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How to Translate DNA Methylation Biomarkers Into Clinical Practice

Recent advances in sequencing technologies provide unprecedented opportunities for epigenetic biomarker development. Particularly the DNA methylation pattern—which is modified at specific sites in the genome during cellular differentiation, aging, and disease—holds high hopes for a wide variety of d...

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Autor principal: Wagner, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905294/
https://www.ncbi.nlm.nih.gov/pubmed/35281115
http://dx.doi.org/10.3389/fcell.2022.854797
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author Wagner, Wolfgang
author_facet Wagner, Wolfgang
author_sort Wagner, Wolfgang
collection PubMed
description Recent advances in sequencing technologies provide unprecedented opportunities for epigenetic biomarker development. Particularly the DNA methylation pattern—which is modified at specific sites in the genome during cellular differentiation, aging, and disease—holds high hopes for a wide variety of diagnostic applications. While many epigenetic biomarkers have been described, only very few of them have so far been successfully translated into clinical practice and almost exclusively in the field of oncology. This discrepancy might be attributed to the different demands of either publishing a new finding or establishing a standardized and approved diagnostic procedure. This is exemplified for epigenetic leukocyte counts and epigenetic age-predictions. To ease later clinical translation, the following hallmarks should already be taken into consideration when designing epigenetic biomarkers: 1) Identification of best genomic regions, 2) pre-analytical processing, 3) accuracy of DNA methylation measurements, 4) identification of confounding parameters, 5) accreditation as diagnostic procedure, 6) standardized data analysis, 7) turnaround time, and 8) costs and customer requirements. While the initial selection of relevant genomic regions is usually performed on genome wide DNA methylation profiles, it might be advantageous to subsequently establish targeted assays that focus on specific genomic regions. Development of an epigenetic biomarker for clinical application is a long and cumbersome process that is only initiated with the identification of an epigenetic signature.
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spelling pubmed-89052942022-03-10 How to Translate DNA Methylation Biomarkers Into Clinical Practice Wagner, Wolfgang Front Cell Dev Biol Cell and Developmental Biology Recent advances in sequencing technologies provide unprecedented opportunities for epigenetic biomarker development. Particularly the DNA methylation pattern—which is modified at specific sites in the genome during cellular differentiation, aging, and disease—holds high hopes for a wide variety of diagnostic applications. While many epigenetic biomarkers have been described, only very few of them have so far been successfully translated into clinical practice and almost exclusively in the field of oncology. This discrepancy might be attributed to the different demands of either publishing a new finding or establishing a standardized and approved diagnostic procedure. This is exemplified for epigenetic leukocyte counts and epigenetic age-predictions. To ease later clinical translation, the following hallmarks should already be taken into consideration when designing epigenetic biomarkers: 1) Identification of best genomic regions, 2) pre-analytical processing, 3) accuracy of DNA methylation measurements, 4) identification of confounding parameters, 5) accreditation as diagnostic procedure, 6) standardized data analysis, 7) turnaround time, and 8) costs and customer requirements. While the initial selection of relevant genomic regions is usually performed on genome wide DNA methylation profiles, it might be advantageous to subsequently establish targeted assays that focus on specific genomic regions. Development of an epigenetic biomarker for clinical application is a long and cumbersome process that is only initiated with the identification of an epigenetic signature. Frontiers Media S.A. 2022-02-23 /pmc/articles/PMC8905294/ /pubmed/35281115 http://dx.doi.org/10.3389/fcell.2022.854797 Text en Copyright © 2022 Wagner. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cell and Developmental Biology
Wagner, Wolfgang
How to Translate DNA Methylation Biomarkers Into Clinical Practice
title How to Translate DNA Methylation Biomarkers Into Clinical Practice
title_full How to Translate DNA Methylation Biomarkers Into Clinical Practice
title_fullStr How to Translate DNA Methylation Biomarkers Into Clinical Practice
title_full_unstemmed How to Translate DNA Methylation Biomarkers Into Clinical Practice
title_short How to Translate DNA Methylation Biomarkers Into Clinical Practice
title_sort how to translate dna methylation biomarkers into clinical practice
topic Cell and Developmental Biology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905294/
https://www.ncbi.nlm.nih.gov/pubmed/35281115
http://dx.doi.org/10.3389/fcell.2022.854797
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