And … “Why genomic testing seemed like a good idea at the time.” by Mary Louder, DO.
Genomics, precision medicine, epigenomics …. Are they buzz words? The next med fad? Could this help me better serve my patients? If you are like me, these questions have tugged at the back of your mind. Until recently, they were internal musings never spoken aloud or considered for my practice. That has all changed. But before I tell you why, I’ll share some of my mental gyrations when I am working with a patient:
Brain Dump Scenario Number 1 Before Genomic Testing
“Chromium, maybe that is the answer? … After all, chromium is known to treat diabetes because of its insulin enhancing mechanism in the skeletal muscles and adipose tissue. The patient had been told they had diabetes, but truth be told, but they were actually pre-diabetic, so the chromium would help for sure. But, in the end, it did not make much difference, some, but not much.”
“So … perhaps the answer is exercise. If we increase muscle mass, the metabolic rate would increase and the prediabetes would quell. Again, not too much change. So, we could add a tincture of metformin. WHAM, blood sugar plummeted, HgA1C was normal. The patient will feel well and we will have a ‘cure’ YAH Me!”
“But then again, chromium and muscle mass is a better way to go than metformin. Maybe, we could use berbarine, a supplement that is very much like metformin. Hmm, I wonder if that would work?”
And on and on it goes.
Wake Up Call
This scenario, and variations on the theme, had literally gone around and around in my head for years. I have to find the right combination of treatment options that clicks for my patient.
Another way to approach is to simply throw the kitchen sink at the patient, or the spaghetti at the wall and hope something sticks and thus works. Patient often come to me after they’ve experience this dirty dish or pasta on the wall approach. It often leads to at least a dozen different supplements with a series of follow on diagnostic tests. Then every three to four weeks, the patient and physician switch out supplements and drugs in response to the results de jour.
Don’t misunderstand me, diagnostic tests have their place in the armamentarium of integrative care. Supplements, homeopathies and tinctures are part of this arsenal. I am far from skeptical regarding natural medicine and holistic care for patients. In fact, I am more skeptical of my own profession as an Osteopathic physician. If you read my webpage, you will see that I scorn upon a pill for every ill and I firmly believe that our health journey is a part of our sacred walk as humans.
So, where is the rub, the confusion and the conundrum? It is that I kept thinking there must be more, what do I not understand about this individual? What am I not “seeing” in this patient in their history, exam and test results? The problem was, in puzzling scenario described above I was using “conventional holistic wisdom.
Segue to the unseen part of the construction. The blueprint or genomics. If you look at the finished product of the human body, unless there is a major structural or functional issue, all looks well. Why? We don’t see the blueprint, but rather we see the result of the blueprint in the finished product – the patient standing before you. In a sense, as physicians, we see the building after the ribbon cutting, with all its wonder and errors.
Here is what I learned since my AHA moment about genomic testing
The blueprint is the genomic testing. Now when I see a patient, I am given a series of SNP’s (single nucleotide polymorphisms), pronounced “snips.” The SNP’s are literally everywhere within the respective patient’s schematic diagram.
They provide options of what could be, given the right circumstances. Another way to say this is, the SNP’s are not inevitable, but while they are present, they respond in an on/off manner depending upon the environment they are exposed to. The SNP’s are the expressions that could be depending upon enzymes gone missing, co-factors that are lacking or toxins that overload the system.
They are the great “what if’s” in the perfect storm of life. I would even venture to say that the SNP’s are an associative clue when “healthy” people get cancer or have a heart attack. If we look, the SNP’s are all there. They are clues that direct how the body responds to various internal and external factors.
How often have you found that both you and the patient think are doing the right thing, but in fact, you have prescribed the exact opposite of what could be therapeutic? I know that frustration as a physician and as a patient. It’s frustrating and honestly a bit maddening for your patient to hear (or think privately) This might be what they are hearing from you: “Try harder. You obviously don’t get this. Or you must not be following directions.” These decrees can be some of the most frustrating to hear as a patient. And Lord knows, I have even uttered these same words after a patient leaves my office.
Not too long ago, I was looking for a change in this repeating pattern of thinking and communicating. I was over the whole concept of the patient not trying or something just not working. So, I actually gave up. It’s hard to admit this, but I did. I surrendered my frustration to the Universe. I trusted the premise that we actually live in a benevolent world but that it is conspiring with us to succeed and be happy. At that time, I was exceedingly frustrated as a physician.
So, as the story goes, I was minding my own business, mired in my frustration, when a patient presented me with a three hundred-page test result of her genomics. WHOA! What was all this data?
Mind you, I knew why the patient had gone to the expense to get the test results – a breast cancer diagnosis. I was skeptical, I had seen some genome tests years back and I was not convinced they were all that good. I couldn’t get past the mounds of tests that came afterwards and then the mounds of supplements that followed the tests. A great business model to be sure, but I doubted that we were getting to the bottom, or the blueprint, of the issue.
I even went so far to tell the patient: “Well you probably have poor detoxification pathways, even poorer estrogen metabolism pathways and some kind of mitochondrial issue.” The evidence supported a well-known diagnosis of a near life-long autoimmune disease. I also surmised, she would have the gene for “no gluten or dairy.” Some of my assumptions were correct, others were not.
There were further clues within the genomic profile that suggested emulsified Vitamin D or even injectable Vitamin D rather than capsules. The patient also needed a specific type of B-vitamin (active form) because the blueprint showed a MTHFR SNP (and yes, the suggestive acronym isn’t lost on my patient for all the trouble it has caused). There were other indicators that the patient did not produce glutathione efficiently. When all came together, I could see how these unknown areas contributed to a “systems failure” throughout the body for both breast cancer and autoimmune health consequences.
It was exciting to use all the information and data points in combination. The blueprint for her whole system was tied up in one teeny, tiny circle of various metabolic pathways that had a far more reaching effect than I could have ever imagined. That was AHA moment number one.
Then, I reverted back a bit and focused intently (even a little OCDish) with the supplement types, dosing, measuring and testing. Surely, this was the right approach, individualized targeted repletion. While that may be partially correct, I was missing one really important step; the stress response. My patient was still exhibiting quite a bit of a post diagnosis stress response. She was navigating the health care system to try to build her own integrative care team (a part time job in itself), she was rearranging and rethinking her career, and as importantly, she was intently working on achieving authentic relationships with her family and friends to achieve a more balanced life. Cancer can do that.
All of this outward effort in “acute healing” in response to her diagnosis left her depleted in an emotional and spiritual sense. She needed to transition from an overly active phase of treatment and immediate healing from breast cancer surgery to a relaxation response for authentic healing. And, when I looked deeper into her genomic profile, there were SNPs that pointed to cognitive and stress response issues. It was all there, I had to get out of my own way and weave the genomic data with the symptomatic evidence. Welcome, AHA moment number two.
This process was a lesson for both patient and practitioner. What do we both learn by knowing the deepest level of information about her genomic blueprint? Step one, we identified and navigated the SNP’s by using proper nutrition, supplements and exercise. But there is so much more. Ultimately, this case represented the ideal application of the mind-body approach – neural plasticity and understanding the body has the inherent capacity to self-heal.
Neural plasticity because the epigenetics are not “set in stone”, they are flexible, moldable, healable. Ultimately, the body is self-healing, so understanding our blueprint pushes us onward towards that quest.
When we know a patient’s genomic profile, we are not only replete with tools for good nutrition, supplements and exercise, but we can also meditate the genome. With diagnostic evidence, positive affirmations and genomic SNP’s, we can balance the body’s ability to work in harmony as enzymes fall in to place and the biochemical pathways begin to function as they were intended.
Now imagine this? What if we literally approach our blueprint and visualize an amazing healthy body attuned in mind, body and spirit? I actually think that is the answer. We can quite literally build and rebuild the body with acceptance of our genome and support of its perceived shortcomings in a cellular, emotional and spiritual sense.
This sounds, feels and is actually quite dramatic. For some of my patients, the knowledge we gain by examining their genomic tests has been (dare I say) miraculous. By understanding the why of illness and wellness, there is a shift in perception, from fear to love and awareness. As a physician, I have felt that shift. I no longer fear that I missed something or misunderstood a test result. For the patients, the shift occurs when they better understand the how and why of who they are in sickness and in health. Using genomic testing has dramatically changed the direction of my patient care. The care is individualized and patient outcomes are more systemically better because of this holistic approach.