14 years ago, through genetic testing several members of my family learned that we carry a gene mutation that causes Hereditary Non-Polyposis Colon Cancer or HNPCC and gives us an 80% chance of getting Colon Cancer as well as a high risk for getting other cancers, including skin, stomach, renal, ovarian and uterine cancers. We learned early enough that we were designed to die from colon cancer, but more importantly we learned about the screening techniques that could prevent the disease and extend our lives.
In just four generations, genomics has contributed to the transformation of my family members from cancer death at age 40, to two generations of trying to survive this terrible disease, and finally to a generation of cancer prevention fighting we hope to win. Quite simply genomics and genetic testing are one of the tools that has saved or at least significantly extended my life. And this tool can help manage conditions that many families are facing, but it is a tool that is extremely complex. This tool requires a tremendous amount of information to understand while generating even more data during the course of a patient’s journey with managing their genetic condition. Families must be supported in this process, and it falls on healthcare providers like physicians and nurses to help to fill the gaps that are developing in the health care system.
The hardest part about genetic conditions is that they are extremely rare conditions, and our understanding of them is just emerging. One in 740 people carry the HNPCC gene mutation that I carry. That means that most doctors and most nurses will not see an HNPCC patient and will not know how to deal with one.
That fact has a profound impact on the way that care and information is delivered to consumers. Both of my long term doctors know little about my condition, and these are doctors work at Harvard affiliated institutions. I proscribe my screening regimen and my primary care physician orders it. My doctors ask me about the advances that are being made in genetics and colon cancer screening, not the other way around. Until recently, the only people that I have found that know much about my condition are the genetics specialists at the National Cancer Institute and at the MD Anderson Cancer Center and a few other people. I was forced to seek out other alternatives to my physicians to be informed about my condition. The way I have learned about genetics, genetic screening and managing my condition is through the internet and the doctors and nurses at the NCI.
I was fortunate to be tested within a clinical trial setting with genetic counselors from NCI. Not everyone has access to the NCI, and many patients have doctors that don’t know how to help them when it comes to genetics. I believe that genetic counseling and genetic information are crucially important to patients. I hope that nurses and physicians can help bridge the gap of information that exists. Or at least help patients find credible sources of information.
Last year the Dana Farber Institute started a cancer prevention clinic that is staffed with doctors, nurses and other clinicians who understand both cancer genetics as well as the suggested prevention guidance. For the first time since being identified as a genetic carrier, I have a doctor that defines my prevention approaches. I’ve added a semi-annual skin check up to my prevention regimen. It’s a large relief to have someone more skilled than I worry about my cancer prevention.
I find that some of the best information for patients is provided by the companies and, especially, the support organizations that specialize in this area. This information is much better information than the information provided by the general healthcare delivery process. This area of distributing new genetic information is a difficult one, but it is important to understand the limitations of general practitioners to deliver the information. Patients that are concerned in the area of genetics are going to have to manage their healthcare and seek out information on their own.
When I found out that I carried a colon cancer gene, I reached out to find any resources that I could to understand my condition and to understand colon cancer, the disease that I was destined to get. In my search I found little about my condition, a situation that is now drastically different, but I did find a colon cancer support group. This internet support group on ACOR.org, called the Colon Cancer List, provided me the support to better understand the terrible nature of colon cancer.
Along with a dedicated group of listserv members, we found that there was no patient group representing the voice of colon cancer patients, so we set out to form a patient advocacy group to support patients and their families, while advocating and communicating about the importance of colon cancer screening. I was given information to extend my life, and I have found a lot of fulfillment in trying to inform others of this special gift of knowledge. I hope that in helping to found and grow the Colon Cancer Alliance, that I have been able to give back some of this special gift to others.
In my volunteer work at the Colon Cancer Alliance, I have realized another aspect of my orphan condition. In the case of HNPCC, more people ask about and get tested for HNPCC than have the disease. This amplification of the necessary services provided places even more burden on the health care system stretched to provide treatment. What if orphan conditions are most of the genetic conditions? There will be an increasing number of genetic conditions, and the magnitude of the services required is only starting to be understood. Maybe, every patient is going to need to be somewhat of an expert on their own genetics.
In order for consumers to fully realize the potential of genetics, we still have issues to solve in terms of eliminating the consumer fear in using these tools. Genetics offers to us knowledge about our destiny and gives us an opportunity to reshape that destiny. At the same time this personal information can and will be used in a way to discriminate against the affected individual. The key for consumers is to be able receive genetic testing without the threat of discrimination in critical areas like employment that affect an individual’s livelihood.
While I see a possible threat to consumers with genetic information, I have not seen any discrimination in reality, and I believe that the advantages of learning about your genetic makeup far outweigh the risks. In my case this information has extended my life. What else can you ask for from your medical system?
It’s important to remember that genetic testing is a very personal issue. I didn’t share my results with my doctors for several years after my tests. I don’t know why I did this but I felt more comfortable this way. What I believe is that it is the patient’s right to know genetic information and to make decisions about whether or not to get tested. As much information as possible should be provided to the patient, but ultimately the decision to test is a very personal decision that some people feel more comfortable making on their own.
In this context, physicians and nurses can easily fill the gap in the ability of the health care system to deliver solid genetic care, but an investment in training will be the only way to keep up with all of the information that will develop in this field.
Getting back to my future with a genetic condition, I know that I will have to get a colonoscopy every year for the foreseeable future. I also know that I will have to continue to learn about my condition so that I can continue to beat. I imagine that some day a blood test will come along, and I will participate in another clinical trial to help replace the colonoscopy.
And sometimes I wonder if I will get cancer anyway, hoping that if I do I will catch it early. Lastly, I hope that for my children that their experience trying to prevent cancer will be so much easier than mine. And just maybe there will be reproductive services that will help me keep from passing on my gene to my children. A blessing that I hope to see in my lifetime even if it is too late to help me.