Genetic Testing and Non-High Risk

A person can be considered medically high risk due to their or a family member's medical history. If you are considered medically as high risk, you get popped into the category of give them lots more medical attention and 'lovely' tests.

Now with the progress of genomic testing, its no longer a big expensive, rare proposition. However, why do we only test the high risk people? These are the people who already know they are high risk. But that leaves a lot of people who don't know they are high risk and could be. This doesn't make sense. Some new research asks if it wouldn't it make more sense to test more people who aren't necessarily considered high risk? That might be more practical and save lives.

"A study published in the Journal of the National Cancer Institute indicates that screening the general population for mutations in specific genes is a more cost-effective way to detect people at risk and prevents more breast and ovarian cancers compared to only screening patients with a personal or family history of these diseases.

Current guidelines recommend that only those with a personal or family history that could indicate a greater risk of developing cancer be tested for gene mutations that can cause the disease. However, the successful use of testing for high-risk groups has led many to consider extending genetic testing for cancer to the whole population."

As I said it does make a lot of sense to do this. You would find people who did not know they were high risk and help prevent many more cases of breast and ovarian cancer. 

Mutations that cause cancer can occur in many people with no history to indicate a risk. These people are therefore not included in screening programs that target high-risk patients and the mutations remain undetected. The researchers of the new study estimate that implementing a program to test all women over the age of 30 could result in thousands fewer cases of ovarian and breast cancer in women in the US and UK.

However my response to this idea is a big fat 'No'. Isn't it kind of 'big brother-ish'? Yes it is. I'm sorry, but I would not approve of their approach to testing all women over the age of 30. The researchers then suggest:

"Population testing for breast and ovarian cancer gene mutations is the most cost-effective strategy which can prevent these cancers in high risk women and save lives,” said the paper's lead researcher, Ranjit Manchanda. "Our findings support broadening genetic testing for breast and ovarian cancer genes across the entire population beyond just the current criteria based clinical approach...""

It may be cost effective but that is not a way to treat patients. We are not little cost effective units that can be modernized or tested to meet some kind of cost effective study. We are human beings and need to be treated as such.

Yes I agree that we are normally subject to requirements to be immunized for certain illnesses. But this is different. Part of the reason for immunizations are that they are to prevent contagious diseases that can be passed from person to person. They can cause epidemics that can kill multiple people and cost significant amounts in medical bills.

Ailments causes by genetic mutations are not contagious. They affect only one person at a time. A person's genetic traits are unique. They should be kept private. They do not belong in some database anywhere to follow people around.

This would result in discrimination and bias if known to potential employers, health insurance companies, and life insurance companies. Even if such discrimination was illegal it would still happen. So no way in my opinion.

Finally, what if patients do not want to be tested. Some people (myself included) would not want to know the results of such testing. This is why I will not go to a fortune teller or tarot card reading. I do not want to know. I have enough to worry about as it is.

Clearly this is a case of 'just because we can, doesn't mean we should'.

Genetic Testing

So if you have a family history of breast or ovarian cancer, there is a strong chance you have one of the two BRCA genes. And now if you have BRCA1, there is a significantly increased risk of uterine cancer - 22 times higher in a recent small study.

I read that and said 'wow!'. I am somewhat surprised this was never figured out before.

Earlier this week I was talking with a friend and she was tested for BRCA back in the early 2000's when the testing was just starting. She told me that the testing is now done differently as technology has changed. And the test now includes several other genes including ones for colon cancer. When I see my oncologist next month, I will ask about testing.

With my medical history I was previously tested for another gene and was told I didn't have it but probably another gene that hadn't yet been discovered. so maybe its time for another test.

Since I had gone through genetic testing once, I have gone through the thought process before, I have some experience. If you get tested for genes and find out you don't have it, you get to take a deep sigh of relief.

But if you do have the gene, I think its a bit challenging. First of all, where did you get the gene? You don't get to blame anyone so forget about that route. And you could have been the first with the mutation. And someone could have had the gene and not had any cancers. (Just because you have a gene it doesn't mean you will get cancer, it might just increase you cancer risk.)

Then once you get past that part, how do you tell people? Who do you tell? I thought about who I would tell and who needed to know and who would panic/overreact. My siblings obviously needed to know. One is married with children and they would need to be screened. And then and etc.

I think knowing that certain family members would overreact, well let me say I would expect and overreaction based on their previous reactions to other issues, did not fill me with warm fuzzies. Because of that, this is something I have rarely talked about it and never told family members (because it was negative). If I had the gene, it would have been another story.

Now that I am going to ask about testing, I might have to cope with that.... But I'll wait until then, and take a deep breath.

Genetic Testing Is Ahead of Treatment Options

Genetic testing has been researched like mad in recent years. Breast cancer genetic testing is no different than that the rest of genetic testing. But treatment options are not right up there with the testing results.

When this mother found out she had breast cancer she went for a lumpectomy to be followed by radiation and that would be it. But then she went back to her doctor to discuss radiation. More genetic testing had been done and she had inherited an alteration to a gene that is needed to repair DNA. And if radiation breaks DNA so it might be better for her to skip radiation and have a double mastectomy instead.

So she talked to a professor of genetics and medicine who said that information was wrong and she should be able to go ahead as originally planned. Then a group of doctors met and couldn't reach a consensus so they left the decision up to her on what to do.

I am so glad I am not in this woman's shoes. That would be a horrible decision to be forced to make. Which option would be better? Or which might lead her to a quicker death? I could not imagine the emotional stress.

And this shows a real problem that I had thought might be lurking in the background of progress. I have long been nervous iffy edgy unsure about the fast pace of research in some areas and the slower pace of advancements in other areas would be gaps that would leave the patient over a barrel so to speak. Some research takes longer than others to complete for a start and some times it takes longer to get to the starting point.

Perhaps we might need a bit more coordination here to lessen these gaps. But since we can't undo time, here lies the question: if research has lead us to the discovery of this new gene and how it might potentially impact a patient's tolerance of treatment, should the patient even be told about the gene? Since there is no research showing how it might or might not impact the success or risk of radiation treatment, how is a patient supposed to react?

I just think its blatantly unfair for a doctor to tell a patient that you have this gene that might or might not impact your course of treatment and we have no options to give you so you have to figure it out on your own. I would start by getting a new doctor who would provide guidance and reassurance to help make the patient feel confident that she is making a good decision.

Just because, doesn't mean 'right this second'

When you get medical, or any other kind of, bad news, the first reaction is "FIX IT NOW BEFORE I DIE!!!!". You then start making decisions as you learn about your choices. And proceed to get your life back.

But.... What if the news is wrong or has been misinterpreted? Then what?

This is especially true now with BRCA and other gene testing advances.

"In a paper published in the Journal of Clinical Oncology, the Peter Mac team has demonstrated that some genetic tests for breast cancer may be misinterpreted, potentially misinforming the affected families and risking unnecessary preventive treatments.

“It is now possible to screen a large number of genes at the same time – known as panel testing – at a fraction of the cost previously required to sequence just one cancer-causing gene such as BRCA1,” according to Professor Ian Campbell, Head of Peter Mac’s Genetic Cancer Research Laboratory.

“Understandably, this has increased demand for such tests amongst health care providers and patients concerned about their family history.

“However, while the increased risk of breast cancer associated with some genetic mutations is proven, for others there is a lack of robust scientific data to suggest preventative treatments are required.”"

There is a fair amount known about the BRCA genes and their impact on a patient for increased risk of breast cancer or other ailments. But not as much for the other genes. So you do not want to start making a lot of decisions right away. You do n't want to treat the information about other mutations the same as BRCA mutations. I guess the message is that you need to educate yourself on what you are being tested for before you make decisions

Who will pay for personalized medicine?

Inventors have faced this problem for centuries: just because you can make it, does it mean anyone will pay for it? And just because its possible, doesn't mean anyone wants it. Unless you can put some guarantee of a good result on it.

Personalized and precision medicine has been the buzz for several years now. But who is going to pay for it? I have never seen this discussed previously. I sort of assumed that someone would but never thought the process through. And what happens if the test result isn't a good one?

I just know I wouldn't be happy to shell out a few thousand without the guarantee that the results would lead me to a life saving recommendation. And what if I did spend the big bucks and all the result told me was that there were no good treatment protocols for me? That would not leave me a very happy camper at all.

Back to personalized medicine... What if no one wants to pay for it? And is there a guarantee that the test results would lead to the right treatment? What if there is no good treatment protocol available?

Right now we get an ailment and start a treatment protocol. If it doesn't work, we go on to plan B, or C, or D.... all the way to plan Z. Personalized medicine is supposed to tell us skip plan A and go directly to plan L as that is right for you. But what if there is no plan L yet? Or plan L only has a 50% chance of working for you? And plans A, B and C had a 30% chance of working for you.

One test for patients with a certain type of lung cancer has now been approved for payment by one insurance company. That's a very small start. Medicare has not decided if they will pay or not.

"Medicare and private insurers have been slow to embrace genetic tests such as Foundation Medicine’s that look at a broad array of genes. (Other genetic tests, such as those that analyze specific genes known to increase a person’s risk of cancer, are more widely covered.) The payers are concerned that the tests could lead to care that won’t improve patient outcomes."
I am right there with the insurance companies (how unlike me) on this one. I want a treatment that will improve my outcome... That's the whole point of personalized medicine.

More 'wonderful' news for me

I have to stop reading the news, damn it. I have tried to wean myself off the news, particularly medical news, Then I stop feeling educated and start feeling like a stupid patient. And if I stopped reading all news I could skip all elections and their related stupidity and inanity. But I haven't been able to stop, so I keep reading medical news and sometimes I find all sorts of stuff I may or may not want to know.

So today I have all sorts of  'great' news' I am not sure I wanted to know, well some I do like and some I don't.

First let's start off with the news that in view of huge increase in thyroid cancer diagnoses, new recommendations are that small papillary thyroid cancers be left alone and not treated.

"An increase in thyroid cancer diagnoses has led to unnecessary biopsies and surgeries. New guidelines from the American Thyroid Association endorse close observation as a possible treatment option for many small papillary thyroid tumors rather than surgery. The guidelines also caution against biopsies for many small tumors and say that when surgery is required, partial — not total — removal of the thyroid should be considered."

After a total thyroidectomy, the usual treatment for any thyroid cancer, the patient is left without a thyroid and requires lifetime follow up and medication. Thyroid cancer is slow growing and some unlikely to ever cause problems for the patient. This isn't that bad and it does show more progress in thyroid cancer treatment - instead of the usual 'one size fits all' approach.

Second, patients who are diagnosed with thyroid cancer and breast cancer are tested for Cowden's syndrome, a genetic trait which is characterized by the diagnosis of several cancers.

"Approximately 1 in 200,000 people are affected by Cowden disease and those who have the disorder have about an 85% lifetime risk for breast cancer and a 35% lifetime risk for epithelial thyroid cancer. Cowden disease is also associated with elevated risks for uterine, kidney and colon cancers."

I was tested for Cowdens and told I did not have it. And was told that I could have another mutation for which a gene had not yet been discovered. Now "Researchers have discovered a new gene, SEC23B, associated with Cowden disease, an inherited disorder that increases risk for thyroid, breast, endometrial and other cancers." This is real progress in that more than one gene mutation can cause similar problems.

So maybe there is a gene for me which would explain my unhealthy body. A note about gene mutations is that they do not have to be inherited, they can mutate just for you.

I saved the best for last. Rheumatoid arthritis has been shown to shorten your lifespan. Yippee yahoo. I needed to know that.

"Rheumatoid arthritis may raise the risk of early death by as much as 40 percent, with heart and respiratory problems the most common contributors to a shortened life span, a new study suggests."

And did you  know that some RA medications can cause respiratory problems? Since my diagnosis I am back to yearly chest x-rays.

See I really need to stop reading medical news. Its bad for my mental state, whatver that may be.

Just because we can doesn't mean we want to

Genetic testing is all the rage now. I mean we have movie stars and news casters who are public with their cancer diagnosis and genetic test results. But not every one is not a fan of them.A recent study found that just because patients could have genetic testing, they didn't necessarily want it.

"The study found that of the 49 patient participants, all of whom have a family or personal history that puts them at-risk for development breast and other forms of cancer, more than one-third declined multiplex testing."

I am on their team. When I was diagnosed with breast cancer, I was told that for people who had both thyroid and breast cancer it was recommended that they get genetic testing for Cowden's syndrome. I basically went along with what they wanted and had the test. Then I thought about, well what the hell would I do with that information? My doctors told me if I had it, I would receive more screening than if I didn't.

Really? More screening? Is there more screening that I could have? I have had cancer twice and RA, fibromylagia, and my back. I see doctors all the time. I have had 25 appointments in the past six months plus five separate trips for blood work. These include CT scans, x-rays, eye doctor, dentist, specialists, and more. I don't think I can fit in much more into my schedule.

I am in the group of people who say just because we can do something, doesn't mean we have to or want to. For example, nowadays they microchip all our cats and dogs. So in theory we could probably microchip people. No one is every microchipping me. But I could clearly see this happening in a science fiction novel. Just because we can buy a new car every year, and some people do get a new car every couple of years, doesn't mean I see any need or want to. 
Plastic surgeons tell us that they can fix wrinkles and aging. I'm fine with the way I look. I don't want any more surgeries. Or to color my hair to hide the incoming grays. At least I have hair and I'm still here.

Genetic testing is possible and the science part of the world is all over it. But not every one wants it. They prefer to go through life with the crap shoot that comes along with it. I don't need a crystal ball in my life. It makes life more interesting to say the least.

Genetic Testing's Downside

Finally someone did a study about a lot of genetic tests. And the results were not that good.

Allow me to state that I have never been a fan of genetic tests. I am not someone who is going to go out and have any genetic tests, any more than I am going to get my palm read or see a fortune teller. I have no desire whatsoever to find out what could be in store for me. I have enough going on currently without worrying about the future as well.

The thing about genetic tests is they tell you if you have a gene mutation or variant that could show an  increased or decreased risk for something. Some of the things could be minor, like getting gray hair younger (like my siblings) or a propensity for wrinkles. Some things could be major, like cancer or a heart condition.

Genetic tests tell you what you could have happen. But they do not tell you what the risk is. The only way to know the risk is for test results compared to other test results and their health issues. The data must be shared. But not all labs share their data.

"...  not all gene mutations, or variants, are equal. Some raise risk a lot, others just a little, and some not at all. Most are of unknown significance - a quandary for doctors and patients alike. And most variants are uncommon, making it even tougher to figure out which ones matter and how much.

To solve these mysteries and give patients better information, the U.S. government several years ago helped form and fund ClinVar, a database for researchers around the world to pool gene findings, coded to keep patients' identities confidential. More than 300 labs contribute to it, including universities such as Harvard and Emory and some private companies such as Ambry Genetics and GeneDX."

"...So far, the project has tracked more than 172,000 variants in nearly 23,000 genes, a small portion of the millions known to exist but some of the more common ones that have been identified.

More than 118,000 of these variants have an effect on the risk for a disease - and 11 percent have been analyzed by more than one lab so results can be compared. In 17 percent of those cases, labs interpreted the findings differently, as either raising the risk of a disease, having no effect on it or having an unknown effect.

At least 415 gene variants now have different interpretations that could sway a medical decision, such as whether to have healthy breasts or ovaries removed to lower the risk of cancer, or to get a medical device such as an implanted defibrillator to cut the risk of sudden cardiac death."

The first problem is not all labs interpret the results the same way and then the problem of what to do about them surfaces. Data sharing will help with these problems as more data is shared and compared.

Genetic mutations

As I hear the news that Angelina has had another surgery, this one to remove her ovaries and fallopian tubes, I ponder, what would I do? But as I listen to the doctors on TV talking about how she has reduced her risk of ovarian cancer significantly through this surgery, I am inclined to agree with her.

She has had a difficult medical journey with a BRCA 1 gene mutation and a strong family history of breast and ovarian cancer. I would think that anyone faced with this type of decision would agree that all need to make their own decisions but her decisions sound logical and she seems to be comfortable with them.

One thing that has always concerned me about genetic research is what if I had one? What would I do? I have no idea. At one point I was tested to see if I had a specific genetic mutation, one that is found in women who have both breast and thyroid cancers, and was told I didn't have it. Which was a big relief.

I mean if I had a genetic mutation, what would I do? First of all, genetic mutations can be inherited or can occur in individuals. Then you get a label - being a mutant - and you get stress. Now you have to make decisions on how to deal with it. There is often not much you can do about a mutation, other than watchful waiting.

Some of them, like BRCA, you can have surgeries or take medications and reduce your risk of health issues. Many others, there is much less you can do. You just get more medical visits and follow ups to test for issues. I think you would be stuck, waiting for the inevitable to happen. Not fun.

You may call me a weinie but I have never had any desire to find out what mutations I might have. I know I seem to have been dealt the unlucky hand in the health lottery, but I do not want to know if more ailments might be in store for me. I prefer to enjoy my life as it is now instead of stewing over what might be. I know what my life is now but I have no way of knowing what might be.

Please take a nanosecond to feel sorry for Myriad Genetics

They have become lawsuit happy. The Supreme court has said no company can hold the patent to a gene last summer. This means that Myriad Genetics has lost their monopoly, huge prices, and ability to strong arm the breast cancer population with their patent on the BRCA genes Okay that nanosecond is now long over.

Now we can get on the road to reality. Myriad has decided that since they have lost their patent, their lawyers are going to get rich. They are in the "let's sue so we can keep our monopoly as long as possible".

"Last week's ruling by Judge Shelby is perfectly clear about all that is at stake for Myriad:

Although Plaintiffs [Myriad Genetics] have shown that they are likely to suffer irreparable harm through erosion of their test pricing structure, loss of their share of the testing market, and loss of their exclusive patent terms if an injunction does not issue ... Plaintiffs are unable to establish that they are likely to succeed on the merits of their claims.

In other words, Myriad's earnings will undoubtedly take a serious hit from increased competition, but this fact cannot override the substantial doubt about whether they will prevail in their legal claims."

I hate people that are lawsuit happy.

But this underscore additional issues with genetic testing and personalized medicine.

"Not only have the courts pushed back on Myriad's monopoly, at the end of 2013, the Food and Drug Administration (FDA) moved to stop the direct-to-consumer genetic testing company 23andMe from marketing and selling its DNA testing service without approval.

As with all medical drugs and devices we must balance the desire for innovative new treatments with our demands for safety and efficacy. As more labs and companies enter the BRCA testing market, we must ensure that these tests are properly regulated to protect public health and patient interest. Genetic tests claiming to provide medical information must be analytically and clinically validated so we know that what companies are telling customers is in fact accurate. Nor should companies be permitted to overpromise the benefits of genetic testing or to drum up people's fear of disease in order to sell more tests. All genetic testing should be accompanied, both before and after testing, by independent and professional genetic counseling so that potential customers understand the limitations of testing, their individual test results and all of their medical options.

Finally, we should refuse to allow companies to hoard, for their own gain, our medical and bio-data collected through the process of testing. Critics of Myriad have long noted that the company stopped contributing to the primary international database on genetic mutations related to breast cancer, in what is widely seen as a move to further capitalize on their monopoly access to more than a million women's family history and genetic information. Similar critiques have been made that 23andMe is using its customers' bio-data and familial information to launch new business products."

Genetic testing is the new thing. I'm  not ready to turn my DNA over to just anyone. And I would be very upset if they tried to upsell me on additional tests based on what I already have...

But I will follow this story and see where it ends up. But I never felt sorry for Myriad Genetics.