Department of Biomedical Informatics

What is Genomics?

Written by Kara Mason | August 30, 2023

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.”