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Updated: Dec 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Commentary on ICH guideline on genomic sampling and data management-enabling opportunities in drug development and
Falk Ehmann1, Jeroen Aerssens1, Rebecca Blanchard1
1European Medicines Agency, Domenico Scarlattilaan 6, 1083, HS, Amsterdam, The Netherlands.
Abstract:
The ability to benefit from knowledge of human genomic data in medicine has been anticipated since the sequencing of the human genome. That promise has experienced some degree of realization, particularly in oncology where biomarker-specific clinical trials and patient treatment specific to the genetics of their tumours now occur. With whole genome sequencing and related technologies becoming more affordable, and the generation and management of vast amounts of data and information, more capable, new opportunities to benefit from these developments lie ahead. Already emerging are many studies describing the association of genomic variation with molecular underpinnings of disease, association with patient response to drugs and informing the nomination of new drug targets. These developments are accompanied by some ethical, legal and regulatory challenges, which we discuss in this article.
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