Richard G. Petty, MD

Mapping the Genes of Disease

Many of us have been wondering if the so-called genetic revolution is ever going to bear fruit? When are we going to see some practical benefit from billions of dollars and the years of research by thousands of scientists?

On December 13th 2005, Dr. Francis Collins, the head of the National Institutes of Health’s Genetics Program, announced a bold $100 million pilot project to try to begin to unravel the genetic makeup of some common cancers. The plan is to try and speed the understanding of the diseases, so that new treatments may be developed.

We have already discovered numerous genes that can play a role in initiating cancer: in causing a cell to become malignant, to keep it growing and then to spread. Some tumors run in families, but many do not. And even in families with strong histories of cancer, it is by no means inevitable that an individual will develop the disease. As I have said many times, "biology is not destiny."

This new program is to be applauded: understanding the genetic component of cancer is an essential step toward better treatment, but it is equally important to recognize that an understanding of the biochemistry of the disease is but one aspect of understanding it. We also need to consider environmental and psychological factors, which all come into play. I have known some of the more militant geneticists who insist that the whole of human health and wellness will be comprehensible in terms of genes: why some people smoke all their lives and do not get lung cancer, while some non-smokers die of the disease in the forties. Or why some people have high-risk cancer genes, but that these are balanced by genes that endow them with a robust psyche that prevents them from succumbing to the disease.

I have had endless discussions with some, and although I respect their position, I think that they have only half of the answer. One of the big breakthroughs in recent years has been the understanding that genes in the brain do not so much determine your personality, but instead they give you a predisposition to how you react to changes in your environment. Genes are a lot less fixed than we used to be taught.

So this initiative is great, but don’t think that it is going to come up with all the answers.

For this we also need to be aware of the psychological, social, subtle and spiritual aspects of illness. For it is by considering all of these and understanding that illness has meaning and purpose for us, that we can achieve health and healing.

Technorati tags: , ,

What's in Your Blood?

I am sure that you have seen all those credit card advertisements with the tag line: "What’s in you wallet?"

I was thinking about this a couple of days ago when I heard about the husband of a friend of ours who had been in a really nasty motor vehicle accident which left him with several broken bones. After a few days he started to develop problems with his breathing and the family noticed that he was bruising and hemorrhaging from his scars. Yet some of his lab values appeared to be "normal." Fortunately, I was able to offer some advice, and his recovery is now back on track.

But the case reminded me that many physicians have not been taught the value of looking at laboratory values as a whole. Too often we see computer-generated sheets that highlight the "abnormal" values. Yet this is not quite right. First, however good the equipment, laboratory values are never totally accurate. There is always an associated measurement error. This is like those political opinion polls where the expert tells us that the error is + 3%. So if candidate A has 47% and candidate B has 50%, you cannot tell who is winning. Maybe candidate A really has 50% and candidate B really has 47%. Let me give you two clinical examples. I have seen a young doctor who wanted to give someone a blood transfusion because their hemoglobin had fallen by one gram, without realizing that the lab error was + 0.5. So when I asked him to repeat the measurement, there had actually been no change. And I have seen countless people get worried because someone’s temperature has gone up by a degree or two, even though this is within the normal measurement error, and is, by itself, quite meaningless.

And that leads me to the second point: an elevated temperature, or a low hemoglobin, is simply a guide; it is one part of the whole gestalt that we use for diagnosing and monitoring illness. It is wrong to treat a lab value.

Third, when we look at lab values, we are interested in the overall pattern, rather than one result here or there. So I might have a sheet of results in front of me without a single highlighted value, and yet be able to discern a pattern that points toward a specific illness. An individual’s blood chemistry can tell an eloquent story: if you know how to read it.

A fourth point is that for many laboratory tests, there is no such thing as "normal." We use what are known as "reference ranges." Blood levels that have been measured on a lot of apparently healthy people, that are lumped together and used as average reference value for that population. Any deviation is regarded as "out of range," but it does not necessarily mean that it is abnormal. If we go and do another reference range in China or Africa, we may get entirely different results. I once dealt with a large number of patients from some islands in the Caribbean who had two apparent problems: many of them has been misdiagnosed with a condition called acromegaly, a condition in which adults begin to produce large amounts of growth hormone. It can be a nasty illness, and it was apparently responsible for the death of Earl Nightingale, one of the early leaders of the personal development movement. The thing was that amongst these islanders, elevated growth hormone levels were normal and caused no ill health. Second, many ran high levels of an enzyme called creatine kinase that is commonly used to diagnose myocardial infarctions or heart attacks. So we could not use the enzyme for diagnosis in these people unless we saw an extra big change. And that’s an important reason for measuring hormones, chemicals and temperatures: not just to get one-off values, but to monitor change. Once again bearing in mind that any measurement will likely have some level of inaccuracy associated with it.

This last point about reference ranges is exceedingly important. I have seen countless people who have been diagnosed with "subclinical" thyroid or adrenal problems because the treating clinician was not familiar with the interpretation of endocrinological investigations. In a later entry, I am going to discuss why many endocrinologists have become a little skeptical about so-called illnesses like "adrenal exhaustion" and "sub-clinical hypothyroidism."

Technorati Tags: ,

Addiction, Learning and Genes

Many of us have been mourning the death of George Best at the age of just 59. Arguably one of the most skillful players ever to kick a soccer ball, he finally succumbed to the slow suicide of alcohol abuse. Yet in the midst of all the opinion pieces that have tried to unravel the reasons for his alcohol abuse, all seem to have missed out on something very important. It has been missed because so many people have become wedded to the simple notion that there is one cause for one problem.

We have all seen so many television programs on which people have tearfully recounted the traumas that have befallen them, and we are then told that their current problems, whether of addiction, or of an inability to trust, or of serial infidelity, are all the result of having learned these behaviors, usually in childhood. So a person becomes an alcoholic because they saw their father drinking. An awful lot of therapy, and self-help is based upon that faulty premise. Why is it faulty? Because these people also share the same genes, and because, try as we might, we cannot reduce the whole of human behavior to ONLY learning, or ONLY genes. Most of the genes in the brain do not so much force you into behaving in a certain way; they instead predispose you to the way that you will handle something in your immediate environment.

So in the case of George Best, virtually all the tributes have said that the poor man become an alcoholic because he could not deal with all the fame, adulation and pressure that accompanied becoming soccer’s first real superstar. And doubtless, those were factors. But there is something else: his mother also died of complications of alcoholism, when she was 58 years old. Her drinking was attributed to watching her son succeed and then crash and burn. Possibly. But it is far more likely that it happened because they were both genetically predisposed to alcoholism.

When we try to understand a problem like this, it is essential not just to focus on the obvious cause: stress, or trauma, but also to look at the physical predisposition to reacting to the stress or trauma. Some people can be assailed by the most dreadful events, and come out smiling, while others have their lives ruined. It is also essential to look at the social context. George Best was brought from Belfast to Manchester when he was only 15 years old, and went home after two days because he was so homesick. He was persuaded to return to Manchester, and everyone tried to create a surrogate family for him, but it was obviously very difficult for him. It is also important to know that alcohol and substance abuse can cause havoc in the subtle systems of the body. That is why, when we treat people suffering form these illnesses, we encourage them to do some work, like Qigong or Yoga, to strengthen their subtle systems. Finally there is often a spiritual component to these problems. It is no coincidence that “spirits” as in alcohol and “spirit” as in spirituality, come from the same Latin root, in recognition of the ancient worship of the god Bacchus. Bill Wilson and Bob Smith recognized this link when they founded Alcoholics Anonymous in 1935. Many people who have struggled with addictions have been able to achieve sobriety once they discover and acknowledge the spiritual aspect of their lives, or in some cases that their substance abuse has been a reaction to a deep spiritual hunger.

Newsweek has an excellent article on the progress being made in our understanding of the physical components of addiction. The article highlights the complexity of the illness and the extraordinarily high relapse rates of sufferers.

There is only one quibble that I have with the article, and that is that it perpetuates the idea that substances of abuse hijack the “reward systems” of the brain. The reason why this is not quite correct is that it is a bit of a misnomer to talk about “reward systems.” These days we prefer to talk about salience systems. What does this mean? If something pleasurable happens to you, then the dopamine and GABA systems of the brain are indeed stimulated. And it appears that in substance abusers this system does not respond properly. So that they self-medicate because they have a form of sensory deprivation in these systems and that is the only way to get the dopamine levels that they need. But we now learn that dopamine also rises in the self same regions of the brain in response to threat. So what this system is doing is deciding what is salient, or important in the environment, and then focusing on and responding to it. It is these salience systems that seem to be under some genetic control, and can predispose someone to becoming a substance abuser.

Technorati tags:

The Rigors of Science: Finding Research You Can Trust

"All that glisters is not gold; Often have you heard that told."

This famous quotation from Shakespeare’s The Merchant of Venice, Scene 2, Act 7, is a suitable title for something that we need to discuss. I have been becoming more and more disturbed by the constant flow of advertisements and infomercials that attempt to buttress their claims by saying that "scientific studies have shown that…" When in reality the scientific support just isn’t there. How can such a thing happen?

The first thing is that reading scientific articles is a skill. Often when studies are being quoted, it is pretty obvious that some folk have only read the title or the abstract of the paper. Yet someone with experience of reading papers does not do that at all: they start with the sections of the paper describing the methodology. When I am looking at a research paper, whether it is on a new medicine, or on a study of intercessionary prayer, I will be armed with a pencil, notepad and calculator. Just because something has been published does not mean that it is true!

For more than five years I spent at least one day each week in some of the finest libraries in the world, trying to track down the original reports of odd or strange observations. I was doing this, not out of idle curiosity, but because I was determined to find out the truth behind many of the claims made in popular books and sometimes repeated in textbooks. What I found shocked me. Countless things repeated from one book or article to another had no basis. If you look hard enough you will find all sorts of reports that never stood the test of time.

In 1927 the Nobel Prize in Physiology or Medicine was awarded to the Austrian Neurologist and Psychiatrist Julius Wagner-Jauregg. The prize was awarded for his "treatment" of advanced cerebral syphilis by inoculating the patients with the organisms that cause malaria. It may be that the fever would have helped some of the symptoms, albeit transiently. But at what a cost! Over the years, good, hard working, compassionate health care providers around the world have done all sorts of things to patients that have turned out to do more harm than good.

Going back through my files, I have seen an astonishing number of reports in the media about scientific and medical breakthroughs that later turned out to be incorrect. That is okay: sometimes we advance by trial and error, but the trouble is that not everyone is aware that knowledge has advanced, and that yesterday’s ideas have been overtaken by new information. I was recently at a conference about a new form of treatment. A neurologist was explaining why it was safe and why certain side effects did not occur. The only trouble was that his explanation was twenty years out of date. He simply did not know that an old theory had been overturned by new research. He is a top-notch neurologist, but somehow the research had slipped in under his radar. It shows how difficult it is for even a professional to keep up with new information.

The problems of providing accurate information are being compounded in our Internet age, because of two issues. The first is premature reporting, and the second is the rapid promulgation of information, without checking. As an example of the perils of premature reporting, remember back to the fiasco during the 2000 U.S. Presidential election, when the constant desire of news programs to be first with the results, lead to some awful problems for the media.

There is an interesting example of the second problem. There is a beautiful quotation by Marianne Williamson, which begins with the words:

"We fear that we are inadequate, but our deepest fear is that we are powerful beyond measure. It is our light, not our darkness, that most frightens us."

If you Google it, you will find several hundred websites saying that this quotation was used by Nelson Mandela in his inaugural presidential address in 1994. Except that he did not. His office has confirmed that he never used the quotation. Yet the story continues to be spread. There are countless other examples.

These twin problems are constantly cropping up in reports of clinical trials. I recently had the privilege of contributing a brief article about the painstaking steps involved in getting to the truth about a new treatment. You can find it at: 

http://psychiatricresourceforum.blogs.com/

Taking single studies out of context, and not evaluating all the information in them, may sell a lot of supplements or books, but is just not fair to the public. It also makes it hard for us to trust information from the really high quality studies that are out there.

Technorati tags:   More blogs about Scientific rigor.

Some New Research on Acupuncture

Acupuncture has been in use for at least three thousand years and some evidence that our ancestors were first exploring this amazing form of healing seven thousand years ago. We now have several forms of acupuncture being practiced: Traditional Chinese, that operates on a system of yin and yang, of five elements, of Qi and channels along which it flows. It was this system that I studied in China almost fifteen years ago. There are many schools and styles of traditional acupuncture, and distinct forms of treatment have grown up in many parts of the Far East, including Japan, Korea and Vietnam. There is also something called “medical acupuncture,” that ignores the principles and precepts of traditional Chinese medicine, and instead focuses on stimulating tender spots and using simple “recipes” for treating people. This stimulation might be with needles, lasers of electricity. Both types of acupuncture have been subjected to a great deal of research.

It may be that medical acupuncture works simply by stimulating the release of endorphins, or modulating some other chemical transmitters in the brain and spine. But the situation with traditional acupuncture is more complex. Every competent practitioner has seen clinical responses that cannot be explained on that basis alone. I have personally treated people paralyzed by strokes, and have seen them recover far more than we would ever expect in Western medicine. Other odd things too, like the cartilage being restored in people with arthritis. The frustrating thing is that none of the treatments works every time. But when it does, it can be amazing.

Recent studies that have been published in major journals have extended the list of conditions that may improve with acupuncture to include:

  • Fibromyalgia
  • The side effects of HIV medicines
  • Arthritis of the knee
  • Overactive bladder in women
  • Itching associated with dialysis

On the other hand, I was surprised to see a large study of people with migraine, who failed to obtain much benefit. More than 20 years ago I reported good results using acupuncture for migraine at a conference in London. An esteemed colleague from Chicago immediately disagreed, saying that he had tried acupuncture and it had not worked for him. I think the message here is that it is not just the therapy, but also who is doing it.

Technorati tags:

Lupus Question

I had a very nice letter from a gentleman who posed the following question, which I have slightly edited in order to maintain confidentiality:

"A friend of mine, a 36 year old female has been diagnosed with Lupus.Healing by her doctors is not an option. Treatment yes. That’s not good enough. Any recommendations on how to heal it, who to see, what to read?"

It is always difficult for a health care practitioner to make precise recommendations about an individual whom they have not seen. That’s why we get so frustrated by some of the people who sell “cure alls” on their websites or infomercials. And when they are challenged say “but I’m not a doctor.” In which case, why are you giving advice??

Let me first say something about lupus. Systemic lupus erythematosus (SLE) is one of the so-called non-organ specific autoimmune diseases. What that means is that it can attack virtually any organ that has a DNA “command center.” And immune complexes can attack the skin, joints, kidneys, lymph nodes and so on. The autoimmune diseases show us how unwise it is for folk to advise us to “boost” our immune systems. SLE is an example of an overly boosted immune system. We should aim to balance our immune systems.

There is a lot of evidence that SLE has been becoming more common in recent years. Though we always have to be careful when we are told that an illness is becoming more common. That apparent increase may also be accounted for by other factors:

  1. More physicians may be becoming familiar with the illness: I saw this happen some years ago after I published an account of the first British case of a very rare type of headache. Within months, several other cases had been found. In each case doctors wrote to me saying that they had been treating the sufferer without success for many years, but after my report, understood what the problem had been, and, following my rules, had cured their patients.
  2. Diagnostic tests are becoming more sensitive, so more cases are turning up.
  3. Specialists are very good at changing the diagnostic criteria for an illness, or the level at which treatment is required: the “when is a difference a disease?” issue. Skeptics are forever saying that the only reason for doing so is so that drug companies can sell more drugs. But that’s a real misunderstanding: it’s actually the other way round. We change criteria once we have evidence that treatment may do some good. A good example is blood pressure. The levels at which we recommend treatment have been falling in recent years, because we now know that even minor hypertension can increase the risk of heart disease. Or diabetes mellitus, where the diagnostic blood sugar levels have been reduced for this reason: even small elevations of blood glucose increase the chance of damage to some blood vessels. It’s not the glucose itself that’s the problem, but the consequences of an elevated glucose level.

The reason for this preamble is this: if SLE is becoming more common, it is difficult to explain using conventional medical models. Some years ago, there was a report that more than half of all sufferers carried an organism called mycoplasma, and that this might be the cause of the illness. Nobody was ever able to replicate that finding, so the idea of an infectious cause is firmly on the back burner.

So let’s look at the illness from the perspective of physical, psychological, social, subtle and spiritual factors, for all come into play in someone dealing with SLE. The key to treatment is to have a healing synergy between all of the interlinked aspects of our lives.

On the physical front, conventional medicines have a great deal to offer, but as you said, for treatment rather than cure. They are also used to help protect organs against damage. One potential reason for the increase in the prevalence of SLE, is that there is a close link between the amount of fat in the abdomen and the production of some classes of inflammatory mediators. So question one: does the sufferer have an excess of intra-abdominal fat? If yes, diet and much gentle exercise as the illness will allow. What kind of a diet? Balanced, and following the principles which I outlined in the final part of the Healing, Meaning and Purpose.

There have been countless reports of people with SLE and other forms of inflammatory arthritis, especially rheumatoid, having food sensitivities particularly to dairy or to alfalfa. The research base is weak, but it is always worth exploring. There has been growing interest in the use of DHEA and foods high in omega-3 fatty acids. Some people have also reported some benefit from Vitamins C and E, and selenium. The treating physician can help with doses. There are also some herbal and homeopathic remedies that may be helpful. I quite like The Arthritis Bible by Craig Weatherby and Leonid Gordin as an overview of some of these approaches.

Next is psychological. Sunlight, stress, fatigue and lack of sleep can all make the condition worse, and I would urge the person to follow some of the plans that I outline on the CDs and in the book. An awful lot of people suffer from illnesses like this as a consequence of psychological factors. So it is a really good idea to use the approaches to see if there are any emotional, cognitive or relationship problems which have triggered or are perpetuating the autoimmune process.

Next is the subtle systems that underlie the physical and psychological. These may need to be re-programmed using acupuncture, or Reiki, or Thought Field therapy, or even high potency homeopathic remedies.

Finally the spiritual. I cannot over-emphasize the importance of this in all our lives. Again, I have made some suggestions in the program. It would not be right for me to tell others what or how to practice, but keeping in touch with, and strengthening the contact with your spiritual essence provides a wellspring of healing energy and support.

There is a final point that I would like to make. Not all illnesses can be made to disappear, and sometimes our focus has to change to one of helping the individual understand, learn from and coexist with the illness.

Who to see? Any health care professional that will respect all five domains, and help the individual to help themselves.

Now, back to you: does that help?

+ Are there others out there who would like to share their experiences?

Technorati tags     

logo logo logo logo logo logo