Economic Evaluation of Next-Generation Sequencing Technologies in Paediatric Patient Groups With Rare Diseases: a Systematic Review
Author(s)
Marianna De Stefano, M.A.1, Rudolf van Olden, MD, PhD2, Elnaz Arjmand, M.A.1, Julian Nam, MSc3, Lasse de Fries Jensen, MSc4, Birgit Schäfer, .5, Janbernd Kirschner, Dr. med.6, Alessandra Ferlini, MD, PhD7, Rudolf Blankart, PhD1, Bela Bapat, MA (Applied Economics), MA (Economics)8, Rachel Cassidy, PhD1.
1University of Bern, Bern, Switzerland, 2Novartis, Basel, Switzerland, 3Roche, Basel, Switzerland, 4Novo Nordisk, Copenhagen, Denmark, 5Illumina, Berlin, Germany, 6University of Freiburg, Freiburg, Germany, 7University of Ferrara, Ferrara, Italy, 8Illumina, Apex, NC, USA.
1University of Bern, Bern, Switzerland, 2Novartis, Basel, Switzerland, 3Roche, Basel, Switzerland, 4Novo Nordisk, Copenhagen, Denmark, 5Illumina, Berlin, Germany, 6University of Freiburg, Freiburg, Germany, 7University of Ferrara, Ferrara, Italy, 8Illumina, Apex, NC, USA.
Presentation Documents
OBJECTIVES: Next generation sequencing (NGS) technologies can be used for screening and early detection of rare disease, with potential to reduce morbidity with timely disease specific management and to help avoid a lengthy diagnostic odyssey for the family. This review identified current evidence on the economic evaluation of NGS technologies for the diagnosis of rare diseases in paediatric populations.
METHODS: A search strategy was developed to retrieve relevant literature from the Cochrane Library, EconLit, Embase, Global Health, Medline, Scopus, and Web of Science databases interrogated for relevant literature. Articles were retained if the study described a full economic evaluation on use of NGS technologies for detection of a rare disease in paediatrics, conducted in member states of either the Organisation for Economic Co-operation and Development or the European Union.
RESULTS: A total of 24 articles were retained, with the majority of studies conducted in Australia (n=14), with wide variation in sample size (32 - 1,259 individuals), screened health conditions and model time horizon (3 months to lifetime). Most studies took a healthcare sector perspective (n=16), with diagnostic yield the most frequently reported measure of effectiveness (n=23) followed by quality-adjusted life years (n=6). Over half of studies found that NGS dominated the traditional diagnostic pathway (n=14), with less than a third finding NGS to be a more expensive option but proving cost-effective due to a significantly higher diagnostic yield (n=7).
CONCLUSIONS: Use of NGS was found to dominate or was at least cost-effective when compared to standard procedures for rare disease detection. Critical areas for future research include generating further evidence on the cost-effectiveness of the technology in healthy or asymptomatic populations (newborn screening programmes) and expanding measures for assessing NGS effectiveness, including use of quality-adjusted life years to compare strategies.
METHODS: A search strategy was developed to retrieve relevant literature from the Cochrane Library, EconLit, Embase, Global Health, Medline, Scopus, and Web of Science databases interrogated for relevant literature. Articles were retained if the study described a full economic evaluation on use of NGS technologies for detection of a rare disease in paediatrics, conducted in member states of either the Organisation for Economic Co-operation and Development or the European Union.
RESULTS: A total of 24 articles were retained, with the majority of studies conducted in Australia (n=14), with wide variation in sample size (32 - 1,259 individuals), screened health conditions and model time horizon (3 months to lifetime). Most studies took a healthcare sector perspective (n=16), with diagnostic yield the most frequently reported measure of effectiveness (n=23) followed by quality-adjusted life years (n=6). Over half of studies found that NGS dominated the traditional diagnostic pathway (n=14), with less than a third finding NGS to be a more expensive option but proving cost-effective due to a significantly higher diagnostic yield (n=7).
CONCLUSIONS: Use of NGS was found to dominate or was at least cost-effective when compared to standard procedures for rare disease detection. Critical areas for future research include generating further evidence on the cost-effectiveness of the technology in healthy or asymptomatic populations (newborn screening programmes) and expanding measures for assessing NGS effectiveness, including use of quality-adjusted life years to compare strategies.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EE505
Topic
Economic Evaluation
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, SDC: Pediatrics, SDC: Rare & Orphan Diseases