What is a patent and what did the US Supreme Court decide about human genes and patents?

June 13, 2014

The US Supreme Court ruled that human genes cannot be patented. A patent is the authority to make, use, or sell something. Myriad Genetics Inc. sought patents regarding genes for which some versions have been linked to breast and ovarian cancer–the BRCA gene mutations. The Court decided that identifying and isolating these genes is not worthy of a patent. On the other hand, Myriad also has created a synthetic form of DNA known as cDNA and that was determined to be worthy of a patent.

For patients, testing for BRCA gene mutations may become more accessible. Until now, Myriad has had the only genetic test for BRCA gene mutations. Perhaps others will now develop testing and contribute to cost reductions, since Myriad does not hold exclusive rights to make, use, or sell products associated with these genes.

Talking about Angelina Jolie’s dislcosure about BRCA mutation and surgery

June 4, 2013

With Angelina Jolie’s disclosure about testing positive for the BRCA mutation that strongly predicts the likelihood of developing breast cancer, a lot of media stories have covered her genetic testing diagnosis and subsequent decision to have a mastectomy. A number of important ideas have been included in Angelina’s talk about her diagnosis and decision. She has emphasized that the genetic test is expensive–about $3,000. Perhaps there has been less emphasis on why and when health insurance is more or less likely to pay for the genetic testing, or some part of it at least. Payment is more likely in situations where a family member has tested positive for the mutation or has developed breast cancer at a young age.

The story has focused more on her decision perhaps than on the relative rarity of having the genetic mutation linked to breast and ovarian cancer. The decision to have the mastectomy relates to the 85% or more likelihood that she or anyone with the mutation would develop breast cancer. So this mutation of a gene that we all have is indeed very strongly indicative of a future breast cancer diagnosis. The decision to have breast tissue removed is Angelina’s way of reducing that risk to more like 5%.

Another fact that the stories have not emphasized is the reality that only about 5% of the women diagnosed with breast cancer have a BRCA mutation. For the other 95%, environmental and behavioral factors contribute to the diagnosis. So it is critical that we focus attention on that reality.

When is reading a mammogram like looking for a polar bear in a snowstorm?

August 9, 2012

When you have dense breast tissue… at least, that is what some physicians say [go here, for more: http://www.womentowomen.com/breasthealth/densebreasttissue-mammograms.aspx ].

It has been 15 years since my annual mammogram led to a callback from the doctor for more x-rays and then a needle biopsy and finally ‘the all clear’ — no sign of cancer pronouncement. But it happened again last week. I got my annual mammogram on my way out of town to go to Atlanta for a visit with my daughter and granddaughter and son-in-law. And the day after I had the screening, I got a message on my home machine to call for a return visit…

Things have changed in the last 15 years, of course. Now, digital mammography makes some things more likely to be seen on the x-ray compared to film. Go here for a comparison: http://www.umm.edu/breastcenter/digital_mammography.htm?gclid=CNbCiKu_27ECFUlnOgodsH4A_A

At any rate, I returned to the imagery center for more x-rays. Here is how the communication went. First, it was nearly impossible to understand the message on my answering machine. My husband and I listened to it a half dozen times. We looked up the phone numbers of the imagery center, and none of them matched what we thought we were hearing. Nonetheless, I wrote what we thought they were saying and tried the number. It rang out to a message saying that it was long distance. Not likely then to be what I needed to call. Next, I tried calling the number using the first 3 numbers that all the numbers online for the imagery center used. And the last 4 numbers we thought the caller was saying that appeared nowhere in the online listing. Success. I got a nurse who checked and said, “When can you come in?” And I made an appointment for the day after I would return from my visit, which was a week after the first mammogram.

I went to the imagery center, this time with my husband coming in. The volunteer greeted me with, “Oh. I am so sorry.” Yikes. Not what you want to hear. She remembered me from the week before because we had a long chat about my height. At any rate, I would venture to say–“so sorry” is not quite the right expression in this situation. Perhaps “sorry you have to come in for more tests” if ‘sorry’ is to be used at all. The expression and her empathy were, however, unsettling.

Once I was in the room with the x-ray technician, I encountered the other end of the spectrum. The communication was reactive rather than proactive regarding what she wanted me to do. “Put your arm up and grab the handle? I did. “No. Turn this way. Face the machine.” Her tone was irritated. Wow. It is 9:30 in the morning. Why is she so grumpy? I am the one getting my boob smashed again.

She sighed. Letting out a clear expression of annoyance, she said. “Stick your bum out.” Who talks like that? “No. Look at me– Like this–” she said as though talking to someone she regarded to be extremely stupid. Finally, she was satisfied.

Time for another image. She turns me a bit and I try to enact what I have learned. I stick my bum out. “No.” she says harshly. “Stand up straight.” My arm began to quiver. Unavoidably uncertain about what I was doing wrong. Several more images and abrupt commands later, we were done.

“Will the radiologist come in here to discuss these with me?”

“No. Wait in the waiting room. I will get you when he is ready for you.”

I asked the volunteer if she would get my husband when I got called to the radiologist meeting. She told me to ask the technician to do it. So, when the technician came to get me, I asked her. And she did. No attitude. Wow!

And then there was the radiologist. I don’t think he could have been nicer or clearer. He put two pictures up on a screen and pointed to a small round dark spot about the size of a pellet for a BB gun. “This is what we’re looking at that’s different,” he said. “All this is your muscle and dense breast tissue.” It all looked like a lot of snow to me but I could see the BB…

“We’re going to do an ultrasound to see what we can learn about that spot.”

“What will the ultrasound tell you?”

He launched into a helpful answer that I will summarize as, ‘if the sound waves go through the mass, it’s a cyst. If they don’t it may be something we need to take a look at.’

The sound waves showed no mass. He spent plenty of time making sure that it did not appear in any direction. And then he announced, “I believe it’s a cyst. I will call this ‘normal’ and you won’t need to return for a year. Unless, of course, you see or notice changes that should be checked. Any questions.”

Hip Hip Hooray…. But I wish someone would give me a satisfaction survey to fill out about the volunteer and x-ray technician. I have a few thoughts about how their communication could be improved.

Health communication about medical test sensitivity: The TSH and CA 125 blood tests example

July 23, 2012

Doctors often recommend blood tests to help them diagnose our condition or to check our health status. For example, I have an underactive thyroid condition. As discussed in my book ‘Talking about health’ — my ‘normal’ numbers fall outside the range of a healthy ‘normal’ [see for a discussion http://www.denvernaturopathic.com/news/TSH.html]. I was diagnosed with this condition in my 20s and have taken daily medication to address it since that time. My mother was diagnosed with the condition in her 20s as well. I go to see my internist annually, and he puts in an order for a TSH [thyroid stimulating hormone] test [http://www.endocrinology-online.com/Content/For%20Patients/TSH.htm] that I go to the lab for several weeks before my scheduled appointment. This test is considered to be very sensitive–but what does that mean? It is the probability that a person having a disease will be correctly identified by a clinical test. However, a careful reading of the article at the link shows that the results may depend on the time off day you were tested–a reason why the test is given in the morning after fasting.

But aren’t all medical tests highly sensitive? Otherwise, why do them?

The answer to the latter is ‘because that is the best that can be done’. The answer to former is ‘no’.

Take the CA 125 test, for example. The test was hoped to be a valid indicator of ovarian cancer. However, the test indicates the presence of other disease as well. So a positive CA 125 test validly indicates the presence of ovarian cancer sometimes but often does not:

“The result of a Ca-125 test is interpretable only by considering the context in which it was ordered. When you order a Ca-125 test you will have to estimate your patient’s risk for having ovarian cancer. If your patient can be put in a group in which the likelihood of cancer is high then a positive test is probably correct and a negative test wrong. If your patient can be placed in a low risk group then the positive test is probably wrong and the negative test meaningless. Furthermore, there is no way to evaluate a positive test. You can repeat the test and pick the best 2 out of 3; 3 out of 5; 4 out of 7, etc. Otherwise, she will be heading for surgery” [http://www.gynoncology.com/ca-125/].

So if your doctor orders a CA 125 test, remember that the results should be discussed. This is true of all medical tests.But when a test that has been ordered is not highly sensitive, it is really important to discuss the meaing of the test result. If the test comes back positive and is not highly sensitive, have a conversation and ask: ‘What’s next to rule in or rule out the condition you were testing for?’ AND ‘What other conditions could the positive test result suggest I may have? How will we rule out whether I do or do not have them?’

Health communication and Dr. Oz’s message about paraben

May 1, 2012

I am in the midst of final exam week and grading. In the background, Dr. Oz started talking about ‘paraben’ and how it acts as an estrogen. I am always on the alert for these kind of messages. Hormones, research, cancer, blood clotting… these all came to mind. I got up from the computer and went to listen carefully. And then I went to my bathroom. My shampoo have five kinds of paraben in it. My two different types of body lotions had multiple forms of paraben as well. I got rid of them. Trash. Not a moment’s hesitation.

Why? Well, one of the facts Dr. Oz shared is that in one research study, 19 of 20 women diagnosed with breast cancer had significant levels of paraben in their breast tissue. I will hunt down the research and share it soon. For now, here is a summary of content from Dr. Oz with the link to the story at the end:

”

Flushed Away

We all know about industrial pollution and climate change, but there’s a new threat to the environment much closer to home – pharmaceutical and personal care product pollution (PPCP). Experts are increasingly worried that marine life across America is showing us the harm it’s doing to our planet and ourselves.

What’s Happening to the Environment?

In river basins around the country, the United States Geological Survey has found fish with both female and male sex organs. Intersex frogs are also popping up all over. And experts have found evidence of chemicals called endocrine disruptors, such as atrazine (an herbicide) and Bisphenol-A (BPA) in the country’s water supplies.

What are Endocrine Disruptors?

These chemicals alter the actions of hormones in our body, which can hurt us in 2 ways. First, they can block our hormones from acting as they normally would, and, secondly, they can act like hormones triggering effects that may include early onset puberty in adolescents.

What’s Happening to Us?

Breast cancer rates are increasing, girls are entering puberty earlier, sperm counts and testosterone levels are falling drastically, and certain genital abnormalities are on the rise.

What Should We Watch Out For?

Though the evidence is not definitive, experts fear that products we are introducing into our environment could be to blame, and they are urging us to decrease the use of certain chemicals. Here’s what to look for:

Bisphenol-A (BPA)You may have heard about BPA, the chemical used to make hard plastics, line cans, and create carbonless receipts. It’s proven to raise the risk of breast cancer in rats and the FDA has raised an alarm about the potential harm BPA can cause; Connecticut even banned its use in children’s products.

Ninety-three percent of us have BPA in our bodies. We live with it, and we excrete it when we go to the bathroom, sending the chemical into the environment.

[ pagebreak ]

Phthalates

These difficult-to-pronounce ingredients help fragrance linger on the body after you have applied a lotion or body cream to your skin. They’re also found in toys, floor coverings, detergent, soaps, nail polish, and shampoos. Unfortunately, they mimic the hormone estrogen and have been linked to reproductive problems in rodents, such as lower testosterone and fetal malformation. Often they are not listed on beauty products, so the best rule of thumb is to avoid any products with fragrance.

Parabens

Found in moisturizing shampoos and body lotions, parabens are the most widely used preservatives in the beauty product industry, and they also act similar to estrogen in our bodies. One study found parabens in the breast cancer tissue of 19 out of 20 women studied; experts worry there could be a connection.

Use these chemicals as a litmus test for a healthy product. If you see them listed on the label (often as methylparaben, butylparaben, or propylparaben), it shows that the manufacturer is not concerned about limiting exposure to potentially harmful chemicals.

Leftover Prescription Medicine

The medication we take ends up in our water supply in 1 of 2 ways. We secrete it in our urine (which we can’t control), but many of us also flush unused medication down the toilet, contributing to the rising amount of pharmaceutical pollution found in our water supply. In 2008, the Associated Press found that dozens of pharmaceuticals end up in our water supplies, and eventually, in our tap water. That’s because water treatment plants are designed to neutralize biological hazards, such as bacteria, but not pollutants such as antibiotics. Scientists are now discovering bacteria in the wild that are not only resistant to antibiotics, they can actually live off them.

What Can You Do?

Drink water from stainless steel bottles
Avoid plastics with the numbers 3, 6, and 7 on the bottom
Never heat plastic in the microwave (even if it says it is microwave safe)
Choose frozen and fresh produce over canned
Use BPA-free baby bottles
Avoid any products that contain fragrances; opt for those that get their scent from essential oils
Stay away from parabens
Choose products that are paraben- and phthalate-free
Dispose of leftover medication by throwing it in the trash with coffee grinds or cat litter (to keep harmful medications from being picked from the trash), return the unused portion to your pharmacy, or go online to find your local hazardous waste disposal facility.”

http://www.doctoroz.com/videos/flushed-away?page=2

When is disclosure of a medical test result an obligation?

April 17, 2012

What does it mean to be a public figure like Warren Buffet? It seems that it includes a feeling of obligation to inform the public of medical test results. Which is what he did today. In a way that reflects hope and action. His message is a good example of talking about health.

Telling it like it is…communicating about end-of-life

March 13, 2012

Consumer Reports and Apple Juice: Why Did Dr. Besser Apologize to Dr. Oz?

December 11, 2011

Not long ago, near the end of September, I reflected on the debate that took place between Dr. Besser and Dr. Oz about apple juice. It was a chance to consider the meaning of evidence when reports appear about the safety of food or other substances. I noted that I would have appreciated it if Dr. Besser had spent more time talking about why the evidence was of poor quality and less time attacking Dr. Oz.

Well, new data is in. Dr. Besser apologized to Dr. Oz and aimed his criticism at the FDA where data about arsenic in applie juice had been piling up for a number of years. A new study released by Consumer Reports added to that data. Dr. Oz gives tips about the amount of apple juice that should be safe for children at different ages to drink. It is clear that all of us need to keep asking for answers to the question: how did the science reach that conclusion? When we ask, someone just might listen and try to give a more valid answer…

What interesting bit of information did I learn on the Rachael Ray show?

September 8, 2011

Imagine my surprise when I was listening to Rachael Ray’s cooking show and one of the guests was a female doctor who talked about a number of important health issues and took some questions from audience members. I was surprised that this guest was on a cooking show. But then I was surprised by some of the information she discussed.

Along the way, she told the audience that they should refrain from sexual intercourse for 24 hours before having a pap smear to screen for cervical cancer. The reason for doing so is to increase the accuracy of the test results. I always receive written guidelines about preparing for my annual mammogram, including such things as not to wear deodorant or powder or lotion. But I have never received any guidelines about preparing for a pap smear. Not on an appointment reminder card. Not face-to-face with the person checking me in. Not from my doctor. Not in passing in conversation with other women.

I wonder how many dollars we would save if women knew to avoid sexual intercourse for 24 [the recommendation in the attached summary says 48] hours before an appointment for a pap smear and followed this advice. Apparently, sometimes the test result will show something that seems to be a problem but isn’t because a woman has had sexual intercourse.

I looked online and found some guidelines at http://womenshealth.about.com/cs/papsmears/ht/preparepapsmear.htm. I guess I will make it a goal to check whether there are things I should do to prepare for screening tests I have from now on. I suspect if you are like me, getting these things done on the prescribed timetable is hard enough. Too easy to procrastinate. I sure don’t want to have to them again just because I wasn’t prepared properly the first time.

…cell phones and cancer…why now?

June 2, 2011

We have been hearing about the World Health organization’s conclusion that cell phones pose a health risk that is similar to lead exposure [http://www.latimes.com/health/la-he-who-cell-phones-20110601-1,0,3926296.story]. A summary of the report will appear in a medical journal in July. But advance news stories indicate that as with lead exposure, more exposure increases risk. Cell phone use rarely–less risk. Cell phone use for hours at a time and/or every day–greater risk.

Why has this report come out now? Last year, the U.S. National Cancer Institute reviewed research relating to cell phone use and cancer and posted a summary of their conclusions at http://www.cancer.gov/cancertopics/factsheet/Risk/cellphones. It is tricky to read through the findings. They sometimes suggest that the issue has been directly studied. The ‘gold standard’ for clinical trials is based on randomly assigning individuals to a condition in which the thing to be studied is ‘given’ to those participants and another condition for which the randomly assigned individuals do not have exposure to the thing being studied. Thus, when the NCI reports about studies that have compared individuals who subscribe to cell phone service with those who do not, it begins to sound like a randomized trial. I subscribe to a cell phone service and seldom use my cell phone. My daughter has a cell phone service, it is the only phone she has [no land line], and she uses the phone–talks on it–a lot. So if we were both included in the study mentioned by NCI based on being subscribers, the results might not be an accurate reflection of a relationship between cancer and cell phone use. Subscribers who seldom use their cell phones, if included in the denominator of an equation designed to inform about risk, may artificially reduce the overall risk.

For example, if there are 2 cases of cancer in people in the population that is not subscribed to cell phone service–let’s say that is 100 people–and there are 2 cases of cancer in people in the population that is subscribed to cell phone service–let’s say that is 200 people–it suddenly appears that there are fewer cases in the latter…. But what if only 50 subscribers use the cell phone everyday….not even counting how long everyday–just everyday. 2 cases among 50 people is twice the risk of the poulation of nonsubscribers… Is that accurate?

So that has been the challenge for some years now. No one is going to conduct a randomized trial of cell phone use in which they randomly assign some people to be users and some to be nonusers, and then have some users use briefly everyday, and some users use for two hours, and some more…and track cancer incidence across yearssssss of the lives of the participants. So we have to rely on the research that makes comparisons such as the one described above. The WHO’s group of scientists apparently reached the conclusion that the nearly four dozen published studies reviewed with the thousands of particpants is sufficient evidence to classify cell phones as a possible risk for cancer. In view of how cell phones work, it seems a safe bet. And the ways to reduce risk by using the cell phone with a device that keeps the phone away from my brain is an easy and effective way to reduce that risk…