di·ag·no·sis [dahy-uhg-noh-sis] noun, plural di·ag·no·ses [-seez]
1) Medicine a. the process of determining by examination the nature and circumstances of a diseased condition b. the decision reached by such an examination
2) Biology a. a determining or analysis of the cause of a problem b. an answer or solution to a problematic situation
You will find that a good dictionary defines the term diagnosis in two very different ways. The older definition of diagnosis is a process of determining by examination the “nature and circumstances” of a diseased condition, in other words, the way a condition appears to the examiner. A clinician may not know the cause because the scientific data is unknown or if the cause is known the examiner is unaware of it. The newer definition of the term diagnosis is a determination or analysis of the cause of a disease or malady. Interestingly some dictionaries divide these two definitions in terms of the professional training, as if doctors make diagnoses without ever knowing the causalities, and biologists – presumably more science-based – seek causal relationships to understand problems.
For instance, pneumonia was diagnosed as pneumonia since ancient times in terms of its “nature and circumstances.” When a patient appeared to suffer from labored breathing, sputum production, cough, fever, noisy breath sounds etc., a diagnosis of pneumonia was often made. Of course the clinician did not know what caused the appearance of such symptoms, but they must have noticed that it occurred frequently and it appeared to be transmitted to others after close contact with sick individuals, so I imagine they suspected transmissibility.
After science advanced a ways, and germs were discovered, eventually pneumonia was proven to be caused by germs. The term pneumonia is still used with an additional add on term describing its causal factor. Thus pneumococcal or streptococcal pneumonia is now used to define the disease from a causal perspective. The advantage to defining the cause then allowed treatments to be developed like antibiotics which targeted the cause and actually cured the disease. In the relatively prescientific era when clinicians did not know the cause of pneumonia, they were forced to provide palliative and supportive care instead of curative treatments.
If you ask most clinicians about the cause(s) of common chronic medical and psychiatric diseases which are not caused by germs, they would probably say that the cause(s) are unknown, and that the best we can hope for is palliative care which mostly boils down to drug therapies. Since the cause(s) are unfortunately not known, at least the symptoms can be modified with drugs, and sometimes radiotherapies and surgery as well.
Like doctors who treated pneumonia before the discovery of germs and antibiotics, the treatment of chronic disorders currently is thought to be unknown, so we are left with making do with palliative and supportive treatments. For instance, in the DSM IV, the diagnostic “Bible” used by psychiatrists, mental disorders are referred to as “heterogeneous” which means many causalities. Psychiatrists are warned to not mistakenly assume that they know the causes of mental disorders simply because they are establishing a diagnosis based on the behavioral appearance and symptoms.
The Revolution in Healthcare
The advent of functional medicine and genomics is as revolutionary as the discovery of germs which occurred over 100 years ago. While microscopes were needed then to peer down to see the tiny germs invisible to the naked eye, functional medicine and genomics focus the “microscopes” millions of times further down into the world of molecules. Conventional medicine studies this a little also and standard lab testing on simple basic molecular parameters is customary, but the “accepted standard of care” in medicine still emphasizes the older, prescientific definition of the term diagnosis, and mostly relies on establishing the diagnosis by the appearance of signs and symptoms. To the extent that molecular testing is ordered by the physician, it is supposed to be used to only confirm or deny a diagnosis determined by the history and physical.
Functional medicine and genomics, like the germ theory and all revolutionary advances in science, turns such older methodologies on their heads. Like a cardiologist who now relies more on what the echocardiogram tells them as opposed to the stethoscope, functional medicine and genomics is far more reliable than a history and physical exam for determining the cause(s) of chronic medical and psychiatric diseases and disorders. The history and physical are still important, but in my opinion these are only useful for getting a sense about the functional severity of an illness and how the laboratory-determined abnormalities are expressing themselves in each patient as signs and symptoms.
Notice I have referred to the science-based, causal perspective as “cause(s).” The revolution in medicine which emanated from the discovery of germs preceded the functional medicine and genomics revolution by over 100 years because it dealt with only one, simple type of cause – germs. Functional medicine and genomics will typically determine dozens of causal factors for the symptoms in each patient. There is no definition of the term diagnosis in the English language that describes a multiplicity of diagnoses.
However, cardiologists have nicely solved that problem for us by inventing the term “risk factors.” Because the number one symptom of a heart attack is sudden death (not chest pain etc.), cardiologists can’t dabble in making a diagnosis here or there, or treating a little of this symptom or that side effect. Cardiologists must back away from 11th hour medical treatments when possible, and define causative risk factors (i.e., high cholesterol, high blood pressure, positive family history, smoking and diabetes), in order to prevent catastrophes.
Functional medicine defines at least 30 more biochemical, nutritional, immunological, infectious, toxic and genetic risk factors for cardiovascular disease besides the usual 8 stressed by cardiologists. Functional medicine and genomics is poised to radically change medicine like the germ theory did, because it can define the causal risk factors for just about all diseases. When a careful search is made for hundreds of risk factors and they are carefully reversed or modified, the vast majority of patients get well. The term for this is “optimal genetic (or epigenetic) expression.”
Even categorizing chronic diseases as diseases becomes somewhat dated and historically obsolete. Instead, diseases are understood to be maladaptive symptomatic expressions of an individual’s non-optimal genetic expression, based on easily identified immunological, toxicological, infectious, metabolic, gastrointestinal, cardiovascular, physiological, nutritional, psychological (even psychospiritual) and genomic risk factors.
Naturally, practitioners who practice functional medicine and genomics must continue in the older, prescientific mode, conform to accepted standards of care, and drearily make diagnoses and even use drug therapies when patients expect them to. But now functional medicine and genomics imparts a new and exciting aliveness to the practice of medicine and psychiatry. Carefully devising treatment plans and witnessing one’s patients actually get well from impossible problems is fulfilling. I find it especially gratifying to witness what they go on to do for their families, their communities and the world after they have become pain-free, energetic and functional.
Functional medicine and genomics is not simply a revolution in healthcare, it’s the answer to the healthcare crisis. It’s the answer to malpractice problems because practitioners only need to prescribe a fraction of the medication they once did and they don’t have to worry as much about patient deaths and severe drug reactions.
I would extend a warm welcome to practitioners who are lost in the dark forest of conventional healthcare to join us and come out into the sunny meadow of functional medicine and genomics. Naturally you will need refresher courses in biochemistry, toxicology, immunology, nutritional science and genetics, so some effort must be applied. You may have to admit to patients more often that you don’t know what such and such an abnormality means, but you will bone up on it and let them know.
However, you can start slow, by offering your patients some simple tests, like testing for vitamin D or some minerals, and slowly building your repertoire. Or if you are specialized and interested only in some specific disorders, just begin amassing peer-reviewed information about well-studied risk factors for certain specific disorders.
The practice of medicine should be enjoyable and grateful patients will prompt you to become ever more proficient in finding the actual causes of their disorders and reversing them through risk factor analysis and treatment. Grateful patients also send referrals, which is a good thing because well patients don’t waste as much time in our waiting rooms. When the word gets around that this new kind of medicine can get unexpected results, and since it’s based on the best, cutting edge science, even your peers may be curious.