An Everyday DNA blog article
Written by: Sarah Sharman, PhD
Illustrated by: Cathleen Shaw
Imagine a future where your doctor’s recommendations aren’t based on population averages but on your unique blueprint. In today’s world, we’re surrounded by conversations about health and wellness, much of it centered around the idea of personalized care. From customized fitness plans and diets to skin-care treatments based on your DNA, it’s clear that technology and scientific discovery are reshaping how we think about our bodies.
But with that rise in scientific knowledge comes a rise in scientific jargon. From apoptosis to transcriptomics, science uses a whole lot of fancy words—and, let’s be honest, some of them sound like made-up spells from a Harry Potter book.
If you’ve started to notice that a lot of these words seem to end in “-ome” or “-omics,” you’re onto something. Let’s break down this growing family of words and explore how they help scientists understand human biology and improve health, from head to toe.
What are -omics?
In biology, the suffix “-omics” refers to the large-scale study of biological molecules like DNA, RNA, proteins, and metabolites and how they function together in a system. The “-ome” ending describes the complete set of these molecules in a given cell, tissue, or organism.
-Omics science is like zooming out from a single puzzle piece to see the whole bird’s-eye view. Rather than focusing on one gene or protein at a time, omics approaches aim to understand all the components of a system and how they interact.
Some key examples of -omics fields include:
- Genomics: the study of the genome, or all of an organism’s DNA.
- Transcriptomics: the study of the transcriptome, or all the RNA messages.
- Proteomics: the study of the proteome, or all the proteins in a cell.
- Metabolomics: the study of the metabolome, the chemical byproducts of metabolism.
- Phenomics: the study of the phenome, or all physical and observable characteristics.
Each of these areas gives researchers a different layer of insight into how our bodies work. The biological systems within us are dynamic, with information constantly flowing and being processed from DNA to RNA to proteins and metabolites, ultimately shaping our traits. Changes at any point in this flow, captured by the different -omics fields, can ripple through the system and impact other levels. This understanding of the interconnected and dynamic nature of these molecular layers is driving significant advancements in human health.
-omics Applications in Human Health
How do all these -omes and -omics actually contribute to better health? Let’s explore how they’re helping scientists study disease, improve diagnosis, and design more personalized treatments.
Genomics
Genomics focuses on studying your genome (all of your DNA) to identify patterns that influence your health. Thanks to the Human Genome Project and advances in sequencing technology, scientists can now pinpoint genetic variants that raise the risk for many diseases, including cancer, diabetes, and rare inherited disorders.
Today, doctors can use that information to guide decisions about screening, prevention, and treatment. For example, someone with a BRCA1 genetic mutation might schedule earlier and more frequent breast cancer screenings.
Transcriptomics
Not all genes are “on” at all times. Transcriptomics zooms in on which genes are “turned on” (expressed) in a given tissue. Tracking the transcriptome helps scientists understand which genes are active in certain conditions, tissues, or diseases. By mapping these changes in gene expression, scientists can discover biomarkers (biological indicators) that signal risk or progression, leading to earlier intervention. These changes in RNA messages directly influence the types and amounts of proteins being produced.
Proteomics
Proteins are the final products of your genes and do the heavy lifting in your body. They digest food, power your muscles, send signals, and build cell structures. The proteome is constantly changing. It can vary depending on the environment, health status, or even the time of day.
Because protein levels shift in response to changes in your body, proteomics can offer real-time insights into your health. For example, elevated proteins in the blood might indicate inflammation or a heart attack. In the brain, certain protein buildups—like amyloid plaques—are key indicators of diseases like Alzheimer’s. These protein changes often reflect upstream changes in gene expression (transcriptomics) and the underlying genetic code (genomics).
Metabolomics
Every cell in your body is like a tiny factory, constantly breaking down nutrients for energy and building new molecules. These processes produce small molecules called metabolites, and studying them is the focus of metabolomics. Changes in your metabolome can signal the onset of disease before symptoms even show up, making it a powerful tool for early detection. These metabolic shifts are often a downstream consequence of altered protein activity.
Doctors already track certain metabolites, like glucose, to monitor diabetes. But research is revealing thousands more that could serve as biomarkers for disease. For example, changes in brain metabolite levels might reflect oxidative stress or inflammation, two processes linked with conditions like Parkinson’s disease.
Phenomics
Phenomics brings all of this information together by studying the observable characteristics that result from the interaction of your genes, proteins, chemical environment, and lifestyle. This might include simple metrics like height and blood pressure, or more complex traits like cognitive decline or response to a medication. Phenomics helps researchers understand how different biological systems influence health outcomes from person to person.
By combining phenomics with genomics and other -omics, researchers can form a more complete picture of how diseases develop and how to prevent them from taking root. It allows us to connect the dots between the microscopic world of molecules and the macroscopic world of observable health.
Putting the -omics Puzzle Together
Understanding human health means looking at all the layers that make us who we are. Each -omics field offers a unique snapshot – think of them as different pieces of a complex puzzle: your DNA (the foundational blueprint), RNA (the active instructions), proteins (the workhorses), metabolites (the signals and byproducts), and visible traits (the outward manifestation). When scientists put these puzzle pieces together, they can begin to predict disease before symptoms appear, personalize treatments, and create interventions based on your unique biology.
Genomic research is a foundational piece of HudsonAlpha’s work. We use this data to uncover the DNA changes that may contribute to complex conditions, including neurodegenerative diseases like Alzheimer’s and Parkinson’s. But to truly understand how these changes play out in people’s day-to-day lives, we need a way to link what’s happening at the molecular level with changes in how people think, move, and function over time.
That’s where phenomics comes into play. HudsonAlpha and collaborators are working together on a pilot study called HOPE AD (Healthy Outcomes through Phenomic Explorations for Alzheimer’s Disease), aimed at tracking physical and cognitive traits alongside genetic and molecular data to see how they work together to influence brain health. By capturing detailed information on how people change as they age, scientists can identify patterns that may predict the onset of neurological conditions before they become debilitating. Phenomics brings all the other -omics fields into real-world focus, helping us ask not just what’s happening in your cells, but what it means for your life and your future health.
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