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Updated: May 21, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Lost in translation: why genomic breakthroughs are not reaching patients
Andrew Calcino1, Matt Field1,2
1Centre for Tropical Bioinformatics and Molecular Biology; College of Science and Engineering, James Cook University, Cairns, Queensland, Australia.
None:
Despite revolutionary advances in genomic technologies, a persistent disconnect exists between research discoveries and clinical implementation. This translational gap stems from misaligned incentive and funding structures: researchers prioritise publications over clinical uptake, with funding ending at proof-of-concept; clinicians face time constraints and integration challenges; regulators struggle with rapidly evolving technologies and genomics-specific complexities including variant classification and data governance. We propose that dedicated translational medicine centres are essential to bridge this divide. These centres require multidisciplinary teams spanning clinician-scientists, regulatory affairs specialists, health economists, biostatisticians and bioinformaticians, providing end-to-end support from feasibility assessment through to regulatory approval. Success requires government investment, explicit health equity assessments and measuring achievement through clinical uptake rather than traditional academic metrics.
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Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life