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Open Access 01-05-2018 | Phenomics

The role of the clinician in the multi-omics era: are you ready?

Authors: Clara D. M. van Karnebeek, Saskia B. Wortmann, Maja Tarailo-Graovac, Mirjam Langeveld, Carlos R. Ferreira, Jiddeke M. van de Kamp, Carla E. Hollak, Wyeth W. Wasserman, Hans R. Waterham, Ron A. Wevers, Tobias B. Haack, Ronald J.A. Wanders, Kym M. Boycott

Published in: Journal of Inherited Metabolic Disease | Issue 3/2018

Abstract

Since Garrod’s first description of alkaptonuria in 1902, and newborn screening for phenylketonuria introduced in the 1960s, P4 medicine (preventive, predictive, personalized, and participatory) has been a reality for the clinician serving patients with inherited metabolic diseases. The era of high-throughput technologies promises to accelerate its scale dramatically. Genomics, transcriptomics, epigenomics, proteomics, glycomics, metabolomics, and lipidomics offer an amazing opportunity for holistic investigation and contextual pathophysiologic understanding of inherited metabolic diseases for precise diagnosis and tailored treatment. While each of the -omics technologies is important to systems biology, some are more mature than others. Exome sequencing is emerging as a reimbursed test in clinics around the world, and untargeted metabolomics has the potential to serve as a single biochemical testing platform. The challenge lies in the integration and cautious interpretation of these big data, with translation into clinically meaningful information and/or action for our patients. A daunting but exciting task for the clinician; we provide clinical cases to illustrate the importance of his/her role as the connector between physicians, laboratory experts and researchers in the basic, computer, and clinical sciences. Open collaborations, data sharing, functional assays, and model organisms play a key role in the validation of -omics discoveries. Having all the right expertise at the table when discussing the diagnostic approach and individualized management plan according to the information yielded by -omics investigations (e.g., actionable mutations, novel therapeutic interventions), is the stepping stone of P4 medicine. Patient participation and the adjustment of the medical team’s plan to his/her and the family’s wishes most certainly is the capstone. Are you ready?

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Title: The role of the clinician in the multi-omics era: are you ready?
Authors: Clara D. M. van Karnebeek
Saskia B. Wortmann
Maja Tarailo-Graovac
Mirjam Langeveld
Carlos R. Ferreira
Jiddeke M. van de Kamp
Carla E. Hollak
Wyeth W. Wasserman
Hans R. Waterham
Ron A. Wevers
Tobias B. Haack
Ronald J.A. Wanders
Kym M. Boycott
Publication date: 01-05-2018
Publisher: Springer Netherlands
Published in: Journal of Inherited Metabolic Disease / Issue 3/2018
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-017-0128-1

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Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

The functional genomics laboratory: functional validation of genetic variants

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review

ACC 2024 Congress Coverage

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Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

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