In 2008, while spending week four in a hospital bed recovering from a later stage colorectal cancer surgery and another subsequent surgery to resolve complications, I found myself suddenly realizing the seriousness of the family legacy of Lynch syndrome.
Awakening in ICU, I found myself trapped inside of my body, requiring assisted breathing, unable to speak, unable to think and questioning whether or not I would survive. Repeatedly, my mind reiterated one sentence, “Go to a safe place.”
A vision came-a beautiful spot of land on our ranch, where I had always felt at peace and there was a sudden solace. Occasionally, a fleeting thought would appear, then disappear. It was as though the mind was preset for survival mode. All it wished me to do was close my eyes and allow my body to recover. It was as though it was guiding me to relax and rest.
Our families with Lynch syndrome have to constantly remind ourselves, repeatedly, to relax and place our trust into our physicians and those who care for us. We have to remain calm and in control, so our children will have the strength to genetically test. We have to repeatedly remind everyone in the family that genetic testing is a gift. We have to be able to trust those who test us and those who care for us.
For years, my physicians were advised of our family history of cancer. We knew something was terribly wrong in our family. “Pretty horrific,” it was described by one of my current physicians, though is basically much the same as some and better than the thousands of other families we have encountered during our journey here at Lynch Syndrome International. Instead of testing me genetically, my physician determined I should have a colonoscopy every five years, obstensibly to save money. I remember being desperate to get a genetic test AND a colonoscopy and how terribly demeaning it was to have to beg…all I wanted was for it to be over…to know. I remember the moment I realized how important those initial steps were. I remember the feelings of betrayal, the devastation of the loss of trust and I remember preparing for the fight of my life, as a result.
Five years and nine months from the last colonoscopy, the results finally came in. I wasn't surprised but like most others felt overwhelmed and desperate. Three tumors...metastases and 38% chance of survival. But I finally knew what killed my family and realized the only person, at that time, who hadn't been affected with a cancer, in our generation or my father's generation was my sister.
After surgery and then going through chemo, I had to see a genetic counselor. The wait was forever. In fact, by the end of the eight months when chemo was finished, I finally got to see one and then wait another five weeks for results. The wait was agonizing and, by then, I pretty much knew everthing I needed to know. I remember the tedious task of going through chemo and fighting the effects of chemobrain, working word by word, one paragraph at a time, with a medical dictionary, translating the studies into layman language.
On the internet, there was nothing in the way of information for patients online and there were no patients anywhere. We didn’t know if anyone even existed or lived through a Lynch syndrome cancer. This was especially true as my physician, my gynecologist, my gastro doc and my oncologist, and everyone in their departments had never heard of anyone with Lynch syndrome, though they served over a population of a million people. By the time I was genetically tested, I was able to educate my physicians about Lynch syndrome. The counseling session was a nice gesture and the counselor was great, though due to circumstance, there was nothing we learned which we hadn’t found online.
On the other hand, my daughter, who knew everything about Lynch syndrome and could probably teach her genetic counselor, found her session invaluable as she feared discrimination. She didn't want to go to an appointment with a GC. She didn't want to know. She needed time and encouragement from her doctor. He encouraged her to test and the information received from the GC brought forward facts which motivated her take control of herself and her potential mutation.
Each of us has our stories, our fears and our dreams. And each of us have hope that there will be change…positive change which will alleviate all the generalized perceptions, assist physicians in being knowledgable about Lynch syndrome, insure families we aren’t any different than others, with the exception that one of the thousands of genes in our bodies is defective—that we don’t need to fear discrimination or feel alone, during the process of finding our genetic test is positive and during our lives.
We see Lynch syndrome through the eyes of many...but the bottom line is what is best, is what is best for the patient, not what is best for the genetic community, the medical community, the commercial genetic counseling company and the insurance companies. Our goal is to educate the public about Lynch syndrome, educate medical professionals about Lynch syndrome, provide support for those with Lynch syndrome and support genetic research for Lynch syndrome.
We receive the telephone calls from those who are frightened, uncertain and who need to know what they may be facing in the future. The majority have late staged cancers as a result of physicians not taking family histories. Those involved in Lynch families, ordinarily don’t call. They want to speak to someone who has experienced Lynch syndrome to know what it would be like to live with it. They are distressed about their children and genetical counselors' refusal to consider future testing for them. They want assurances they can live, advice on how to eat, how to sleep, how to cope, how to adjust to a totally new life. They live with the reality of Lynch syndrome.
We spend hours speaking with those who are affected, listening and discussing anything and everything they may wish to know. The calls come in the mornings, during the weekends, at night. They come whenever people are distressed. We share our lives and our families with them…together, we are one, as pioneers in the age of genetics.
We work closely with many genetic counselors, mostly those who work within community settings, at local hospitals, in the offices of physicians, clinics, and medium sized institutional settings. They are the ones who are in the trenches, who are diagnosing our patients and providing ongoing support. They are carrying the load and doing wonderful things for us. We refer individuals to genetic counselors across the country and find their services incredibly invaluable. We have found many of those counselors agree not ALL people should be required to attend a genetic counseling session prior to being afforded a potentially lifesaving test. We advocate for genetic counseling and find it to be a beneficial service.
In some organizations, we have seen access to genetic counseling take as long as three to six agonizing months, with the average dependent upon the region where the testing is conducted. The average is eight to twelve days to obtain an appointment. This is because there are not enough genetic counselors to carry the load. It can be a long time, and a matter of life or death, when one is awaiting a surgery. The expedient diagnosis is essential as to make a critical, life affecting decision as to whether or not to take a foot or five feet of colon from one’s body or whether to give up the opportunity to have a child and have female organs removed at the same time as colectomy. Lynch syndrome cancers can metastasize during that time. As counselors go through test by test to save money, usually in institutions, patients are seen as "subjects" and wait in fear. In situations we've seen, such as this, there is little respect for those with the Lynch syndrome, however it is considered a good way to "save money" and not have to perform full sequencing to find the gene.
Yesterday, a press release was made which stated Cigna Health Insurance was mandating all individuals at high risk for hereditary breast and colorectal cancer, and Long QT syndromes obtain genetic counseling through their telephonic genetic counseling service partners, InformedDNA. No other genetic conditions of the hundreds in existence were targeted. My heart sank. For some reason, our syndrome was singled out. It didn't feel right and it didn't feel good. It made me and members of our family feel "different."
It wasn’t the first time events occurred in which perceived discrimination was expressed against those with genetic conditions. The first was at a genetic conference, whereupon we sat in a room with thousands of genetic professionals and listened to James Watson refer to “mutants” who were “genetic losers.” Mutants is a common term used by researchers in addressing us. It is not a nice word. Mutated gene is not a nice term but is a common phrase. We prefer to use defective.
We listened to gasps of shock from some and the laughter of others as it slammed right at the center of our entire being. It was amazing to see the callousness of genetic professionals. We chalked it up to Watson’s flambuoyant manner of speaking and made a mental note. It was the first form of discrimination experienced and it came from the genetics community.
Another incident occurred during a passionate discussion with a medical professional who flatly stated, “We have to sacrifice some in order to save the masses.” It was in relationship to universal use of FIT (fecal testing for colorectal cancers) and claiming inability to take family histories to determine if the FIT test was the right test, due to cost. We had seen callousness and refusal to test our families from physicians, but never anything this blatant.
It occurred last Spring when NCCN reduced the screening tests for our families and the U.S. Preventative Task Force determined testing, counseling and treatment for hereditary breast cancer and ovarian cancer genes would be considered preventative care and Lynch syndrome was ignored. We were there while the primarily genetics individuals developed and reduced the barest minimum of standard of care. Only one of the dozens spoke with us. They didn't care what patients experienced or thought. And, we were the red headed step children who were treatedly disparately and ignored, even by the federal government, while our families died.
A few months ago, we observed upon the internet, a loose group of genetic counselors organizing into a their own organization and developing a database whereupon they were taking ALL the records from their hospitals and putting them into a database upon the University of Michigan website. Individuals with no medical degree and a masters in genetics, without permission of patients are collecting patient records...and that same sick sinking feeling occurred.
I felt that same feeling yesterday upon reading the Sacramento Bee article which addressed the press release of InformedDNA which announced their partner, Cigna Health Insurance Company, is mandating genetic counseling targeting the three syndromes, without consideration of the family situation, the economic situation, the emotional effect of being treated differently, etc. This occurred with no advance discussion with those affected…no sensitivity toward them and even with an intent for them to pick up the bill of their reasoning…because they feel doctors are not doing the job correctly. The reason was cited it was because were doing the "wrong test."
Someone has to pay for this program of Cigna's, developed to save costs so they can use lessor expensive tests----so it falls upon our families, who also have to pay more for colonoscopies, since our screenings are not covered as preventative under the ACA and the USPTF, though the hereditary breast and ovarian cancer syndromes are.
But what about the rights and the feelings of the patients? Where is our right to privacy? Where is our right of choice...take the test and submit to telephonic counseling or take the risk of dying? Its clear the arrogance of the some in the genetic community is bordering on disrespect toward patients and is obviously engaged in severe ethical issues.
The question is, if the problem is medical physicians not ordering the right test, then, why aren't the genetic professionals leaving their desks and educating medical professionals how to test? That is their job. Some major institutions have as many as eight to eleven genetic counselors in one facility...and only an average of ten annual diagnoses of Lynch syndrome...about one apiece per year. We have seen it occur in major cancer centers. Why not get the genetic counselors out of their desks and into hospital lobbies educating the public, into the community and out on the floors, educating the doctors? Why aren't they performing triage in gastroenterology clinics? Why are they making patients, whose entire families are affected by cancer, go through hoops so the genetic professionals can make money and the insurance companies can save money? Something is terribly broken here and Lynch syndrome is the genetic community's and the medical community's worst failure. Everyone begs for a cure for cancer...and we have the closest thing to it and they don't seem to want it. If its not about saving lives, or preventing cancers, then it has to be about the money derived from the multi billion dollar industry of cancer.
For those family members who have a family history of Lynch syndrome and who are familiar with the risks of genetic counseling, counseling is often unncessary. The test is reasonable, for family members of those with Lynch syndrome...under $450 per test. Genetic counseling doubles the cost. It increases the cost of the co-pay of the test for the patient and imposes further costs upon the patient, including cost of daycare, travel costs and three days loss of wages to receive on test. Taking all this into consideration, on average, the cost for the individual would be as much s three hundred times more than the cost of the test.
In 2010, this ame discussion was held with a genetic counselor who worked for a commercial testing company which works with Cigna. She insisted ALL persons should undergo genetic counseling. We discussed the burden of taking off work for an additional two days and how families couldn’t afford it…she didn’t care about that or the minimum wage earner. That lead into a further discussion with a leader of the NSGC, who was upset with the above conversation. We explained to her how when someone grows up in a Lynch syndrome family, they know what is going to be presented to them and most feel genetic counseling is a waste of time. The younger ones at risk are not genetically testing because they don't wish to attend genetic counseling, rather than having to jump through the hoops of taking time off work, which most can't afford and spending three days to get a lab test. She felt everyone should go through genetic counseling. We understand. It is her livelihood and she represented the livelihoods of other genetic counselors.
We believe it should be a choice and we believe some people are not listening to the voice of the patient and really don’t care what they think. We believe medicine should take care of the patient and keep in mind what is best for the patient is best. It should be the priority in any health care setting.
With Cigna’s plan, if a patient has a policy that requires a co-pay, the patient will be required to pay the co-pay and increased costs for the patient. In short, the patient will have to pay for the lack of accountability of the professional organizations, the genetic counselors and the insurance companies in educating physicians.
Cigna advised, within their policy, there will be a choice of face to face consultation or consultation over the telephone, offered the patient. This is discrepant with the statement from InformedDNA, upon our website stating if one didn't already have a relationship with a genetic counseling provider, they would receive telephonic services. Cigna stated they had not determined a preferred provider, as of yet. A Cigna executive was asked about what they would do with the Next Generation panels of testing which are currently hitting the market and which would alleviate the need to determine “the right test.” No mistakes can be made with them. Following hesitation, it was stated it was something to consider.
Lack of attendance at mandatory sessions with genetic counselors, in order to get testing, is a major problem. It was exemplified in a study which indicated 29% to 36% of patients didn’t attend genetic counseling. http://www.cancernetwork.com/colorectal-cancer/content/article/10165/2131089 To make it mandatory only creates another barrier, especially when there is also an increased cost associated with the mandatory policy.
When it comes to neglected diseases which are grossly underdiagnosed, such as Lynch syndrome, there is room for everyone. The first priority is to get the person tested, especially if the person is pending a cancer diagnosis. That is not being done and this policy will have no effect upon that immediate problem, certainly not by the genetics professionals, who by inaction are letting the patients down.
There are thousands of physicians, who are educated, doing an excellent job of diagnosing patients. Today, more individuals are being diagnosed by community physicians, physicians assistants, nurses and community genetic counselors than by any other organization, including major cancer centers. Individual practices of physicians are diagnosing as many people annually, with Lynch syndrome, than entire cancer centers.
The key to survival is to leave many options open. People feel comfortable when they have choices. They feel comfortable when sensitive matters, involving family and health, are maintained on a community level, with people they know and people they trust.
Clearly, InformedDNA knows genetics and Cigna knows health insurance provision, but they don’t know people and especially people with Lynch syndrome. If they did, they would have been more sensitive and worked with those who have the actual ground experience with those with hereditary conditions to develop a program which is of benefit to the patient, not to the genetic counseling commercial corporation and the health insurance company.
We wish Cigna would stand up and say, "For our patients who may be at high risk for hereditary cancers or genetic conditions, we are now furnishing the services of voluntary genetic counseling, which we highly recommend and feel may be beneficial for you. This can be obtained through our health care offices, our great network of physicians or for your convenience, telephonic counseling. " We wish they would offer a choice, rather than simply target conditions, treat patients as a different class of people and dictate with a heavy hand.
One thing derived from this is there has been communication established with the insurance company and that is a positive thing. Hopefully, we won't continue to be on the opposite polarities in the future and we can have a meaningful dialogue of what is best for the families affected by Lynch syndrome and know our sole interest is for your families and the patients. We are not motivated by profit or anything else.
As for the “for profit” genetic testing corporation, InformedDNA's mission is different than ours. They are a "for profit" corporation without the passion we, the patients, the physicians, the nurses, the physician assistants and the genetic counselors in the trenches feel for the syndrome. They don't see or meet us personally. They don't see our families. They don't know us as people, only voices. They are motivated by money. They don't educate the public, or participate with or become involved in a personal relationship with patients. They sit on phones and shuffle paper. They don't look into our eyes, see the fear or the tears, or even see the faces of those affected. They don't reach out to us or, for that matter, even return telephone calls. They are a simple solution for a quick fix for genetic counseling, but they are not there to provide the crisis intervention of personal interaction often required in a follow up visit. They are simply nothing more than a cold, impersonal process and a hoop to jump through to get a life saving test to save our families.
Nonetheless, despite our claims that they don't talk or listen to patients, InformedDNA has reached out and written a post on our FACEBOOK page and reinforced what THEY feel is best for our families on our FACEBOOK page. It is telling, especially in the cold, esoteric manner in which it is written. This was after they were unreceptive to us the evening before, and even laughed and hung up the phone when we advised we and others affected by Lynch syndrome felt a form of discrimination from the mandated targeting and disparate treatment we have received historically (evidenced by their FACEBOOK site which primarily had ALL posts on BRCA testing and nothing about Lynch syndrome.)
Hopefully, at some point, they will be able to look at individuals with Lynch syndrome through another perspective, as human beings and people. If they ever do, it may be the first chink of tearing down the shrouds of paternalism and the first seed of compassion. If not, they can laugh even harder as we take on this problem and challenges in different arenas. That would be a good start.