Genetics and Cancer

One of the classes that I had to take in the last couple years was Cancer Genetics. If I remember nothing else from that class I will remember that all cancer is genetic. Not all cancer is hereditary, but because cancer always in some way or another changes the genetic makeup of a cell, cancer itself is genetic. Perhaps that is one thing that has spurred the research and investigation into how increased knowledge of genetics and hereditary syndromes can change the way we look at cancer and cancer treatments.

When I started in oncology nursing, no one ever talked about the genetic portion of cancer. And certainly no one looked at much about hereditary cancer syndromes. People knew that some cancers, such as breast and colon, had a genetic or hereditary component, but it wasn’t some thing the patients or practitioners spent a lot of time discussing. Obviously that has changed. With improvements in technology and the ability to look at genes more closely, as well as improved knowledge of genetics, we have been able to identify small mutations in genes that are present, if not, perhaps cause certain cancers.

Recently, I have been studying endocrine cancers more in depth. I was amazed that almost every one of the cancers I am studying—including thyroid, parathyroid, pituitary, and adrenal cancers—have been able to identify some sort of genetic mutation that is present in the majority of patients with these cancers. Some show the mutation only in the cancer cells and some show the mutation throughout the body, which would then indicate a greater opportunity for that cancer to have a hereditary component. To be able to take a cancer, pull out one cell of the cancer, isolate the genetic makeup of that cell, identify each gene and chromosome and find mutations from the norm is a technological phenomena that we could never have even imagined in the recent past. To be able to identify a single mutation—whether that is a translocation, or exemption or other mutation—just amazes me.

So now that we can identify all of this, what do we do with it? How has it affected identification of risk, more definite diagnosis or changes in treatment and outcomes? And how is this information made clear to the general public.

Many advances have been made in identifying risk for a variety of cancers as well and directing diagnosis and treatment for a variety of cancers based on a person’s genetic make-up. We have the ability, in many cases, to identify those mutations and have a better idea of what we are dealing with. But we still have a lot to learn and a ways to go. Even with all of the places that now provide genetic testing, there are not easy readily available tests for many of the mutations of which we are aware. And even with the tests that are readily available and very accurate, insurance does not always cover the cost that, for some, is insurmountable. Then what do we do with the information once we know it? Once someone is identified as having a genetic mutation that puts them at a higher risk for a particular type of cancer, what is done with that information? Do we encourage certain procedures and treatments? Do we watch and wait? Genetic counselors are the experts in this area. I’ve worked with some of the best who act very responsibly and help the patient to look at every option.

There is also the availability of that information to others. It’s not a secret that employers and insurers would very much like to know if someone is at a greater risk for certain cancers based on their genetic makeup. So now that we identify it, are those people at risk for discrimination? At one time, that was exactly the case. But on May 21 of 2008, President Bush signed into law the Genetic Information Nondiscrimination Act, commonly known as GINA. This law protects patients who have identified genetic mutations from discrimination by employers and insurers. It’s not without some flaws though and those things will play out as we go further. Although insurance companies are not allowed to not insure someone based on this information, the law does not indicate at what cost that insurance will come. Can greater insurmountable insurance premiums be charged to these people, only time will tell how that plays out.

As technology allows us to advance healthcare, it will also bring many questions up that we never even thought about. It’s a new era that only ends as far as someone’s imagination can take them.

For more information on the GINA law go to http://www.genome.gov/24519851. And a great site to learn more about genetics and cancer is AcrossExcellence.org.