Genetics in medicine : official journal of the American College of Medical Genetics
Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature review.
Marianna De Stefano, Rudolf van Olden, Elnaz Arjmand, Julian Nam, Lasse de Fries Jensen, Birgit Schäfer, Janbernd Kirschner, Alessandra Ferlini, Carl Rudolf Blankart, Rachel Cassidy
Published: 202510.1016/j.gim.2025.101655
Abstract
PURPOSE: Next-generation sequencing (NGS) can accelerate the diagnosis of rare diseases (RDs). Economic evaluations assess the costs and benefits of new technologies and can help inform policy decisions on upscaled adoption into clinical practice. Th…
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