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REDIRECTING PRECISION MEDICINE

Medicine is only as good as the biological underpinnings that support it. Change the biology, and you are forced to change the medicine. You can see this happening as new biological findings gradually work their way into university biomedical curricula, continuing medical education courses used to update physicians, and pharmaceutical, nutrition, public health, and public safety conferences. Of course that can be a slow, torturous process before we as patients see any tangible benefits. Changes are happening in medicine today. But are those changes actually aligned with our latest understanding of fundamental human biology? To the question of “Are we there yet?” my answer is a resounding NO. The most recent medical initiatives remain rooted in a fundamentally flawed concept of human biology. That flaw is the premise that our mammalian genes drive our health most significantly, and much of medicine remains wedded to that premise. Even recent major initiatives are more status quo than meets the eye.

In this new era of the microbiome, there is a massive gap between what we know about human biology and how human health is managed in westernized medicine. That gap needs to be closed soon so medicine can look more like the ecological management of a coral reef than something akin to trying to smother a forest fire with a small blanket.

Recent changes in medicine, while well-intentioned, are largely misdirected. Two new medical initiatives that are changing the playing field are “personalized medicine” and “precision medicine.” You may have come across one or both of these terms in some context. Essentially, they are two parts of the same initiative to orient health care toward the individual. A focus on the patient as a unique person rather than just one part of a larger population appears to be the inescapable future trend in medical care, and that is a very good thing. But with these new medical initiatives, the devil is in the details when it comes to how personalized and precision medicine are focused practically. In this case the problem is what is meant by “the individual.” You could easily assume it means all of you, the whole individual, a holistic view of you as a unique superorganism. But the reality is it means a form of medicine that remains focused on a very small portion of you: largely the minority, human, mammalian genome.

Personalized medicine as a conceptual force arose around the beginning of the twenty-first century, although the foundations for it go back several decades. It emerged on the heels of the Human Genome Project and focused on the idea that minor mammalian genomic differences (estimated at only 0.9 percent) among humans were vital to our better health. If only we could treat according to these individual chromosomal differences, we would better personalize our medicine. The intentions were good, and the goals were to achieve cost savings while providing better medical solutions. Of course, remember the previously discussed, inconvenient fact that the Human Genome Project resulted in grossly underwhelming results from what had originally been anticipated.

Precision medicine is largely an extension of personalized medicine, and many use the terms interchangeably. Precision medicine was launched as a US initiative in January 2015 with a presidential announcement followed by a prominent joint announcement in the New England Journal of Medicine by the head of the National Institutes of Health and the former director of the National Cancer Institute.

Similarly to personal medicine, precision medicine emphasizes the individual variability of your genes, environment, and lifestyle exposures, and the use of that information to improve disease prevention and treatment. The initiative emphasizes using lots of data, or what has been called “data-intensive biology,” as a way to see trends in diseases and treatments and how all of the pieces fit together in the individual patient. In effect precision medicine will link your genetic, environmental, and biological information to your electronic health records.

The near-term focus of precision medicine is on a single disease category, cancer, and in particular the identification of human mammalian genes that drive the development of tumors. A second priority is the use of networked technologies and social media for better patient diagnosis, treatment, and care and to respond to an increasing trend of Americans wanting to engage medical researchers as active partners. Not everyone sees precision medicine as a magic elixir. Among the criticisms of this practice is that it forces a very reductionist view of human health. If the keys to better health are not where precision medicine happens to be focused, that’s a big problem.

Of course there is one glaring weakness in the personalized medicine/precision medicine strategy, and that is the heavy focus on the human mammalian genome. The problem is right there in the numbers. We are focusing our medical initiatives on only 1 percent of our total superorganism genome. The math is easy. It means focusing medicine on fewer than one-hundredth of all our genes. Something is very wrong with this picture.

If our microbiome has approximately 99 percent of our genes and is readily adjustable, why would we focus on what is less than one-hundredth of our genes just because they happen to be sitting on our mammalian chromosomes? What about the 99 percent of us residing among the microbes of our gut, airways, or skin? Add to that the problem that the gene switches (epigenetics) control much of the activity of the genes on those mammalian chromosomes, and it would seem that we might be gearing up to look in the wrong place for future medical solutions.

To be fair, the precision medicine announcements do include a mention of gut microbes and the potential importance of fecal sampling and individual analysis of the patient’s microbiome. But this seems more like an afterthought for future data collection than a primary focus of this new medical initiative. The stunning impact of the human microbiome project has been left largely out of the latest medical initiatives. But that does not mean things cannot change as more and more patients and physicians embrace their true biological nature.

Despite the mammalian-centric focus of precision medicine, many in medicine, including drug companies, the allied health industries, and physicians, are not ignoring the microbiome. Between 2014 and 2015 alone, I presented at a wide spectrum of biomedically related conferences involving pediatric MDs, OB-GYN MDs, autism researchers and clinicians, the pharmaceutical industry, nutrition and food company representatives, probiotic researchers and clinicians, birth defects scientists, and health and safety overseers. It was an interesting personal challenge to prepare lectures for groups with such widely divergent concerns. However, the common denominator for all of these conferences was the microbiome. Even sessions at these conferences not specifically dealing with the microbiome tended to drift to this topic once the Q&A session began. It is the 800-pound gorilla at biomedical conferences, and it is soon to be that gorilla in doctors’ offices.

If your health care providers are not talking with you about the microbiome and asking about your intake of probiotics yet, it is likely they will be by the time of your next annual visit. It is not something to be ignored. Among many reports of its kind, a recent Los Angeles Times article detailed recent progress on the microbiome that will enable doctors to both fingerprint you based on the microbiome and make designer adjustments to your microbiome. It is becoming apparent that few doctors are going to want to be practicing twentieth-century medicine as we move further into the twenty-first-century era of the microbiome and human superorganism.

Part of any prognostication about when, where, and how medicine will soon become truly holistic and treat the entire human superorganism involves the patient. In a sense medicine is still a service industry. Physicians provide a service and you are their customer. If antibiotic overprescription in doctors’ offices can be linked to pharmaceutical representative visits, then patients’ expectation of leaving the office with something, such as a prescription for antibiotics, is also a factor. But turn that around and consider patients beginning to expect microbiome-based medicine to be a part of the visits. Think about patients expecting doctors to inquire about or evaluate their 99 percent, their microbiome status.

The patient-doctor nexus generates a powerful social force, ultimately driving the landscape of medicine, and you play a key role in this. Take, for example, recent information from the Arthritis Foundation on the patient-doctor visit. They emphasize that during a standard eighteen-minute visit of a patient to a primary care physician in the United States, doctors have a checklist of things to accomplish. Patient preparation and prioritization is critical and impacts eventual satisfaction. If doctors are expecting to tackle approximately three to six patient concerns during the visit, it is important that we as patients are setting that agenda. By focusing the doctor on the issues we personally want addressed, we are more likely to leave the office with a plan in place that satisfies everyone.

Any treatment plan needs to be a collaborative effort. When you, the patient, are involved in your treatment, you’ll be more satisfied and have a better health outcome. According to the Arthritis Foundation, your doctor will also be less likely to generate unnecessary tests and referrals.

The status quo in medicine is neither acceptable nor sustainable. In the beginning of the book, I introduced the present epidemic of chronic diseases more recently called noncommunicable diseases. We all have them or know someone who does. But the problem is that modern medicine as currently practiced has few answers for the epidemic of these chronic diseases. If it did, the prevalence of these diseases would be noticeably reduced. People would be cured. Instead, more and more medical treatments and drugs are required by more and more patients.

We will continue to be thwarted by natural disasters within our own bodies and the continuing NCD epidemic until we treat humans as an ecological system to be personally managed from cradle to grave and across generations. The new biology considers the thousands of species that are a central part of who we are. It considers the gene switches (epigenetics) as a key element in our developmental programming, health, and well-being. It is time for this new biology to move precision medicine toward the more useful path of superorganism medicine. Such changes bring some uncertainties but also a completely new strategy for protecting human health, treating diseases, and ensuring human well-being. You as the patient are a superorganism, and any medical strategy should cover all of you, including your microbiome.