Cost-effectiveness analysis of newborn screening for biotinidase

deficiency

• Laura Vallejo Torres, Universidad de la Laguna• Iván Castilla Rodríguez, Servicio de Evaluación del Servicio Canario de la Salud• Celia Pérez-Cerdá, Universidad Autónoma de Madrid• Jaume Campistol Plana, Hospital Sant Joan de Déu• Mercé Pineda, Hospital Sant Joan de Déu• Arantzazu Arrospide Elgarresta, Unidad de Investigación Sanitaria Gipuzkoa

Oeste• Elena Martín Hernández, Hospital Universitario Doce de Octubre• María de la Luz Couce Pico, Hospital Clínico Universitario, Santiago de

Compostela

• The MSSSI aims to reduce inequalities in the newborn screening programmes (NSP) offered in the different regions in Spain

• From 2013, the number of conditions that ought to be universally screened in Spain have increased to 7 (Congenital hypothyrodoism, PKU, Cystic fibrosis, MCADD, LCHADD, GA-I and Sickle Cell Disease)

• Now the MSSSI is considering the incorporation of three other conditions, including biotinidase deficiency (BD)

Background

Background

• NSPs have to meet a series of requirements

• We aim to evaluate the cost-effectiveness of incorporating biotinidase deficiency to the newborn screening programme in Spain

Disease Burden?

Effective, safe, easy

test?

Effective early

treatment?

Cost-effective?

Acceptable?

Biotinidase Deficiency (BD)

• BD is an autosomal recessively inherited disorder that is characterised by seizures, hypotonia, skin problems, hearing loss, vision problems, and cognitive disorders

• There are two forms: Partial BD and Profound BD

• The symptoms can be successfully treated or prevented by administering biotin

• But some symptoms, once they occur, are irreversible (hearing and vision loss, developmental delay)

• BD testing consists of measurement of biotinidase activity in blood-saturated filter paper

Cost-effectiveness analysis: Methodology

Alternatives: BD screening vs Clinical diagnosis based on symptoms

Perspective: NHS & social care/societal Effectiveness: Quality-Adjusted Life Year (QALYs) Resource use: Guidelines of clinical practice and experts Unit costs: Various sources (mean of regional tariffs, national MSSSI

data, Portalfarma, etc.) Time horizon: Life expectancy Discount: 3% for costs and QALYs Modelling: Decision tree Sensitivity analysis: PSA based on Monte Carlo simulation

Simplified conceptual model

(Some) Data

(Some) parameters Value Source

Probabilities

Prevalence Profound: 1:67,620

Screening programme of Galicia (1987-2013)

Partial: 1:33,810Sensitivity 100%

Specificity 99.99%

Probability of (some) events without newborn screening

Hearing loss: 62%Literature review: series of case

studies Optic atrophy: 17%

Cognitive disorders: 35%Costs

Screening test 0.9 € Screening programme of Galicia

MEDEBIOTIN 5mg 40 tablets 3.63€ Portalfarma

QALY weights

Moderate hearing loss 0.910 Carroll, Downs. Improving decision analyses: parent

preferences (utility values) for pediatric health

outcomes. J. Pediatr. 2009

Moderate vision loss0.850

Moderate cognitive disorder0.790

Results - Deterministic

Results Screening

No

Screening Incremental ICER

QALY (minimum) 62.63287 62.63271 0.00015

Screening

strategy

dominates

 

QALY (additive) 62.63287 62.63269 0.00017

QALY (multiplicative) 62.63287 62.63269 0.00017

Cost (including social care costs) 1.56€ 3.96€ -2.39€

Cost (including productivity costs) 1.56€ 10.69€ -9.12€

Cost (excluding social care costs) 1.56€ 1.32€ 0.25€ 1,601 €/QALY

Results – Cost-Effectiveness Plane

Results – Cost-effectiveness Acceptability Curve

Results – Budget Impact

Discussion

• Prevalence is higher than that published in other countries – less severe cases?– Ignoring benefit in partial cases still yielded to cost-

effective results

• Uncertainty due to small, non-comparative studies– Probabilistic analysis shows robust results

• Assumptions w.r.t. long term outcomes– Unavoidable when life-expectancy perspective is called for

Conclusions

• The results of this study show that newborn screening for biotinidase deficiency is both more effective and less expensive than clinical diagnosis based on symptoms

• The results were robust in the sensitivity analysis

• We recommend the inclusion of BD screening into the national newborn screening programme

l.vallejo@ull.es

Gracias por su atención