I am a very self-reflective person. I always love to check in on my growth and evaluate my progress. As my 6 month tenure in my current position is approaching, I have been reflecting on how much I have learned from this experience. I have gained so much insight into medicine, not only the scientific information, but gained a holistic understanding of the business and industry of medicine too! This has helped me expand my plans for my career in the future, but also greatly improved in my skills in my current position.
Specifically in regards to genetics, however, my breadth of knowledge has expanded exponentially. I have learned so much, and am eager to use and share this knowledge, so I think I’ll share a few fun facts with you:
1. Hereditary cancers, those with identified mutations, make up for 5-10% of all cancers.
2. So far, we know of about 26 different genes associated with these cancer syndromes. Some you may have heard of before are BRCA1 and BRCA2 related to Hereditary Breast and Ovarian Cancer, and less well known is Lynch Syndrome, associated with mutations in the MLH1, MSH2, MSH6, PMS2 or EPCAM genes – these genes are responsible for many cancers involved in the gastrointestinal system such as colon and pancreatic cancers.
3. Other genes, with detrimental impacts on health, are the PTEN gene associated with Cowden Syndrome, and the CDH1 gene associated with Hereditary Diffuse Gastric Syndrome, a dangerous syndrome causing stomach cancers.
3. There are several ways to identify these mutations in patients. Traditionally, genetic professionals would test individuals for one or two genes at a time, looking for the most likely candidate gene. Most recently, panel testing technology has been developed to test multiple genes at one time, “casting a wide net” to “catch” the right gene. This, in my experience at work, has identified many genes that may not have been expected, or would not have been identified by testing for one gene at a time, however in many cases it is more appropriate to use single gene testing. This should be determined by the patient and credentialed health provider.
Many people ask why would we even want to identify these genes? What is the point?
Well, when someone carries one of these genes, they can have as high as an 87% chance of developing one of the associated cancers over their lifetime. In most cases, there are screening programs, chemopreventives, and surgeries available to eliminate or drastically reduce the risks for these individuals. So the short and sweet answer to this question is that we can stop cancer before it starts for these folks. I think that’s pretty incredible.
I can’t wait to share more on this subject, to work to bring awareness to cancer prevention, and to help patients seeking proactive approaches to their health.
Resources for learning more about genetics are:
Genetics Home Reference www.ghr.nlm.nih.gov/
The National Society of Genetic Counselors http://www.nsgc.org
NCI’s Cancer Genetics Division http://www.cancer.gov/cancertopics/genetics
and of course speaking with your medical professionals about your risks, particularly if you have family members who have been affected by cancer.
Please feel free to comment with additional questions or topics of interest!