Committee on Omics Translation (C-OT)

“Omics” refers to the totality of a field of study. Many types of omics have been described, including: glycomics, lipidomics, metabolomics, pharmacogenomics, proteomics, transcriptomics, and volatolomics. Omics information has the potential to lead to improvement in many facets of human life and society, including the understanding, diagnosis, treatment and prevention of disease; advances in agriculture, environmental science and remediation; and our understanding of evolution and ecological systems.

Terms of Reference:

The evaluation of new omic technologies and analyte targets with potential for implementation in a clinical laboratory setting

1. To provide guidance for complex multi-analyte omics testing including data integration and interpretation.
2. To review omics technology guidelines and position papers in conjunction with other professional organisations.
3. To provide guidance on pre-analytical factors for omics applications including consideration of sample matrices
4. To provide an in-depth assessment of emerging volatolomics technologies and their impact on the diagnosis, management and understanding of human diseases.

Today, there is an increasing need for researchers and clinicians to understand the scope and results of omics research and incorporate the incorporate this information into diagnostics, therapeutics and studies of disease etiology.

Objectives

The Omics Committee seeks to assess the diagnostic significance and impact of omics technology. Initially, the committee will focus on two of the omics:

A. Genomics (including the related epigenomics and transcriptomics);
B. Volatolomics.

A. Genomics
One of the best-known examples of omics is genomics. Genomics is defined as: “a branch of biotechnology concerned with applying the techniques of genetics and molecular biology to the genetic mapping and DNA sequencing of sets of genes or the complete gene set of selected organisms, with organizing the results in databases, and with applications of the data (as in medicine or biology)”. Indeed, the field of genetics is not only one of the most rapidly advancing areas of the life sciences, but also one that has a major impact on all of our lives because of its central role in medicine and biotechnology. Furthermore, advances in genomics, and more broadly in biomedical research, have been greatly facilitated by significant and sustained throughput increases, cost decreases, and improvements in ease of use of genomics technology.

The ability to assay genomes comprehensively has been made possible by the enormous reduction of costs and development of many informative assays in the past few decades. Technology advances, particularly new sequencing systems, have enabled many research projects that are producing stunning insights into biology and disease. Extending beyond sequence per se, assays have been developed to determine nucleotide modifications, chromatin state, nuclear organization, and dynamics of those features achieving the low costs and high quality needed to use comprehensive genomic information in many research applications or in individual health care.

The Committee proposes to provide an in-depth assessment of emerging genomics tools and their impact on the diagnosis, management and understanding of human diseases.

The initial focus will be on:
1) Single cell/small sample genomics,
2) High throughput biochemical and other tools to modulate gene expression,
3) Foundational technologies (e.g., efficient sample preparation),
4) Genome-wide functional analyses,
5) Transcriptomics,
6) Epigenomics,

Emerging technologies that may add substantial advances beyond existing approaches, and, if successful, significantly propel forward the field of genomics will be evaluated.
Examples of candidate technologies include:

• DNA, RNA, epigenome, transcriptome and chromatin analysis from the same sample;
• High-throughput genome modifications for replacement, activation and inhibition, with genomic readout;
• Technologies for scaling genomic assays to operate on 10,000 samples costeffectively for e.g., single cell/small samples and for large numbers of samples (e.g., sampling of heterogeneity, population studies);
• Hand-held DNA analyzers (e.g., based on Smartphones, nanopore technology).

B. Volatolomics
Volatolomics is the study of volatile organic compounds (VOCs) emitted by a biological system. It is assuming increasing importance in diagnostics with the potential for noninvasive point-of-care testing based on the profiles of VOCs in exhaled breath.

The Committee proposes to provide an in-depth assessment of emerging volatolomics technologies and their impact on the diagnosis, management and understanding of human diseases.
The initial focus will be on:

1. Analytical methods for VOCs (e.g., MS, colorimetry),
2. Current status of clinical applications of volatolomics at the point-of-care
3. Role of Artificial Intelligence in disease detection based on VOC profiles