One of the biggest misconceptions that people have about their health is the role that genetics play. The role of genetics in health is one of my favorite topics and I have lectured about it extensively. (See my two part video on YouTube on The Role of Genetics in Longevity and How To Live to 100 at http://www.youtube.com/watch?v=dcmX4UFAyB4)
"My mother lived to 93," patients may say to me. "I expect to live just as long."
Other patients have said something like "My father died from a heart attack at 73 and I'm afraid I will die early too."
So here's the good and bad news for any of you who share similar thoughts, good or bad. For the most part, you are not your parents. That doesn't mean that you don't share genetic traits with them. It's simply means that given the approximately 25,000 genes now identified by human genomic researchers, the probability that you have the same exact genes and mutations as your parents, siblings, and other close relatives is highly unlikely, if not impossible.
The whole gene area is now under intense study. Hardly a week goes by without a new gene-disease connection being reported. With names like BRCA-1, BRAF and PKCS9, the scientific community is abuzz with the significance of these findings. They should be as it's a big deal.
For illustrative purposes, I'd like to share three of these gene-disease connections.
There was a lot of recent press about Angelina Jolie's decision to undergo a double radical mastectomy due to her having the BRCA-1 gene mutation. What many people do not know is why this mutation is connected to breast cancer. The mutation itself does not cause the breast cancer. Why? The answer requires knowledge of the role of a normal BRCA-1 gene, which is to repair damaged DNA.
Our DNA is constantly being damaged, both as a result of environmental factors (the study of which is called Epigenetics) like radiation and harmful chemical exposures and by believed random occurrences during cell division. These mutations, by their nature, can create cancerous cells. These fledgling cancers, however, are usually either destroyed by our functional immune system or the cells' DNA damage is repaired by genes that have that function.
A normal functioning BRCA-1 is one of the genes that aids in this repair. Those with one form of the mutation (there is a second form that over-repairs DNA including that of cancer cells destroyed by chemotherapy, thereby allowing the cancer to defeat the chemo) are unable to repair DNA damage that then leads to full blown breast cancer. In other words, people with this mutation can't easily avoid developing breast cancer because they are more vulnerable to cells growing into amass..
Not everyone with this gene develops breast cancer because the cancer development still depends on the degree to which their DNA is being damaged by lifestyle and other factors. (A good argument for living a healthy lifestyle.) Nevertheless, with a less than perfectly functioning immune defense system, they are at significantly increased risk.
(As an aside, in regards to the BRCA-1 gene, it turns out that my relative who is struggling against metastatic kidney cancer was found to have the BRC-1 gene mutation in the cancer. As a result, the treating oncologist decided to try a novel approach to this cancer that included treating it with a chemotherapeutic agent typically reserved for breast cancer. Amazingly, if not miraculously, the previously relentlessly spreading tumor responded and actually shrank a little bit. Although the jury is still out as to long term consequences, the news was unexpected and encouraging.)
Researchers have long known that aspirin therapy appears to correlate with lower rates of colon cancer. Recently, they discovered that it only works in people who do not have a BRAF gene mutation. Given that aspirin can cause serious side effects like bleeding and ulcers in certain people, this newly discovered information will help doctors decide who is most likely to fully benefit from aspirin therapy as the test for this gene becomes more accessible.
Today's New York Times has an article describing the race between major pharmaceutical companies to develop a new treatment for lowering cholesterol. Based on research of a gene labelled PKCS9, scientists discovered that people with such a gene mutation have lower levels of LDL, the bad cholesterol. Among two known cases where each individual inherited the mutation from both parents, the LDL reached remarkably low levels and the two individuals had no evidence whatsoever of heart disease. The pharma companies are fast at work at developing drugs to mimic the affect of the PKCS9 gene mutation.
This coming Fall, I will be giving a keynote address at the FAU Lifelong Learning Center on "Miracle Cures, Magical Pills, and Quick Fixes, Welcome to 22nd Century Medicine." My talk will center on some of the most promising scientific areas of research. Undoubtedly, the role of genes will factor heavily in the most significant advances to our understanding of disease and both its treatment and prevention over the next century.
At the moment, you can't pick your genes any more than you can pick your parents, but understanding the interaction of your genes and your lifestyle can lead to some good lifestyle decisions that may help you stay healthy. As I like to say to my patients, "Don't obsess about your genes, but don't ignore them either." In other words, what you do to your genes matters as much as what genes you have. Stay thirsty for knowledge my friends.
"My mother lived to 93," patients may say to me. "I expect to live just as long."
Other patients have said something like "My father died from a heart attack at 73 and I'm afraid I will die early too."
So here's the good and bad news for any of you who share similar thoughts, good or bad. For the most part, you are not your parents. That doesn't mean that you don't share genetic traits with them. It's simply means that given the approximately 25,000 genes now identified by human genomic researchers, the probability that you have the same exact genes and mutations as your parents, siblings, and other close relatives is highly unlikely, if not impossible.
The whole gene area is now under intense study. Hardly a week goes by without a new gene-disease connection being reported. With names like BRCA-1, BRAF and PKCS9, the scientific community is abuzz with the significance of these findings. They should be as it's a big deal.
For illustrative purposes, I'd like to share three of these gene-disease connections.
There was a lot of recent press about Angelina Jolie's decision to undergo a double radical mastectomy due to her having the BRCA-1 gene mutation. What many people do not know is why this mutation is connected to breast cancer. The mutation itself does not cause the breast cancer. Why? The answer requires knowledge of the role of a normal BRCA-1 gene, which is to repair damaged DNA.
Our DNA is constantly being damaged, both as a result of environmental factors (the study of which is called Epigenetics) like radiation and harmful chemical exposures and by believed random occurrences during cell division. These mutations, by their nature, can create cancerous cells. These fledgling cancers, however, are usually either destroyed by our functional immune system or the cells' DNA damage is repaired by genes that have that function.
A normal functioning BRCA-1 is one of the genes that aids in this repair. Those with one form of the mutation (there is a second form that over-repairs DNA including that of cancer cells destroyed by chemotherapy, thereby allowing the cancer to defeat the chemo) are unable to repair DNA damage that then leads to full blown breast cancer. In other words, people with this mutation can't easily avoid developing breast cancer because they are more vulnerable to cells growing into amass..
Not everyone with this gene develops breast cancer because the cancer development still depends on the degree to which their DNA is being damaged by lifestyle and other factors. (A good argument for living a healthy lifestyle.) Nevertheless, with a less than perfectly functioning immune defense system, they are at significantly increased risk.
(As an aside, in regards to the BRCA-1 gene, it turns out that my relative who is struggling against metastatic kidney cancer was found to have the BRC-1 gene mutation in the cancer. As a result, the treating oncologist decided to try a novel approach to this cancer that included treating it with a chemotherapeutic agent typically reserved for breast cancer. Amazingly, if not miraculously, the previously relentlessly spreading tumor responded and actually shrank a little bit. Although the jury is still out as to long term consequences, the news was unexpected and encouraging.)
Researchers have long known that aspirin therapy appears to correlate with lower rates of colon cancer. Recently, they discovered that it only works in people who do not have a BRAF gene mutation. Given that aspirin can cause serious side effects like bleeding and ulcers in certain people, this newly discovered information will help doctors decide who is most likely to fully benefit from aspirin therapy as the test for this gene becomes more accessible.
Today's New York Times has an article describing the race between major pharmaceutical companies to develop a new treatment for lowering cholesterol. Based on research of a gene labelled PKCS9, scientists discovered that people with such a gene mutation have lower levels of LDL, the bad cholesterol. Among two known cases where each individual inherited the mutation from both parents, the LDL reached remarkably low levels and the two individuals had no evidence whatsoever of heart disease. The pharma companies are fast at work at developing drugs to mimic the affect of the PKCS9 gene mutation.
This coming Fall, I will be giving a keynote address at the FAU Lifelong Learning Center on "Miracle Cures, Magical Pills, and Quick Fixes, Welcome to 22nd Century Medicine." My talk will center on some of the most promising scientific areas of research. Undoubtedly, the role of genes will factor heavily in the most significant advances to our understanding of disease and both its treatment and prevention over the next century.
At the moment, you can't pick your genes any more than you can pick your parents, but understanding the interaction of your genes and your lifestyle can lead to some good lifestyle decisions that may help you stay healthy. As I like to say to my patients, "Don't obsess about your genes, but don't ignore them either." In other words, what you do to your genes matters as much as what genes you have. Stay thirsty for knowledge my friends.
Skip the supplements and focus on a low glycemic, low fat diet combined with 45 minutes per day of moderate intensity physical activity (difficult to sing) to reverse the diabetes. a1c of 7 merits concern and requires immediate attention to prevent progression.
Dr. Cherlap, I am not sure why you advise "skip the supplements" when the review cited in my answer, from a mainstream journal published by the American Diabetes Association, cites sound research showing significant reductions in A1C in those taking a combination of chromium and biotin, and in those taking fenugreek, gymnena sylvestre, milk thistle or chia. Aloe alone reduces fasting glucose from an average of 250 to 142. These supplements are extremely safe and highly effective and when combined with a low-glycemic diet and exercise are likely to give significantly better results than diet and exercise alone.
Simply put, because none of these supplements are needed to minimize the ravages, slow the progression or reverse type two diabetes if a diabetic is eating a healthy diet and exercising properly. In fact, and i hope you agree,diet and exercise are the most important approach for diabetics Getting people to rely on pills when natural solutions exist is just plain misdirected.
By the way Dr. Baker, do you read the studies you cite? In the Diabetes Journal article it clearly states "The American Diabetes Association's official position is that there is inconclusive evidence demonstrating the benefit of chromium supplementation?"E nough said? Besides one can get chromium from food so why get it in a pill?
Stop pushing supplements.
Dr. Cherlap, I could not agree more that diet and exercise are essential foundations of diabetes care and there is no substitute for them. The bulk of my original answer above was advising Dr. Cousen's diet, which has very impressive results. However, many diabetics still have elevated sugars despite a healthy diet and exercise. The supplements I have mentioned are "natural solutions," herbs like cinnamon, aloe, and milk thistle, the trace mineral chromium, the vitamin biotin and the food chia seeds. My intention is not to get people to "rely on pills" but to use every safe and effective tool available to improve and enhance health.
Dr. Baker, My concern with your answer is that even though these compounds may come from nature, there are no conclusive studies regarding their proper dosing, their interaction with other drugs, their long term side effects, etc. Not everything in nature is safe, e.g. poison mushrooms and berries, and natural products that have a medicinal effect must be used with the same caution as a prescribed drug . Also, many of these products are accompanied by chemicals used to package, prepare, and dispense them that potentially carry their own risk factors. The real issue is you would never advise a patient you haven't met to take a specific prescription in such a forum; yet, you don't hesitate to tell them to take various supplements in combination without knowing their medical histories, other medications, etc. Again, just because something is natural doesn't make it safe and if it works as you suggest, then it's the equivalent of a prescribed drug that must be used cautiously and monitored.. Sugar cane, the foxglove plant, red yeast rice, white willow bark are all natural but their extracts at various doses can be quite harmful. Please stop the dangerous practice of recommending specific supplements to patients you don't know.
By the way, studies have shown the advantages of a pesco-vegetarian diet over a raw vegan diet, so Dr. Cousins approach may not be the healthiest. Are you a fan of fish oil in a pill or wild Alaskan salmon?
Dr. Cherlap, I appreciate your comments and agree with much of what you have to say. I could not agree more that just because something is natural does not mean it is safe. If you look at the original answer above I did not recommend any specific supplements for the patient, just referenced a review from a mainstream journal demonstrating the efficacy of a variety of supplements for diabetes along with advice to consult a holistic MD with expertise in such supplements. And yes, some of these supplements can have side effects and interactions with pharmaceuticals (though the patient who asked the question does not appear to be taking pharmaceuticals). One of the reason I feel it is reasonable to mention specific supplements in my answer here is that so few doctors know about these and I want patients to be aware of these options. One area where we disagree is the safety of over-the-counter nutraceuticals compared to prescription pharmaceuticals. While there are safety concerns with both, over 100,000 Americans die each year from the side-effects of properly-prescribed pharmaceuticals, and in recent years ZERO deaths have been reported from nutraceuticals. Are there probably a few people who's death was related to nutraceuticals but this was not recognized?- quite possibly yes. Are the hazards of nutraceuticals as a class anywhere near the hazards of pharmaceuticals? Not even close! Still, I do agree these substances should be used wisely and optimally under the guidance of a physician who is knowledgeable in such matters and it is unfortunate that most doctors receive virtually no education in these matters. I also share your concern about the safety of the additives/fillers/binders in drugs and supplements. That is one of the reasons I advise people work with a knowledgeable physician, for guidance in choosing the best quality supplements. As for Dr. Cousens, the only condition for which I recommend trying a raw vegan diet is diabetes, as he has gotten such impressive results. In general I am quite skeptical about the wisdom of a totally raw diet for most people and personally follow a primarily pesco-vegetarian diet myself. And I advise the raw vegan diet for diabetics only temporarily, feeling it is wise to go to more balanced diet after better control is obtained. Like you, I agree that it is always best to get nutrients from our diet when possible and wild Alaskan salmon is my favorite source of omega 3's, but for those who don't like fish (or can't afford it), purified fish oil pills (or liquid) is an acceptable option, though many (but not all) people can get adequate Omega 3's from flax or hempseed oil. Again. I appreciate your feedback. HealthTap is an interesting forum not just because of our opportunity to help the patients here but because of the opportunity to see the perspective of our fellow physicians and have discussions like this one!
Dr. Baker, I am always concerned when doctors quote the 100,000 figure of American deaths by prescription meds, first because it is represents an extrapolated estimate that has never even come close to being proven as true and second, and much more importantly if were true, it represents just .00002 (.0002%) of the 4.02 billion annual prescriptions that Americans received in 2011. In other words, for every 10,000annual prescriptions there may be one purported related death, which may or may not have been caused by the prescription and even if the prescribed was, the cause, the drug may have caused the death because it was the wrong prescription for the diagnosed medical problem and the patient therefore died because he or she was improperly treated, and not because of a side effect of the drug. As for deaths related to supplements, as you know, as there typically no records kept in any formal manner of supplement usage, it has proved very difficult to link deaths to supplements usage unless the death happened quickly. if the supplement contributed to the death over time,there would be no easy way to link them together. It took a good study to show the link between beta-carotene supplements and increased cancer risk. Smarter people than me have shown real dangerous links between many supplements and increased mortality. Forgive me if I say it would be disingenuous to state that any specific supplement is useful when the prevailing scientific evidence is inconclusive for that supplement. Chromium for diabetes is a perfect example. While I appreciate that reasonable people can disagree, the credible science continues to support very limited use of supplements in general. Even if doctors are over-prescribing prescription medications and some of these medications create serious adverse events, it is not a justification to advise patients about whom you know little to nothing about their medical histories to take supplements instead. Please stop giving such advice in this forum and limit it to your private practice where it is prudent to do so.
Dr. Cherlap, the 100,000 figure is on the FDA website. Quoting the FDA's own website: "Why Learn about Adverse Drug Reactions (ADR)? Institute of Medicine, National Academy Press, 2000 Lazarou J et al. JAMA 1998;279(15):1200–1205 Gurwitz JH et al. Am J Med 2000;109(2):87–94 Over 2 MILLION serious ADRs yearly 100,000 DEATHS yearly ADRs 4th leading cause of death ahead of pulmonary disease, diabetes, AIDS, pneumonia, accidents and automobile deaths" Again. all of the above is claimed by the FDA- see http://www.fda.gov/Drugs/DevelopmentApprovalProcess/DevelopmentResources/DrugInteractionsLabeling/ucm114848.htm As for my advising the people who ask questions here, the whole reason they ask questions is to learn about treatment options. If a diabetic asks what they can do to improve control, I will of course discuss diet, exercise and pharmaceuticals but feel I would be remiss not to mention over-the-counter nutraceuticals that are widely considered safe and proven effective in studies published in mainstream journals. I commonly discuss the potential hazards, side effects and interactions of supplements on HealthTap and do not see them as a panacea. I would expect people trying supplements to do so under proper medical supervision. If you disapprove of this then we will just have to agree to disagree on this topic.
Dr. Baker, Here are the actual citations for the 100,00 figure: http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6026a1.htm http://www.iom.edu/~/media/Files/Report%20Files/1999/To-Err-is-Human/To%20Err%20is%20Human%201999%20%20report%20brief.pdf
As you, and anyone else reading our comments, can read, the 100,000 number is an estimate and it includes many pain meds such as oxycodone as the cause of death, which is often an overdose. In response to your comment, "I would be remiss not to mention over-the-counter nutraceuticals that are widely considered safe and proven effective in studies published in mainstream journals. I commonly discuss the potential hazards, side effects and interactions of supplements..." When you say "widely considered," by whom? Other physicians? That is a blatantly false statement and you know it. Also, many of the journals, particularly the ortho-molecular journals, which commonly support supplements, are not widely respected by the physician community. Most physicians disdain supplements and for good reason, the least of which is their love for pharmaceuticals. As to your statement that you commonly discuss side effects, I saw no such discussion in regards to your diabetes recommendations. As you said, we can agree to disagree and let the facts speak for themselves.