Chapter 8: In Science We Trust

There is no doubt that Americans pay the most for their healthcare. Usually we assume that when you pay more you get more  and  that not only are you getting more, but the quality of what you are getting is also much better. This idea of paying more to get more resonates all throughout culture.

That is not always true in science and in health care.  Sometimes your money input isn't seen your quality output.
Today we are going to look at the price of genetic testing and see how it has had an influence on it availability to the general public.

Let me start off by saying how upsetting it was for me to see people being exploited essentially for having to pay so much money for their genetic test.
The table below is a table that is based on a Genetic Health   of approximately 38 clinical laboratories offering tests for the different genetic syndromes listed to the left.

If you look at BRCA1 and BRCA2, to get the sequencing and see if a person has any SNPs (single nucleotide polymorphisms) that are common in breast cancer, someone would have to pay $1,290  for each gene. That is $2,580 in total!!! That is not including doctor visits and possibly surgery depending on the outcome of the test.

Seems a little much, don’t ya think?


While reading this I was thinking about insurance and how insurance would come into play and how much they would cover for this.
Often times insurance companies will cover for these tests, BUT if you want to switch insurance companies after having this test done, other insurance companies can deny your request based on what is on your record.
But what about people who don’t have insurance, or who have insurance that doesn’t cover this?

Paying out of pocket is always an option, but once again you are paying a lot of money.  Often times, people who do not have insurance are people who simply can’t afford it.

So wait, let me get this straight, people can’t afford to have insurance, but yet they would be able to afford genetic test……… Yeah, I didn’t think it made sense either.

Another umbrella that people find themselves are under the “ I have insurance that could cover this, but I don’t want this on my record, so I am going to pay out of pocket.” The problem with this is that if they do pay out of pocket and they need any other medical treatment that is associated with getting a genetic test, the insurance company won’t cover it because it is not under their record that the person got it done.



Is there any hope?

While it seems like a hopeless situation, fear not! Health care and insurance has been a hot topic for our world leaders. Hopefully, they will see the importance of affordable care, both in insurance and medical treatments.


After all, a person’s accessibility to a healthy life, shouldn’t be based on their income, but rather it should be based on the fact that they are a person, and are entitled to the same medical treatment. 




References:
http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

http://www.genetichealth.com/gt_genetic_testing_costs_of_genetic_testing.shtml

Chapter 7: Cheers to Clear Articles!

I happened to stumble upon an article this week that really go me thinking about breast cancer genetic testing and how it is being portrayed  by some doctors, physicians and other health care professionals.  

The last article that I critiqued did not leave me as a happy camper, but this article by board certified Dr. Melissa A. Belli , did in fact make me a happy camper

Here is the article: http://www.huffingtonpost.com/melissa-a-belli-md/chemo-breast-cancer_b_4124702.html

The article is titled "Safely Avoid Chemotherapy in Breast cancer With New Genetic Test"

While the title seems a bit biased at first, there is much truth to her statement. She delved into the topic of a new genetic test, called Mammaprint, that was recently used in a study to classify patients as either "low risk" or "high risk patients" for breast cancer metastasis.  This new genetic test, she describes, looks at 70 genes in the patients.

Not only does Dr. Belli clearly explain the benefits of the new test, but she also back ups her statements with studies that support her.  She mentions all the studies that the new Mammaprint is used in, and the results, as well as includes an extensive list of references.  It is very clear that not only is she knowledgeable about the subject area, but also is very concerned about the well being of her patients and women world wide.
 
Kudos to you Dr. Belli for publishing an article that is well written, clear, concise, and most importantly informative. 
Two thumbs up!


Picture References:
https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEiypOzdpEi7i8-esTdaP8wN77oMegckfrX0GLUxRhTo8COeZ_DohkFx61wWi5T_ZEUEdG0nfBZCYojYUfxLeSk-ziOeWoEFbzMqYaOyU6cZTCu9QJODW_uyKW653IuHM3JVckPa5Aoasjg/s1600/thumbs+up+happy+face.jpg
 http://www.earthsunmoon.com/newimages/designs/514_350.jpg

Chapter 6: FAQ

I may not be a magic 8 ball, and have the answers to all your questions ( ie what is the meaning of life? or what does the fox say?)  but I do have the answers for some of your questions regarding breast cancer and genetic testing.

For the last few weeks we have been talking about the ins and out for breast cancer and the genetic testing for it. For those of you who are stopping by for the first time, well first of all, welcome, and secondly I thought a small and comprehensive little FAQ would be the best thing. If you want to know more detail, feel free to go through my blog and get more detail.

So  Let’s start!

What is Breast Cancer?

Breast cancer is the uncontrolled growth of cells in the body located in the mammary glands, but can spread through out the body.

What are BRCA1 and BRCA 2?

BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. They are two most common genes mutated in breast and ovarian cancer. Mutations can be inherited (leading to a predisposition to the cancer) or acquired.  

If I test positive for BRCA1 or 2 what does that mean?

A person’s risk of developing breast or ovarian cancer is much higher if they inherit a harmful mutation in BRCA1 or BRCA2. Unfortunately, with this inherited mutation, the cancer is more likely to develop at a much, much earlier age.

Should I be tested for BRCA mutations?

Going to your doctor as well as speaking to a genetic counselour will help you understand whether you should or should not have the genetic testing done. Signs that you should consider genetic testing are as follow:

·         Many family members with cancer diagnoses throughout several generations, either from your mother’s side or through your fathers side.

·         Family members who have been diagnosed with multiple cancers (for example, breast and ovarian)

How does genetic testing work?

A genetic test for the BRCA mutations involves a give a blood sample at your doctors office for analysis.  The results will come back in several weeks.

What do the test results mean?

A positive test for a deleterious mutation means the person has inherited a genetic mutation on the BRCA1 or BRCA2 gene. This means a higher risk of developing breast or ovarian cancer, and that they are predisposed.  It is not a guarantee that they actually will develop the cancer.

A negative test means there is not an inherited genetic mutation in the BRCA genes. This does not mean that there is a guarantee that the person will not ever develop cancer in their lifetime. There are many, many genes that are involved in breast, ovarian, and other cancers, and some of them are still unknown.

What are my options if I have a positive test result?

You have several options to manage your cancer risk.

The first thing is surveillance. With this you should begin cancer screenings at an earlier age, including mammography and breast MRI.

Another option is surgery. Women usually have their ovaries removed. This would reduce the risk of developing breast cancer.  Counseling is very important if one decides to have the surgery. As always, timing is everything. Please take into consideration family planning, and at what age the cancer would more likely develop.

There is also the option for medication. There are two drugs that have been shown to decrease the risk of breast cancer: tamoxifen and raloxifene. Both are taken as a daily pill.

For those of you who do not know what the fox says, here is a little video to help you out:
http://www.youtube.com/watch?v=jofNR_WkoCE


References:

http://www.cancer.org/cancer/breastcancer/moreinformation/medicinestoreducebreastcancer/medicines-to-reduce-breast-cancer-risk-tamoxifen
http://cdn-usa.gagbay.com/2013/09/what_does_the_fox_say-360952.jpg
http://www.holisticsquid.com/holistickidwordpress/wp-content/uploads/2012/08/Questions1.jpg

Chapter 5: To Test or Not To Test, that is the question

Last week we talked about the importance of Autonomy and informed consent when it comes to genetic testing for the BRCA 1 &2. This weeks topic will go hand in hand with this idea of informed consent, and will talk about the pros/benefits of genetic testing as well as the cons/risks 

It is important for anyone who has a family history of breast and ovarian cancer to understand the pros and cons of genetic testing

Cons

With genetic testing, depending on the results, there could be a lot of harmful risks. The first would be that the testing could cause a lot of mental and emotional distress. A lot of patients who get the genetic testing done may undergo a lot of stress because it causes them to think about the fact they may be prone to breast cancer.  There is also the possibility of having to get a lot invasive surgery. Women who test positively with for the mutations in the Brca 1 and 2 mutations then have to make the decision whether or not they should have a mastectomy (removal of the breasts)

That all seems a little depressing, but there are also many benefits in getting genetic testing done.

Pros

The first being the simple, peace of mind. If you have a family history of breast cancer, getting the genetic testing done would give you the peace of minding knowing whether or not you are predisposed to the cancer. Not having the security of knowing whether or not you are predisposed to the cancer will eliminate a lot of the anxiety of not knowing. You also have the luxury of making the decision of taking the preventative measures to stop the development of the cancer.

In conclusion…

Whether or not a test result if positive or negative, understanding the risks and benefits of having the genetic testing done, is fundamental to making the right decisions for you and your health. Getting counseling done, and talking to your doctors, family and friends, will help you come to right the decision, whatever the outcome is. 

Chapter 4: Autonomy vs Paternalism

There are a lot of ethical issues when it comes to breast cancer testing. Today we will be talking about an ethical issue of Autonomy.  We will talk about what it means, why it is so important, and what it has to do with breast cancer genetic testing.

Here is the link for the article:

 http://www.researchgate.net/publication/8914682_Ethical_issues_for_cancer_screening

This article does a great job at giving good background information and then addressing the issue at hand.

The first that is described is one of autonomy. The way the article describes autonomy is as follows: “Autonomy is the basic right of every person to determine his or her  own life because he or she is a person and not determined by ownership of knowledge, social class, or any other attribute—except competence.'’ Basically it means that every person has the right to make all the decisions about their life, not based on intellect, or finances, or anything that has to do an external characteristic, but simply because they are a person. That by itself gives them the right to make their own decisions.  

With breast cancer, or really any ailment, the decision of getting the testing done, should be left solely to the person. While they should get counseling from their friends, family and of course, their doctor, and geneticist, at the end of the day it is their decision. It is the job of the health care providers to inform the patient as much as they can without bias. It all boils down to the argument of "Doctor knows best" and "It's My Body." At the end of the day, the decision is in the hands of the patient and no one else. 

I’ll end this blog with this last statement from the article “ The purpose of informed consent is to give power to patients who have traditionally not spoken and have been powerless in the light of medical proficiency and authority. “

Referneces:

http://bucketlistchallenges.files.wordpress.com/2012/06/make-your-own-choices.jpg

Chapter 3: Ignorance is NOT Strength

For the past few weeks, we have been focusing on more of the theoretical portion of genetic testing, and I thought it would be a good idea to change gears and look at (and critique)  an article that focuses on the controversy on whether women should or should not get genetic testing for breast cancer.

Here is the link for the article:

http://health.usnews.com/health-news/news/articles/2013/04/01/breast-cancer-gene-tests-wont-help-most-women-report

Summary of  "Breast Cancer Gene Tests  Won't Help Most Women"

The article focuses on a study conducted by the U.S. Preventative Task force. It states that there is virtually no benefit for women who get genetic testing for  BRCA 1&2 who do  not  have a family history of  breast cancer. They later state that only women who have a family history of breast cancer should get the genetic testing for breast cancer done.

Oh, boy... where do we begin. Well let's start at the beginning. A title like, "Breast Cancer Gene Tests Won't Help Most Women" is quite the statement. With there still being so much on-going research about genetic testing (in general), it is too much of a bold and vague statement to be made. Just stating that most women won't need genetic testing without any information is not helpful. It is extremely misleading to the public.

Next, genetic testing for BRCA 1& 2 isn't offered to women unless they have a family history of breast cancer.  While, I agree that women who do not have a history of breast cancer should not get the genetic testing done, the wordiness of the article (although very short), it is extremely confusing for anyone to read. 

I am one of those people who is very detail oriented, and even if the information that is presented is actually accurate, the WAY the information is presented to makes more of a difference.

News articles like this are the reason why there is a lot mis-communication between the world of science and the general public. The information that is given is usually watered down, or exaggerated and not explained.

Some details about the study and test the this "task force" conducted would have been nice. A title that did not just let the reader assume things without actually reading the article would have also been nice.

So, next time you read a publication in the science or health section, make sure your keep your eyes open for unclear and misleading statements. Ask yourself questions like, " does this make sense?' or "how can they prove this?' Often times, this media publications write articles like this to conjure up a dramatic response instead of one that is actually there to notify, and empower the public with the right facts to make informed decisions about their lives. Knowledge is Power!!



References: 
http://www.peoplefluent.com/blog/knowledge-is-power-and-relief-thank-you-mayo-clinic

Chapter 2: How is Genetic testing done?

In my last post, I gave a brief introduction as to what SNPs (single Nucleotide Polymorphisms) are. Please enjoy this short video to give you a better understanding of SNPs

Now that you understand what SNPs are, let’s delve a little deeper in to how geneticists look at the DNA during the genetic testing. 

SNP Chips

A sample of the patients DNA must first be taken. This can be done by either a blood test (usually) or a simple swab of saliva. Once that is done, next the scientist will use a something called a micro-array chip, or as I like to call them SNP chips. With these chips, they apply the DNA onto the chip. The strands of DNA separate, and each segment of DNA has a specific part of the chip that it will bind to. This is known as hybridization in the world of genetics. Once the DNA is hybridized to the SNP chip, they will add outside DNA (called probes) that are tagged with fluorescents. These florescent DNA probes will bind to the patients DNA if they are complementary. It’s like a game of playground tag, except the probes can only "tag" DNA that it is exactly complementary to. 

 This allows the geneticists to compare DNA between healthy patients and sick ones. Because each segment of DNA has specific spot on the SNP chip, it allows the geneticist to see what part of the DNA is mutated. If someone has a mutation in either the BRCA 1&2 gene, the part of the DNA that has the instructions for those cells will light up a different color than the rest of the DNA.

Here is an example of that:

What Kind of Genes are BRCA 1&2?

BRCA 1 & 2 are tumor suppressor genes. As the name suggests, these are genes that help prevent the tumors for growing in our cells. When a mutation occurs in the instructions of the BRCA 1&2 gene, it changes how they work. In breast cancer, they are turned off. When they are turned off, the cell loses its control on growth.  

References:

http://www.mdanderson.org/education-and-research/departments-programs-and-labs/labs/brown-lab/research-projects/transcription-factors.html

http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

http://www.nejm.org/doi/pdf/10.1056/NEJMoa0907727

https://www.23andme.com/health/BRCA-Cancer/

http://www.youtube.com/watch?v=tJjXpiWKMyA&list=PL4CwdpuBkK81c77rb5GqPDoh3D6trHl3-

http://www.mun.ca/biology/scarr/DNA_Chips.html

http://www.lookfordiagnosis.com/mesh_info.php?term=Genes%2C+Tumor+Suppressor&lang=1