You’ve probably heard of genetic testing for cancer susceptibility, but the more recent and broader field of genomics is also having a wide-reaching impact on personalizing patient care.
To start with the more familiar term, genetics is the study of single genes and their effects. For example, certain inherited mutations in the BRCA1 or BRCA2 genes greatly increase a woman’s risk of breast and ovarian cancer. Awareness of these genes has recently been increased as a result of the attention brought to them by Angelina Jolie and the difficult decisions she faced. Mutations in these genes can be passed down through either the mother’s or the father’s side of the family. If a woman tests positive for a BRCA mutation, there are steps that she can take to reduce her cancer risk or to detect cancer at an early stage.
Genomics generally refers to the study of the study of the entire genome (all of the DNA in an organism). Genomics can consider multiple genes and how they interact with each other and the environment to affect health. Examples of genomic tests are the Oncotype DX test which is now available for use in breast, colon and prostate cancer. The Oncotype DX tests evaluate the activity of several genes in a sample of tumor tissue in order to assess the likelihood of cancer recurrence. This information about recurrence risk is then available to help patients make decisions about their treatment in consultation with their doctor. Oncotype DX can help many patients avoid receiving chemotherapy unnecessarily, or provide confidence that chemotherapy is the best treatment option.
Similarly, research that combines genomics with pharmacology (pharmacogenomics) is studying how genetic variation affects an individual’s response to particular medications. Variability in genes involved with drug metabolism can have a substantial effect on drug response and drug side effects. Progress in this area is likely to contribute to more individualized, more effective, and less toxic drug treatments.
In short, research in genomics is expanding at a rapid rate and will have a profound effect on many aspects of disease prevention, diagnosis, and treatment. Diseases such as cancer are remarkably complex; genomics provides researchers and physicians with tools to explore and address these complexities.
Learn more about the role of Genomic testing:
- Breast Cancer
- Colon Cancer
- Early Stage Prostate Cancer
The study of genes and proteins can help us understand our risks for various cancers, choose the best treatments when a diagnosis is made, and take preventive steps against disease types for which we may be at high risk.