The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism

Bessey, Alice; Chilcott, James; Pandor, Abdullah; Paisley, Suzy

doi:10.3390/ijns6040093

Cited by 18 publications

(22 citation statements)

References 34 publications

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“…(Rarediseases.org; [ 23 ]) Outcomes The therapeutic strategy changes the prognosis only for some forms of the condition Pre-symptomatic initiation results in better outcomes For 80–90% of people with GA1, motor symptom development is preventable, but this requires early diagnosis by newborn screening and treatment from birth on. (Rarediseases.org) Frequency Incidence/prevalence is≥1/100,000 and <1/50,000 Birth incidence is 1/100,000 [ 24 ] …”

Section: Table A1mentioning

confidence: 99%

“…(Rarediseases) Patients who present symptomatically can have significant neurologic sequelae including neurodevelopmental delay, especially if acidosis and hyperammonemia are severe. (Orphanet) Frequency Incidence/prevalence is≥1/150,000 and <1/100,000 Birth incidence is 0.83/100,000 (~1/120,000) [ 24 ] …”

Section: Table A1mentioning

confidence: 99%

“…(Rarediseases) Onset Onset of classic MSUD (50–75% of cases) (Orphanet) occurs in the neonatal period, usually within the first 24–48 h of life. ( , accessed on 31 May 2021) Performance DBS test has a low false-positive rate or a high PPV [ 24 ] Outcomes The therapeutic strategy changes the prognosis for all forms of the condition Pre-symptomatic initiation results in better outcomes If identified prior to the development of symptoms, outcomes are generally better, with normal growth and development. (Rarediseases) Patients who present symptomatically can have significant neurologic sequelae including neurodevelopmental delay, especially if acidosis and hyperammonemia are severe.…”

Section: Table A1mentioning

confidence: 99%

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

Burlina¹,

Jones

Chakrapani

et al. 2022

IJNS

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Newborn screening (NBS) programmes are essential in the diagnosis of inherited metabolic diseases (IMDs) and for access to disease modifying treatment. Most European countries follow the World Health Organisation (WHO) criteria to determine which disorders are appropriate for screening at birth; however, these criteria are interpreted and implemented by individual countries differently, creating disparities. Advances in research and diagnostics, together with the promise of new treatments, offer new possibilities to accelerate the expansion of evidence-based screening programmes. A novel and robust algorithm was built to objectively assess and prioritise IMDs for inclusion in NBS programmes. The Wilson and Jungner classic screening principles were used as a foundation to develop individual and measurable criteria. The proposed algorithm is a point-based system structured upon three pillars: condition, screening, and treatment. The algorithm was tested by applying the six IMDs currently approved in the United Kingdom NBS programme. The algorithm generates a weight-based score that could be used as the first step in the complex process of evaluating disorders for inclusion on NBS programmes. By prioritising disorders to be further evaluated, individual countries are able to assess the economic, societal and political aspects of a potential screening programme.

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Section: Table A1mentioning

confidence: 99%

Section: Table A1mentioning

confidence: 99%

Section: Table A1mentioning

confidence: 99%

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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

Burlina¹,

Jones

Chakrapani

et al. 2022

IJNS

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“… Long-chain 3 hydroxyacyl-CoA dehydrogenase deficiency LCHAD DFAM 1/110,000–1/150,000 [ 24 ] HADHA (locus: 2p23.3) Austria, Croatia, Czech Republic, Denmark, Estonia, Finland, Germany, Hungary, Iceland, Italy, Macedonia, Netherlands, Norway, Poland, Slovakia, Slovenia, Spain, Portugal, Sweden Lysosomal acid lipase deficiency LAL/LAL-D LSD 1/177,000 LIPA (locus: 10q23.31) Not studied in [ 4 , 7 , 23 ]. Maple syrup urine disease MSUD DAAM 1/135,000 [ 22 ] BCKDHA , BCKDHB and DBT (loci: 19q13.2, 6q14.1, 1p21.2) Austria, Belgium (Flemish), Belgium (Walloon), Czech Republic, Denmark, Estonia, Finland, Germany, Hungary, Iceland, Ireland, Italy, Netherlands, Macedonia, Norway, Poland, Portugal, Slovakia, Slovenia, Sweden, Switzerland, UK Medium-chain acyl-CoA dehydrogenase deficiency MCAD/MCADD DFAM 1/4900–1/27,000 in Caucasian population ACADM (locus: 1p31,1) Austria, Belgium (Flemish), Croatia, Czech Republic, Denmark, Estonia, Finland, France, Germany, Hungary, Iceland, Ireland, Italy, Luxembourg, Macedonia, Norway, Netherlands, Poland, Portugal, Slovakia, Slovenia, Spain, Sweden, Switzerland, UK Metachromatic leukodystrophy MLD LSD 1/40,000–1/160,000 ** ARSA , rarely PSAP (loci: 22q13.33, 10q22.1) Not studied in [ 4 , …”

Section: Table A1mentioning

confidence: 99%

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

Jones

Cheillan

Chakrapani

et al. 2022

IJNS

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Inherited metabolic disorders (IMDs) are mostly rare, have overlapping symptoms, and can be devastating and progressive. However, in many disorders, early intervention can improve long-term outcomes, and newborn screening (NBS) programmes can reduce caregiver stress in the journey to diagnosis and allow patients to receive early, and potentially pre-symptomatic, treatment. Across Europe there are vast discrepancies in the number of IMDs that are screened for and there is an imminent opportunity to accelerate the expansion of evidence-based screening programmes and reduce the disparities in screening programmes across Europe. A comprehensive list of IMDs was created for analysis. A novel NBS evaluation algorithm, described by Burlina et al. in 2021, was used to assess and prioritise IMDs for inclusion on expanded NBS programmes across Europe. Forty-eight IMDs, of which twenty-one were lysosomal storage disorders (LSDs), were identified and assessed with the novel NBS evaluation algorithm. Thirty-five disorders most strongly fulfil the Wilson and Jungner classic screening principles and should be considered for inclusion in NBS programmes across Europe. The recommended disorders should be evaluated at the national level to assess the economic, societal, and political aspects of potential screening programmes.

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“…Developments in economic evaluations of MS/MS newborn screening in different countries have aimed to provide scienti c and reasoned evidence to support and improve newborn screening programs, including Canada [45], Germany [16,46], the US [47][48][49][50], the UK [51,52], Thailand [53] and other countries [54,55]. Most of these analyses focus on cost-effectiveness (cost-utility analysis).…”

Section: Economic Evaluation Of Ms/ms Newborn Screeningmentioning

confidence: 99%

How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

Yu¹,

Juan²,

Song³

et al. 2021

Preprint

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Background: Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study is to determine the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, and determine IEMs for detection.Methods: A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. The current screening program and nationally recommended program were compared and we also compared the programs detecting different numbers of IEMs, which are chosen from the national program. A sensitivity analysis and budget impact analysis (BIA) were performed.Results: The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical value. The BIA indicated the implementation cost of the national program to be around 580 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs. Conclusions: We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected, which we label the “ICER maximization idea” and the “ICER validation idea” are also presented.

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The Cost-Effectiveness of Expanding the UK Newborn Bloodspot Screening Programme to Include Five Additional Inborn Errors of Metabolism

Cited by 18 publications

References 34 publications

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

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