Ask a Researcher: What Is a Genome and How Does It Impact Your Health?

You may have seen or heard references to the human genome. But what is a genome, and why is knowing about it important to your health?

This question and others were answered during “Learning About Your Genomes,” a four-week Community Health Speaks series, held last October and November at the Delavan Grider Community Center and hosted by Jamal B. Williams, PhD, Assistant Professor, Department of Psychiatry, Jacobs School of Medicine and Biomedical Sciences, and UB Clinical and Translational Science Institute (CTSI) Board Member Jennifer A. Surtees, PhD, Co-director, Genome, Environment and Microbiome Community of Excellence, Professor, Department of Biochemistry, Jacobs School.

Recently, Williams discussed some of the information covered in the series, and why it is crucial for the community to better understand the human genome. (Learn more about Williams and the series in a November UBNow article.)

Tell us a bit about the human genome.
A genome is the full set of genes that make us who we are. This includes the 2% of genes that code for proteins — our building blocks of life — and the 98% called the non-coding genome. The non-coding genome is especially important for understanding our genetic makeup and informing our risk for disease.

How does our genome impact our health?
Our health can be influenced by our genomes. Sometimes, it is a big change in just one gene that can have an impact. However, most often, it is the small changes (variants) in many different genes that together have a significant effect. A group of variants can collectively put us at risk for a disease. These variants are likely very different across people from different backgrounds, which is why it is important to conduct research that involves people from all different ancestral backgrounds. Understanding the factors that put certain communities at risk for a disease can help in more accurate diagnoses and more specific treatments.

What types of research involve the human genome?
The human genome is related to all types of research involving people. The most common research approach is a genome-wide association study. This allows us to investigate binary traits (those that a person either has or does not have, like ADHD) or continuous traits (those that can be measured along a scale, such as blood pressure).

Why is it important to have diverse representation in genome research?
Genomic research heavily relies on computer science, where we expect models to make the decisions for us based on what we know. When our genomic datasets (collection of genomic data) do not include genomes from people from different backgrounds, we can only learn about people from the race, sex, age groups, and even social class represented in the data. This may lead us to make wrong conclusions for people who do not fall into these groups. If we want to be able to study genetic risk for all people, we need to make sure our datasets represent all people. And that representation is important when it comes to researchers, as well.

Looking at the series, why did you decide to organize it, and what impact are you hoping for?
We have good people here at UB who genuinely care about including all people in research and health equity in marginalized communities. However, many may find it difficult to participate, especially if investigators look different from the community they are trying to serve or research. Community Health Speaks provides an opportunity for UB folks to bring resources, information, and services to the East Side of Buffalo and strengthen the relationship between the community and the biomedical field here in Buffalo. We plan to offer the “Learning About Your Genome” series again in a similar format. We will include the feedback we received from attendees so we can make it more relevant to their interests.