Genetics, genomics and biomarkers…oh my!


Lindsay Ray blog image

I sat in on a session about genetics and biomarkers at the annual Oncology Nursing Society Congress in April. After the session was over, the nurse next to me turned and said, "This is the future." And that really was my feeling as well. What can sound like a lot of scientific jargon is actually really important to understanding how not only cancer works but also how our bodies function.We have come a long way in our understanding of the inner workings of cells. April 14 was the tenth anniversary of completing the map of the human genome. With that basic road map, we've been able to ramp up research efforts into genetics and genomics. In 2009, there were about 285 genome-wide association studies; recently, there were more than 7,000. But what exactly are genetics and genomics? And what do they mean for cancer patients?DNA contains all of our genes. The genome then is the entirety of that genetic information. Let's think of DNA as a book. The genome would be like the table of contents telling you what's in the book. And each gene would be like a chapter, complete with its own more detailed information. Genetics is the study of a single gene. It would be like intensely studying a chapter in the book.Genomics is the study of several genes. So you'd look at multiple chapters in the book and see how they can improve your knowledge overall and relative to each other. There are ways that researchers can drill down even further and look at much more detailed genetic information as well. But while we have this book and table of contents, this wonderful resource of information, we still can't read all of it. Better understanding this information is what drives research.In cancer research, scientists are mostly concerned with genetic mutations. The gene's purpose is often to produce necessary proteins. When a mutation occurs, and there are many kinds of mutations, the cell can no longer produce these proteins correctly. Genetic mutations can either be hereditary and passed on from family member to family member, or they can develop after we're born and as we grow older, changes called somatic mutations.This is where biomarkers come in. A biomarker is any sort of biological molecule that can provide us with certain information about diseases and treatments. It can be found in the blood or tissue, for example, and it can even be a change in a gene. Some of the main uses for biomarkers in cancer help us try to find cancer early (screening), determine how treatable or "bad" a cancer is (prognosis), figure out if a treatment will work for a particular patient (predicting) or see if a treatment is working (monitoring).For example, two of the most well-known genetic biomarkers are in breast cancer--the BRCA1 and BRCA2 gene mutations. These genes give us prognosis information--women with these mutations are at an increased risk of ovarian and breast cancers.An example of a biomarker that tells us slightly different information is the epidermal growth factor receptor (EGFR) in lung cancer. Some mutations to this receptor might mean that the tumor will respond well to certain tyrosine kinase inhibitors, whereas another mutation in the same receptor means that the tumor might actually resist these types of drugs.These are only a few examples of the types of biomarkers for cancer, and this information only scratches the surface of what we're learning from genetics, genomics and biomarkers. As research moves forward, we get a little bit closer to reading more and more of our genetic material and understanding its implications in terms of better outcomes for cancer patients.

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