June 21, 2013
Angelina Jolie’s decision to get a preventative double mastectomy was covered by the media in a very unusual way – a lot of the coverage was very emotional, and some of it misleading. Because of this high-profile event, it is reasonable to predict that many more women will now sign up for genetic testing, and some of them are going to end up having preventative mastectomies. Genetic testing is almost like a fortune teller, only it is scientific, accurate and better. If you know that you have good genes, there is a huge relief; and if you have faulty, ticking time bomb genes, you can defuse them in advance. This sounds awesome… maybe, just too awesome.
Until a few days ago when the U.S. Supreme Court unanimously ruled otherwise, a company called Myriad Genetics owned two genes – BRCA1 and BRCA2 – whose mutations are thought to cause breast cancer. That’s right: Myriad Genetics owns a piece of the DNA of every single human being in the world, or at least those who are bound by U.S. jurisdiction. This is similar to Isaac Newton owning gravity or Joseph Priestley owning oxygen. Nobody could even study those genes or verify the claims without Myriad’s supervision. Never mind that Myriad hugely benefited from the public genetic database to which other scientists and universities had made contributions, free of cost. It was this self-centered corporation whose claims that the public was supposed to accept without any second opinion. With a single genetic test costing more than $3000, it has been a great monopoly that has allowed Myriad to rake in more than $500 million last year.
Another puzzling factor is the certainty with which it is claimed that some specific mutations of these genes will cause breast cancer. For Angelina Jolie, she was told she had an 87% probability of contracting cancer. The marketing and the PR efforts of Myriad Genetics have been quite impressive. They benefited simply by calling the two genes “BRCA” which stands for “BReast CAncer”—a naming convention that is simple, misleading and full of false promises.
The fact of the matter is that although we have made huge progress in understanding DNA and genes, scientists have a long way to go. For one, scientists are not even sure about the total number of genes or the number of “active” genes—the ones responsible for synthesis of proteins—in human DNA. For the past couple of decades, the estimated number of these protein-coding genes kept going down, starting from 100,000 to a current number of around 25,000. Even the fact that one gene can produce more than one protein is rather a new finding that came as a surprise to modern geneticists. Scientists cannot even be 100% sure about if all of those are genes; for many of the genes, scientists can predict only with “high confidence.”
Add to this uncertainty the fact that until last year, scientists thought that about 98% of our genome was made up of “junk DNA.” Their belief was that if a gene wasn’t manufacturing proteins, it was useless. A little humility and appreciation for Mother Nature’s intelligence might have been nice. Now, scientists are beginning to understand that the so-called “junk DNA” can actually play a huge role in regulating the active genes.
A recent study shows that some mutations (“LCT13”) in “junk DNA” can promote tumors and cancer cells by turning off a gene called “TFPI-2”. The TFPI-2 gene is responsible for producing proteins that suppress the growth of cancer cells.
So, given all the uncertainties and our lack of understanding, how are scientists coming up with theories about genes? A lot of it is based on statistical data and observation. They may look for patterns in the genomes of various patients with the same cancer. For example, in a study about a particular type of leukemia, scientists found 260 genes that were mutated. They will spend the next few years analyzing the results trying to figure out if some genes and mutations stand out.
Statistical inferences, however, can lead to some outrageous and incorrect conclusions. For example, imagine reading the headline: “Ice cream causes kids to drown.” Of course, you know this is dumb, but for a statistician from Mars, this may be very plausible. He may even be able to predict the number of kids drowned in a particular month of the year if he knew the number of ice creams sold. The truth is that, in summer time, more ice creams are sold, and more children go to swimming pools. This is an example of “correlation but not causation.” As scientists are studying genes and cancers, some of their conclusions might fall under this category.
Or, think of the situation where a person studies the presidential election results and notices that states that have a very high percentage of African Americans voted for Romney–the top 3 states in this category are Mississippi, Louisiana and Georgia. How absurd would it be to conclude that African Americans supported Romney over Obama?
How about multiple factors that may affect something? Think of a person who complains he can’t sleep well. It may be related to the pillow, the mattress, the sheets, the room temperature, the person’s eating habits, the neighbor’s dog barking all night, his anxiety regarding a new job, and so on. However, if the person gets advice from a mattress sales person, guess what the solution is going to be? In case of breast cancer, some of the other genes that scientists think may play a role are CDH1, STK11, TP53, AR, ATM, BARD1, BRIP1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, RAD51 and SATB1, to name a few. The ATM gene mutation can double the risk of breast cancer. Mutations of SATB1 can affect more than 1000 other genes and is found to cause aggressive breast cancer tumors. Of course, as mentioned before, scientists are still discovering how the not-so-junk DNA also play a role.
There are also factors that can be mitigated or reversed. Think of a person who gets sunburned easily. By using sunscreen lotion, he is able to spend time outdoors even though he hasn’t cured himself of his sensitivity to sun. There are also many situations where a person can be completely cured of an ailment. Similarly, just because some genes are mutated does not mean that the risk of cancer cannot be reduced in other ways. For example, a study showed that vigorous physical exercise can reduce the chance of breast cancer by 30%. Another analysis of multiple studies that included about 125,000 participants concluded that a vegetarian diet can reduce the chance of getting cancer by 18%.
There is also another area where the mainstream media does a huge disservice to the public—it’s the use of the word “genetics” to imply something “hereditary.” All cancers are eventually “genetic” in the sense that some genes go awry and cause the cells to multiply too much and forget to die after their normal lifespan. To say cancers have something to do with genetics is saying the technically most obvious thing. However, only about 5-10% of breast cancers are hereditary in the sense that the mutations are passed on from parents to children. The rest 90-95% of breast cancers are considered “acquired” or “sporadic.”
But, rather than focusing on the 95%, the mainstream media is obsessed with the 5%, and oftentimes present wrong or misleading information. Take for example, WebMD, a highly respectable website that shows up prominently on search engines, and whose website boasts of numerous awards for its role in educating the public. Here is an article from WebMD—reviewed by Dr. Max—that says:
An estimated one-in-800 women carry the BRCA1 gene (the number of carriers of BRCA2 remains unknown).
Another article from the same website—reviewed by Dr. Movva—says:
About one woman in 200 carries the genes. Having one of them predisposes a woman to breast cancer but does not ensure that she will get it.
The first obvious error is the difference in the statistics (1 in 800 versus 1 in 200) between the two articles. But, more importantly, they got the whole fact about the genes wrong in both the articles. It’s not that some people have those genes and some don’t. Everyone has those genes – all women, and even men. Only some specific mutations in those genes are thought to be related to breast cancer. In fact, there can be more than 2000 different mutations in those genes, and not all of them cause cancer. Furthermore, even if a person has those precise “dangerous” mutations in BRCA1, there is about 40% chance that she will not get breast cancer.
The biggest source of confusion in this topic – and many modern medical issues – is corporate profit. Whether it’s a drug, a test, or a procedure, if there are billions of dollars to be made, huge public relations and marketing wheels spin into action, and people are bombarded with talking points that either promise them an amazing panacea or scare them with imminent doom.
For example, women were promised relief from menopausal symptoms through the use of hormonal therapy for decades only to be told later that those same hormones could be causing breast cancers. Mammograms and genetic testing are examples of scare tactics that benefit corporations more than people. Mammogram rates have gone from 29% in 1987 to about 70% now. A thoughtful New York Times article says, “Recently, a survey of three decades of screening published in The New England Journal of Medicine found that mammography’s impact is decidedly mixed: It does reduce, by a small percentage, the number of women who are told they have late-stage cancer, but it is far more likely to result in over-diagnosis and unnecessary treatment, including surgery, weeks of radiation and potentially toxic drugs.” Another article talks about how “mammograms have done surprisingly little to catch deadly breast cancers before they spread. What’s more, the researchers found more than one million women have been treated for cancers that likely would never have posed a threat to their lives.” (link to the actual study).
Corporate media has become a handful of gigantic corporations that control thousands of newspapers, radio stations and magazines. The interests of big pharmaceutical and medical companies are exactly the same as the current corporate media, and they often share the same people in their board of directors. For example, Anne M. Mulcahy, the former CEO of Xerox Corporation, sits on the board of directors of both the Washington Post and Johnson & Johnson. As for Merck, its board of directors has Thomas H. Glocer, the former CEO of “Reuters” news agency. For the final example, consider Mayo Clinic: its Board of Trustees includes Tom Brokaw—the famous news anchor—and James L. Barksdale who also sits on the Board of Directors of Time Warner, the corporate giant that owns TV channels such as CNN, TBS, TNT, HBO; magazines such as Time, People, Fortune, Money, Sports Illustrated; and endless list of other assets.
The incestuous relationship between corporate media and other large corporations also plays a role in why they ignore or talk down the role of diet; pesticides, herbicides, additives in our food, and endocrine/hormone disruptors in cosmetics as risk-factors for cancers. Can parabens and other chemicals in shampoo, soaps and deodorants have anything to do breast cancer? Nah! Can organic food be better than GMOs or conventional food that is loaded with pesticides? Hard to tell! How about the fact that Syngenta makes a popular herbicide that can cause breast cancer by turning on an enzyme called aromatase while at the same time, Syngenta’s parent company makes Letrozole that fights breast cancer by turning off the same enzyme?! Sorry, we have to cover the NBA matches.
We live in a complex world where truth can be obscured by marketing, propaganda and profit motives. When it comes to health, people will be better off by questioning the mainstream hype du jour, doing their own research, and learning to trust themselves more.