Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature review
Although evidence shows that NGS technologies are generally cost-effective when used to screen for RD in pediatrics, there is a need for standardized approaches to contribute robust evidence that can be used to effectively support health care policy in this area.
Authors
- Rachel Cassidy (ORCID: https://orcid.org/0000-0002-4824-0260)
- Julian Nam (ORCID: https://orcid.org/0000-0002-2403-1704)
- Janbernd Kirschner (ORCID: https://orcid.org/0000-0003-1618-7386)
- Lasse de Fries Jensen (ORCID: https://orcid.org/0000-0003-3511-2822)
- Rudolf van Olden (ORCID: https://orcid.org/0009-0004-8130-9858)
- Carl Rudolf Blankart (ORCID: https://orcid.org/0000-0001-6719-0038)
- Benedikt Schäfer (ORCID: https://orcid.org/0000-0002-4251-4128)
- Alessandra Ferlini (ORCID: https://orcid.org/0000-0001-8385-9870)
- Manuela De Stefano (ORCID: https://orcid.org/0000-0001-8012-9645)
- Elnaz Arjmand
Institutions
- Roche (Switzerland) (CH)
- University of Bern (CH)
- Novartis (Switzerland) (CH)
- Illumina (United States) (US)
- Novo Nordisk (Denmark) (DK)
- University of Ferrara (IT)
- University Medical Center Freiburg (DE)
Publication Details
- Journal
- Genetics in Medicine
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1016/j.gim.2025.101655
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00