Tag Archives: cure

Genetic Mutation Tests. Get Them Done!

Mutation testing is a subject near and dear to my heart. I can’t say how many people I have met who have lung cancer but know nothing about genetic testing. As a matter of fact, not so long ago, I didn’t know much about it either. (And, to tell you the truth, I’m still far from an expert. But, I know enough to tell you that the testing is very important and it can be a life or death test.)

So, What is Mutation Testing?

Mutation testing has a bunch of different names: molecular profiling, molecular tumor testing, biomarker testing, genomic testing, testing for gene mutations, genetic testing, genetic mutation testing, and more. It can be very confusing, for sure. But, here’s what you need to know – if you have lung cancer, especially nonsmall cell lung cancer (NSCLC), you are doing yourself a big favor if you ask your oncologist to get mutation testing, by whatever name, done.

Why is mutation testing important? Our cancer is unique to us. Each tumor cell is made up of specific proteins and molecules. According to American Cancer Society, normal cells do not have mutations, cancer cells do. Genetic testing allows doctors (pathologists) to take a detailed look at tissue from your tumor to see what mutations exist in its DNA and exactly what proteins are present.

 

How is Mutation Testing Done? Does It Hurt?

No. Or, it doesn’t hurt if you have tissue available from your previous biopsy. The pathologist will just use some of that tissue to do further tests.

If you do not have enough tissue left from your biopsy or the tissue is old, it will be necessary to get more tissue. Depending on where the tumors are located, the procedure could be simple or a bit more involved. I had a tumor on my supraclavicle lymph node (collarbone) so it was very simple to take tissue from it for further testing.

Why is It Important to Have My Tumor Tested?

Your tumor was already tested to a certain degree. The pathologist took the tissue from your biopsy and used it to determine what kind of cancer you have. If you have nonsmall cell lung cancer (NSCLC), then the pathologist looks at the tumor a little closer to determine what subtype it is. Generally, you will learn that you have adenocarcinoma (about 40% of NSCLC cases) or squamous cell (epidermoid) carcinoma (25-30% of NSCLC cases), but you may have one of the less common types, large cell (undifferentiated) carcinoma, adenosquamous carcinoma, sarcomatoid carcinoma, etc..

Your oncologist uses the information from the pathologist to determine a treatment plan that will be the most effective against your tumor type. Recently, it has become more affordable to provide the oncologist with even more information about your tumor type so that he can hone your treatment plan further.

Depending on the characteristics the pathologist finds in your tumor, your oncologist may decide that there are targeted therapies or immunotherapies that likely will be most effective against your tumor(s). In (very) simple terms, targeted therapies attack just your tumors, instead of all of your cells like chemotherapy does. Immunotherapy works with your own immune system so that it can see and destroy the cancer cells.

According to Memorial Sloan Kettering Cancer Center, about 60% of adenocarcinoma lung cancers will have specific mutations. Many of these mutations may have targeted therapies or immunotherapies available to treat them.

Among the most common mutations for which there are targeted therapies are Epidermal Growth Factor Receptor (EGFR), Anaplastic Lymphoma Kinase (ALK), ROS1, and T790. Scientists are discovering more and more mutations every day and finding treatments that work effectively against them. Immunotherapy works best when there is a large amount of a protein called PD-L1 in your tumor.

I’ll take this time to make a brief plug: more, more, MORE money is needed for lung cancer research. We’re talking lives here!!!!

Take a look at the Don’t Guess Test Web site. Among the vital information you will find there, you will find a PDF that you can download and take when you see your doctor.

 

 

 

21st Century Cures Act

So … I am departing from my usual type post and am going to talk about the 21st Century Cures Act (H.R. 6) here. I had never heard of it until a month ago. A much bigger thing should have been made about it. Not only because it will impact all of us, but because both Republicans and Democrats came together to pass the bill in an act of overwhelming bipartisanship. If only we could see a lot more working together. Think what we could do for this country.

I wonder how many of you have ever heard of H.R. 6? It was passed on July 10th of this year. I didn’t hear about it until I was speaking to Senator Pete Sessions in late September. I meant to research it then, but kept forgetting. I heard its name again this week. Because I am once again putting aside my public speaking fears and speaking in Fort Worth next week, I decided it was time to learn a little something about this act.

Purpose

The purpose of the 21st Century Cures Act is “expediting research and development on debilitating diseases, and making it easier to get important treatments to the patients who need them.”  (http://www.theatlantic.com/politics/archive/2015/07/21st-century-cures-act-bipartisan/398369/)

Major highlights of the Act include:

  • increasing research collaborations (imagine! working together to find cures!!)
  • promoting personalized drug treatments (think biomarkers, targeted therapies)
  • streamlining clinical trials by making it easier for pharmaceutical companies to bring drugs to market (will this help reduce the exorbitant cost of drugs? Or, as critics warn, weaken the safety standards?)
  • creating incentives for the development of treatments for uncommon but deadly diseases (this surely gets two thumbs up)
  • encouraging young scientists to stay in the research field (huge!)
  • providing more funding to National Institutes of Health (NIH) ($1.75 billion per year for the next five years) and the Food and Drug Administration (FDA) ($110 million per year)

 

Facts

Here are some facts, according to an article in The Atlantic and a FAQ from the Energy and Commerce Committee:

  • Passed through House Energy and Commerce committee with a 51-0 vote (nearly unheard of in today’s climate, especially for a bill that is termed “substantive and substantial”)
  • Funding will come, in part, from a modest reduction of the Strategic Petroleum Reserve (SPR)
  • Bringing new drugs to the market can cost hundreds of millions of dollars (or more), meaning promising ideas are abandoned or tabled.
  • For every 5,000 to 10,000 promising treatments, only one or two end up in the marketplace
  • Finding a cure or effective treatments for the more than 5 million US citizens who suffer from Alzheimer’s could cost the federal government $15 trillion over the next 40 years; currently the disease accounts for nearly $140 billion per year in Medicare and Medicaid payments.
  • The FDA would be required to listen to patient voices/experiences when approving experimental drugs and devices
  • Patient-generated registries would be used to recruit participants in clinical trials
  • Genetic testing would determine a patient’s predisposition to respond to targeted therapies

Take the time to learn more. Then, email any comments you have about this initiative to cures@mail.house.gov (note: submissions to this email address will be made publicly available on energycommerce.house.gov/cures)