Gene panels for Cancer Risk Assessment

When it comes to preventing, diagnosing, treating, and working toward curing cancer, any and all tools are worth exploring. Clinicians know that certain behaviors and lifestyles increase an individual’s risk of getting cancer, so much focus is on modifying those behaviors to reduce the risk. That’s why doctors advise a low-fat, Mediterranean-based diet, regular exercise and as much avoidance of cancer-causing substances as can be achieved. But some factors are simply unavoidable –the cancer risk that each of us is born with: our genes.


The latest tool mixes big data with science in a way that can identify an additional risk of cancer. Since the completion of the Human Genome project, which sequenced and mapped an entire set of human DNA, researchers have had the ability to identify abnormalities. Now, gene panels can reveal the makeup of a person’s chemical DNA and RNA as compared to known gene mutations that are associated with certain cancers…and they can be very valuable. They’ve allowed researchers to identify, for example, the BRCA 1 mutation carrier that can provide the option of taking preventive measures, as actress Angelina Jolie chose when she tested positive for the breast cancer indicator and opted for a mastectomy. But it is not nearly as simple as it sounds.


Genetic testing isn’t the sort of analysis that provides a definitive positive or negative result. It isn’t a straightforward blood test. The field is becoming more sophisticated all the time, as scientists are uncovering characteristics of certain genes faster than they can analyze them. In addition, the presence of some anomalies that could point to a certain cancer indicator may not be nearly as meaningful if that disease has not been present in the patient’s family history. Additionally, the complexity of a single-gene approach to identify markers of a specific condition is made much more intricate when a broad range of genes and next generation sequencing – a multiplex panel – comes into play.


There are very good reasons to consider genetic testing – and the education and genetic counseling that needs to accompany it. If a patient’s family history points to a predisposition for certain cancers, if the test is targeted and relevant, and if it’ll help diagnose or manage a patient’s condition, genetic testing makes sense to assess a cancer risk. But there are significant concerns and long-term implications for patients and their families to consider, especially if irreversible surgery is an option. Results of any test are only as significant as experts’ ability to interpret them – so talk with your health-care provider about the complete picture of your cancer risk before considering a path that isn’t nearly as clear-cut as it may seem.