What is Genomics?

Genes are at the center of nearly every human disease and symptom, and until the past few decades, medical researchers had a much narrower interpretation of the human body’s entire genetic makeup, also called the genome.

Now, the field of genomics is rapidly expanding, giving light to new discoveries and information that may help scientists learn more about human health and disease.

“The first human genome sequence became available 20 years ago, which has enabled the development of technologies for genome-wide association studies (GWAS) and more recently whole genome sequencing ” says Ivana Yang, PhD, professor in the Department of Biomedical Informatics (DBMI) at the University of Colorado School of Medicine. “Many studies over the past 10-15 years have allowed us to get to where we are today, creating genetic risk scores, which can give an individual an idea of how likely they are to develop a disease based on their genetics.”

While genomics is a quantitative field and requires expertise in biostatistics and bioinformatics, Yang, who is also vice chair for faculty equity and advancement in the department, says that collaboration with biologists and clinicians is critical to translating genomic findings to discoveries that affect patient care.

“The Personalized and Genomic Medicine Online Graduate Certificate Program through the Colorado Center for Personalized Medicine is a good place to start diving into genome studies in an inclusive environment,” Yang says. “We teach students a lot about the genome — and other ‘omes’ such as transcriptome and proteome — over the course of a year in this program. We want to bring genomics and personalized medicine to people who are interested.”

What is the difference between genetics and genomics?

Genetics and genomics are related fields and sometimes the terms are used interchangeably. Genetics is an older field that focuses on the role of genes in human traits and disease, including inheritance patterns. Genomics is a newer field enabled by the sequencing of the human genome in the early 2000s that allows us to study all genes — called the genome — simultaneously. Genomics has enabled us to do genetic studies on the genome scale.

What role does genomics play in medical research?

Genomics has played a critical role in the basic understanding of how the human genome functions. We once thought that most of our genome was “junk DNA” with no function and that only a small portion of the genome encoding protein-coding genes was functional. We now know that many genomic regions once considered “junk DNA” contain functional elements that regulate the expression of genes that are important for human health and can cause disease if dysregulated. These discoveries have given us a much more comprehensive view of the functional role of genetic variants in the human genome, beyond the protein-coding regions.

What kinds of information can genomics tell us about diseases and human health?

Genomics has given us a more comprehensive understanding of genetic risk factors for complex traits (body mass index, or BMI, for example) and diseases such as diabetes or asthma.

We can now calculate genetic risk scores, which are individual-level estimates of the cumulative contribution of genetic factors to a specific trait or disease. We can also use genomics for diagnostic purposes such as diagnosis of rare diseases and tumor sequencing. Another important field that has emerged is pharmacogenomics, or how genetic variants we carry affect our response to medications. All these examples illustrate the power of genomics as the basis of personalized or precision medicine.

What are some common tools researchers use in genomics?

Genomics researchers use relatively well-established microarray and next-generation sequencing-based technologies for data collection. Most challenges and innovations in this field exist in the analysis of genomic data. Many computational and statistical methods are used to analyze, visualize, and interpret genomic data. In general, we use both association studies to identify significant relationships between genetic variants and traits or disease, and predictive modeling to find the combination of genetic variants that best predicts current or future disease.

How does technology play a role in furthering genomics?

Next-generation sequencing technologies have enabled very rapid and cost-effective sequencing of thousands of individual genomes, compared to sequencing the first human genome 20 years ago, which cost nearly $3 billion and took many years to complete. Technologies continue to develop and enable new discoveries in genomics. Currently, cutting-edge technologies are those that provide sequencing at the single-cell level and those that provide spatial information on where that cell is in the tissue.