SCID.The goal of the DEPISTREC study was to evaluate the feasibility of nationwide newborn screening for severe T-cell lymphopenia in France as well as its economic and clinical utility. METHODS: The test universally used for neonatal screening for SCID was the quantification of TRECs on Guthrie cards. We compared a group of 190,517 babies from 48 maternities across the country who underwent newborn SCID screening with a control group of 1.4 million babies out of whom 28 were diagnosed with SCID without such screening during the course of the study. RESULTS: Within the screening group, 62 babies were found to be lymphopenic, including three with SCID. The cost of screening ranged from 4.7€ to €8.15 per newborn. The average 18-month cost was €257,574 vs €204,697 in the control group. CONCLUSIONS: In this large-scale study, we demonstrate that routine SCID screening is feasible and effective. This screening offers the additional benefit of aiding in the diagnosis of non-SCID lymphopenia. Economic evaluation allowed us to calculate the cost per test. Newborn screening may also prevent death by SCID before any curative treatment can be administered. The difference in cost between screened and control children could not be ascertained because of the very low numbers and death of one of the children tested.

Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test.

Sickle cell disease (SCD) is a common, life-threatening genetic disorder that is best managed when diagnosed early by newborn screening. However, SCD is most prevalent in low-resource regions of the world where newborn screening is rare and diagnosis at the point-of-care is challenging. In many such regions, the majority of affected children die, undiagnosed, before the age of 5 years. A rapid and affordable point-of-care test for SCD is needed. The diagnostic accuracy of HemoTypeSC, a point-of-care immunoassay, for SCD was evaluated in individuals who had SCD, hemoglobin C disease, the related carrier (trait) states, or a normal hemoglobin phenotype. Children and adults participated in low-, medium- and high-resource environments (Ghana [n = 383], Martinique [n = 46], and USA [n = 158]). Paired blood specimens were obtained for HemoTypeSC and a reference diagnostic assay. HemoTypeSC testing was performed at the site of blood collection, and the reference test was performed in a laboratory at each site. In 587 participants, across all study sites, HemoTypeSC had an overall sensitivity of 99.5% and specificity of 99.9% across all hemoglobin phenotypes. The test had 100% sensitivity and specificity for sickle cell anemia. Sensitivity and specificity for detection of normal and trait states were >99%. HemoTypeSC is an inexpensive (<$2 per test), accurate, and rapid point-of-care test that can be used in resource-limited regions with a high prevalence of SCD to provide timely diagnosis and support newborn screening programs.

Towards the automated economic assessment of newborn screening for rare diseases.

OBJECTIVE: Economic assessments of newborn screening programs for rare diseases involve the use of models and require huge efforts to synthesize information from different sources. Sharing and automatically or semi-automatically reusing this information for new assessments would be desirable, but it is not possible nowadays due to the lack of suitable tools. MATERIAL AND METHODS: We designed and implemented the Rare Diseases Ontology for Simulation (RaDiOS) after performing two reviews, and critically appraising the existing data repositories on rare diseases. The first review involved previous published economic assessments, and served to identify the main parameters required to model newborn screening. The second review aimed at locating existing data repositories potentially available to inform these parameters. RESULTS: We found key model parameters on epidemiology, screening methods, diagnose methods, pathogenesis, treatment and follow-up tests. We also identified seven data repositories directly related to rare diseases. None of such repositories was well-suited for the automated generation of simulation models. We incorporated the identified parameters as structured classes and properties of the new ontology (RaDiOS). We carefully set the relationships among the parameters so to allow automated inference from the ontology. CONCLUSIONS: RaDiOS is an ontology that serves as a data repository to automatically build simulation models for the economic assessment of newborn screening for rare diseases.

Cost-effectiveness of newborn screening for severe combined immunodeficiency.

Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at young age. Early detection shortly after birth, followed by treatment before infections occur, largely increases the chances of survival. As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is relevant for decision making. Lifetime costs and effects of newborn screening for SCID were compared to a situation without screening in the Netherlands in a decision analysis model. Model parameters were based on literature and expert opinions. Sensitivity analyses were performed. Due to earlier detection, the number of deaths due to SCID per 100,000 children was assessed to decrease from 0.57 to 0.23 and a number of 11.7 quality adjusted life-years (QALYs) gained was expected. Total yearly healthcare costs, including costs of screening, diagnostics, and treatment, were €390,800 higher in a situation with screening compared to a situation without screening, resulting in a cost-utility ratio of €33,400 per QALY gained.Conclusion: Newborn screening for SCID might be cost-effective. However, there is still a lot of uncertainty around the cost-effectiveness estimate. Pilot screening projects are warranted to obtain more accurate estimates for the European situation. What is Known: • Severe combined immunodeficiency (SCID) is a condition that often results in severe infections and death at a young age. • As the incidence of SCID is low, assessing cost-effectiveness of adding screening for SCID to the newborn screening program is needed. What is New: • Newborn screening for SCID is expected to reduce mortality from 0.57 to 0.23 per 100,000 children at additional healthcare costs of €390,800. The cost-utility ratio is €33,400 per QALY gained. • Due to large uncertainty around cost-effectiveness estimates, pilot screening projects are warranted for Europe.

Cost-effectiveness analysis of pulse oximetry screening for critical congenital heart defects following homebirth and early discharge.

Pulse oximetry (PO) screening is used to screen newborns for critical congenital heart defects (CCHD). Analyses performed in hospital settings suggest that PO screening is cost-effective. We assessed the costs and cost-effectiveness of PO screening in the Dutch perinatal care setting, with home births and early postnatal discharge, compared to a situation without PO screening. Data from a prospective accuracy study with 23,959 infants in the Netherlands were combined with a time and motion study and supplemented data. Costs and effects of the situations with and without PO screening were compared for a cohort of 100,000 newborns. Mean screening time per newborn was 4.9 min per measurement and 3.8 min for informing parents. The additional costs of screening were in total €14.71 per screened newborn (€11.00 personnel, €3.71 equipment costs). Total additional costs of screening and referral were €1,670,000 per 100,000 infants. This resulted in an incremental cost-effectiveness ratio of €139,000 per additional newborn with CCHD detected with PO, when compared to a situation without PO screening. A willingness-to-pay threshold of €20,000 per gained QALY for screening in the Netherlands makes the screening likely to be cost-effective.Conclusion: PO screening in the Dutch care setting is likely to be cost-effective. What is Known: • Pulse oximetry is increasingly implemented as a screening tool for critical congenital heart defects in newborns. • Previous studies suggest that the screening in cost-effective and in the USA a reduction in infant mortality from critical congenital heart defects was demonstrated. What is New: • This is the first cost-effectiveness analysis for pulse oximetry screening in a setting with screening after home births, with screening at two moments. • Costs of pulse oximetry screening in a setting with hospital and homebirth deliveries were €14.71 and is likely to be cost-effective accordint to Dutch standards.

Societal value of newborn screening for severe combined immune deficiency in Arkansas: An economic analysis.

Newborn screening (NBS) is a public health program that detects genetic conditions in neonates enabling treatment before clinical symptoms manifest. Severe combined immune deficiency (SCID) is a primary immune deficiency found in the absence of functioning T and B lymphocytes. Hematopoietic cell transplantation is a potentially curative treatment if received within the first 42 months of life; without treatment, this condition is fatal in the first 2 years of life due to severe opportunistic infections. SCID was added to the recommended uniform panel of conditions for inclusion in state NBS programs in 2010. This manuscript examines the societal costs and benefits of NBS for SCID in Arkansas and implications to health services and social welfare. Total cost per year of all NBS for SCID and resulting early treatment for one patient with SCID in Arkansas is estimated at $1,078,714. Cost of late treatment of one patient with SCID is estimated at $1.43 million. Based on an expected diagnosis of one patient per year in Arkansas, this results in an estimated net cost savings for NBS for SCID in Arkansas of $351,286 per year. Based on cost-effectiveness analysis, NBS for SCID in Arkansas is cost-effective, with higher societal benefit than cost.

A Low-Cost and Simple Genetic Screening for Cystic Fibrosis Provided by the Brazilian Public Health System.

Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

Early Childhood Inpatient Costs of Critical Congenital Heart Disease.

OBJECTIVE: To assess longitudinal estimates of inpatient costs through early childhood in patients with critical congenital heart defects (CCHDs), for whom reliable estimates are scarce, using a population-based cohort of clinically validated CCHD cases. STUDY DESIGN: Longitudinal retrospective cohort of infants with CCHDs live born from 1997 to 2012 in Utah. Cases identified from birth defect registry data were linked to inpatient discharge abstracts and vital records to track inpatient days and costs through age 10 years. Costs were adjusted for inflation and discounted by 3% per year to generate present value estimates. Multivariable models identified infant and maternal factors potentially associated with higher resource utilization and were used to calculate adjusted costs by defect type. RESULTS: The final statewide cohort included 1439 CCHD cases among 803 509 livebirths (1.8/1000). The average cost per affected child through age 10 years was $136 682 with a median of $74 924 because of a small number of extremely high cost children; costs were highest for pulmonary atresia with ventricular septal defect and hypoplastic left heart syndrome. Inpatient costs increased by 1.6% per year during the study period. A single birth year cohort (~50 000 births/year) had estimated expenditures of $11 902 899 through age 10 years. Extrapolating to the US population, inpatient costs for a single birth year cohort through age 10 years were ~$1 billion. CONCLUSIONS: Inpatient costs for CCHDs throughout childhood are high and rising. These revised estimates will contribute to comparative effectiveness research aimed at improving the value of care on a patient and population level.

Screening for Duchenne muscular dystrophy in Germany, 1977-2011: A personal story.

EDITOR'S NOTE: This article by Dr. Günter Scheuerbrandt is a fascinating personal account and historical narrative of the birth and development of a screening program for Duchenne Muscular Dystrophy in Germany, beginning 40 years ago. As the author notes, approval of an institutional review board or ethics committee was not required for this type of scientific investigation in one's field at the time this program was begun, but we have removed all personal data from any of the materials presented in here in order to conform to current concepts of ethical publication. This article is about the screening of 528,410, mostly 4-6-week-old, boys in Germany between 1977 and 2011 for high levels of creatine kinase (CK) to identify those with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). During these 34 years of infant screening, 147 boys with confirmed, probable, and possible DMD (incidence 1:3,600 male births) and 33 boys with confirmed, probable, and possible BMD (incidence 1:15,500 male births) were found. Research reports about DMD were sent to families and pediatricians participating in the screening, and, on request, to families and scientists everywhere. It is hoped that screening programs used as the basis for future therapies will be able to modify the natural history of boys with DMD. New dystrophin mutations will continue to occur, necessitating screening and early therapy. Abstract Submitted for Presentation at the 10th International Society for Neonatal Screening-Asia Pacific Regional Meeting, August 2017, Ulaanbataar, Mongolia. Muscle Nerve 57: 185-188, 2018.

Province-wide Biliary Atresia Home Screening Program in British Columbia: Evaluation of First 2 Years.

BACKGROUND AND OBJECTIVES: Biliary atresia (BA), a rare newborn liver disease, is the leading cause of liver-related death in children. Early disease recognition and timely surgical Kasai hepatoportoenterostomy (KP) offers long-term survival without liver transplant. Universal BA screening in Taiwan using infant stool color cards (ISCCs) has proven effectiveness. We report our experience with infant stool color card (ISCC) BA screening in a province-wide program in British Columbia (BC). The objective of this study is to assess program performance and cost from launch April 1, 2014 to March 31, 2016. METHODS: ISCCs distributed to families upon maternity ward discharge. Parents were instructed to monitor their infant's stool color for 1 month and contacted the screening center with concerns. The number of live births, ISCC distribution, BA cases, and costs were recorded. Cases with Program screen success had both acholic stool recognition (ISCC screen success) and timely referral for BA. RESULTS: All 126 maternity units received ISCCs. Of 87,583 live births there were 6 BA cases. Of the 5 cases with ISCC Screen Success 3 had Program Screen Success. The median KP age in the program screen success and failure groups was 49 (42-52) and 116 (49-184) days, respectively. Program sensitivity was 50%, specificity 99%, positive predictive value 4%, and negative predictive value 99%. A random sample of 1054 charts at BC Children's Hospital found an ISCC distribution rate of 94%. After a phase-in period, the annual program cost was $30,033.82, and the ISCC cost per birth was $0.68. CONCLUSIONS: The screening program has high specificity and distribution with low cost. Successful program case identification had earlier age at KP. Program modifications aim to improve sensitivity. Longer-term studies will determine program impact on health outcomes.

The BabySeq project: implementing genomic sequencing in newborns.

BACKGROUND: The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns. METHODS: Families of newborns are enrolled from Boston Children's Hospital and Brigham and Women's Hospital nurseries, and half are randomized to receive genomic sequencing and a report that includes monogenic disease variants, recessive carrier variants for childhood onset or actionable disorders, and pharmacogenomic variants. All families participate in a disclosure session, which includes the return of results for those in the sequencing arm. Outcomes are collected through review of medical records and surveys of parents and health care providers and include the rationale for choice of genes and variants to report; what genomic data adds to the medical management of sick and healthy babies; and the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of healthy and sick newborns. DISCUSSION: The BabySeq Project will provide empirical data about the risks, benefits and costs of newborn genomic sequencing and will inform policy decisions related to universal genomic screening of newborns. TRIAL REGISTRATION: The study is registered in ClinicalTrials.gov Identifier: NCT02422511 . Registration date: 10 April 2015.

ETHICS EVALUATION REVEALING DECISION-MAKER MOTIVES: A CASE OF NEONATAL SCREENING.

OBJECTIVES: This paper aims to describe the added value of combining cost-effectiveness and ethical evaluations when the preferences of the decision maker toward cost-effectiveness evaluation outcomes are not known, with the French national neonatal screening of cystic fibrosis (CF) as a case-study. METHODS: A cost-effectiveness analysis comparing four CF neonatal screening strategies, with or without DNA testing, was performed. Ethical positions toward their outcomes were described. In addition, a post-hoc analysis of the ethical issues being considered relevant from the decision-makers' perspective was conducted. RESULTS: Two strategies were found equally cost-effective. Among them, choosing the non-DNA or a DNA-based strategy constrains the decision maker to render a judgement between different ethical issues or disagreements associated with the screening program. CONCLUSIONS: The analysis supports the relevance of combining cost-effectiveness and ethics evaluation in developing health policy, as a way to reveal or clarify the motives associated with health. The choice of the decision maker to favor the DNA-based strategy, which was not originally recommended, creates the opportunity to make explicit the role played by ethical issues in the decision.

Retinopathy of prematurity: the high cost of screening regional and remote infants.

IMPORTANCE: Demand for retinopathy of prematurity (ROP) screening is increasing for infants born at rural and regional hospitals where the service is not generally available. The health system cost for screening regional/remote infants has not been reported. BACKGROUND: The objective of this study is to evaluate the cost of ROP screening at a large centralized tertiary neonatal service for infants from regional/rural hospitals. DESIGN: This is a retrospective study to establish the cost of transferring regional/rural infants to the Royal Brisbane and Women's Hospital for ROP screening over a 28-month period. PARTICIPANTS: A total of 131 infants were included in this study. METHODS: Individual infant costs were calculated from analysis of clinical and administrative records. MAIN OUTCOME MEASURES: Economic cost of ROP screening for all transfers from regional/rural hospitals to Royal Brisbane and Women's Hospital. RESULTS: The average economic cost of ROP screening for this cohort was AUD$5110 per infant screened and the total cost was AUD$669 413. The average cost per infant screened was highest for infants from a regional centre with a population of 75 000 (AUD$14 856 per child), which was also geographically furthest from Brisbane. No infant in this cohort transferred from a regional nursery reached criteria for intervention for ROP by standard guidelines. CONCLUSIONS AND RELEVANCE: Health system costs for ROP screening of remote infants at a centralized hospital are high. Alternative strategies using telemedicine can now be compared with centralized screening.

Utilization of ultrasonography to detect developmental dysplasia of the hip: when reality turns selective screening into universal use.

BACKGROUND: Developmental dysplasia of the hip (DDH) occurs in 3-5 of 1000 live births and is associated with known risk factors. In most countries, formal practice for early detection of DDH entails the combination of risk factor identification and physical examination of the hip, while the golden standard diagnostic instrument is hip ultrasonography (US). This practice is commonly referred to as selective screening. Infants with positive US findings are treated with a Pavlik harness, a dynamic abduction splint. The objective of our study was to evaluate hip US utilization patterns in Maccabi Healthcare Services (MHS), a large health plan. METHODS: Study population: All MHS members, born between June 2011 and October 2014, who underwent at least one US before the age of 15 months. STUDY VARIABLES: Practice specialty and number of enrolled infants. Positive US result was defined as referral to an abduction splint. Cost was based on Ministry of Health price list. Chi square and correlation coefficients were employed in the statistical analysis. RESULTS: Of the 115,918 infants born during the study period, 67,491 underwent at least one hip US. Of these, 60.6% were female, mean age at performance: 2.2 months. Of those who underwent US, 625 (0.93%) were treated with a Pavlik harness: 0.24% of the male infants and 1.60% of the female infants (p < 0.001). Analysis of physician practice characteristics revealed that referral to US was significantly higher among pediatricians as compared with general practitioners (60% and 35%, respectively). Practice volume had no influence on referral rate. Direct medical costs of the 107 hip US examinations performed that led to detection of one positive case (treated by Pavlik): US$10,000. CONCLUSIONS: Current pattern of hip US utilization for early detection of DDH resembles universal screening more closely than selective screening. This can inform policy decisions as to whether a stricter selective screening or a formal move to universal screening is appropriate in Israel.

Cost-Effectiveness Methods and Newborn Screening Assessment.

Nowadays, health funding decisions must be supported by sound arguments in terms of both effectiveness and economic criteria. After more than half a century of newborn screening for rare diseases, the appropriate economic evaluation framework for these interventions is still challenging. The validity of standard methods for economic evaluation heavily relies on the availability of robust evidence, but collection of such evidence is precluded by the rareness of the conditions that may benefit from screening. Furthermore, there are a series of conceptual and methodological limitations that warrant further careful consideration when assessing the cost-effectiveness of newborn screening programs. In this chapter we provide a general overview of current economic evaluation methods and the challenges for their application to newborn screening programs.

Economic evaluation of long-term impacts of universal newborn hearing screening.

OBJECTIVE: Little is known about the long-term efficacious and economic impacts of universal newborn hearing screening (UNHS). DESIGN: An analytical Markov decision model was framed with two screening strategies: UNHS with transient evoked otoacoustic emission (TEOAE) test and automatic acoustic brainstem response (aABR) test against no screening. By estimating intervention and long-term costs on treatment and productivity losses and the utility of life years determined by the status of hearing loss, we computed base-case estimates of the incremental cost-utility ratios (ICURs). The scattered plot of ICUR and acceptability curve was used to assess the economic results of aABR versus TEOAE or both versus no screening. STUDY SAMPLE: A hypothetical cohort of 200,000 Taiwanese newborns. RESULTS: TEOAE and aABR dominated over no screening strategy (ICUR = $-4800.89 and $-4111.23, indicating less cost and more utility). Given $20,000 of willingness to pay (WTP), the probability of being cost-effective of aABR against TEOAE was up to 90%. CONCLUSIONS: UNHS for hearing loss with aABR is the most economic option and supported by economically evidence-based evaluation from societal perspective.