Research profile – Decoding your health

Researchers at McMaster University are developing computer programs that can assess a person’s genetic and environmental risks of disease.

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Could a computer program use information about your genetic make-up, lifestyle and environmental influences to determine whether you will actually develop a specific disease you carry the gene for, and how well you would respond to treatments?

Researchers in Hamilton, Ontario, are working on an ambitious series of projects that aim to develop online methods and software that may help predict what a person’s health would be like under different situations, improve the accuracy of diagnosis, or show how an individual would react to specific drugs.

"Trying to tease out the contribution of both genetics and the environment is really what is at the core of my research," says Dr. Joseph Beyene. He is an associate professor of Clinical Epidemiology and Biostatistics at McMaster University.

While genes are an important part of what can cause disease, they are complex and don’t tell the whole story. Some people who carry a gene for disease never develop that disease, while others do. And for people who develop an inherited disease, some may develop a mild form of the illness, while others get a more severe form. There can also be differences in how well people respond to treatment, or whether they respond at all.

"Consider this example,” says Dr. Beyene. “Two children who are experiencing the same type of disease go to a doctor, and are prescribed the same standard medication. One responds to the medication, the other, unfortunately, develops an adverse outcome. Why is that?”

Dr. Beyene points out that you can’t just measure one, two, or three genes to determine a person’s risk for a disease. Genes work in very complex systems, affecting one another. Plus, what they do can change depending on external influences such as environmental triggers, diet and lifestyle.

To really understand the cause of disease and how to treat it, all these factors need to be taken into account. Dr. Beyene and his team are doing just that in their work on ‘integrated genomics’, projects in which researchers are developing new algorithms, and computational and statistical methods to help elucidate gene-environment interactions for a variety of diseases.

Part of what they are doing is creating software in which they can model different health scenarios. The model would use details of a person’s genome as well as data pertaining to their lifestyle and environment. For instance, some of the software tools would model how a specific individual with an inherited disease would respond to different medications.

Dr. Beyene’s projects focus on a variety of diseases, including pediatric cancer, juvenile arthritis, cardiovascular disease and Type 2 diabetes.

He works with a multidisciplinary team that includes experts in fields such as computer science, bioinformatics, basic science researchers and medical specialists.

Eventually, the software tools they develop will be available to researchers online, and for no charge.

“Two children who are experiencing the same type of disease go to a doctor, and are prescribed the same standard medication. One responds to the medication, the other, unfortunately, develops an adverse outcome. Why is that?”
– Dr. Joseph Beyene, McMaster University