Wherever I go my body always comes with me and as a doctor I am fortunate to know a little about what goes on. Anatomy showed me what I might look like inside. Microscopy led me further inside and let me understand the pathology. I learned about diseases. Unfortunately, the disease-friendly approach is now letting me down. The recurrent controversy about statins is just one example.
Medical practice needs to be focused on treatment and outcomes that relate to individuals and not our organs. As we travel to smaller and smaller places in the body we find that internal operations across sites are far more similar than they are different.
The micro environment can now provide the building blocks for individual treatments.
The human genome is represented in every cell in the body – regardless of organ. Molecular biological processes, too, are quite uniform eg proteins, cofactors, immune activation, motility.
Our unique imprint is within our cells. Between individuals there can be over 3 million genetic variations. Delving deeper into the microenvironment, the message gets more complex. Even when diseases are coupled with genes, eg breast cancer, it does not explain individual variations. The BRCA1 gene, results in breast cancer in only 50% of the people carrying it.
There are environmental factors which can trigger changes in an individual’s genes and not all of them are negative eg the high fat diet of the Greenland Inuit which precipitated their lipid tolerance.
Linking disease to genes provides a way to communicate with other clinicians, patients, family, payers, Big Pharma, world health and governments. It is just another form of diagnostic labelling increasingly unhinged from treatment. As clinicians who are entrusted with care of our communities we need to make sure the links to treatment and outcomes don’t get lost.
Just as the macroscopic view of the body provided the doctors of previous centuries with diagnostic assurance and a classification, the micro environment can now provide the building blocks for individual treatments. Measuring a patient’s metabolic state not just what has been encoded by the genome, but also what is modified by diet, environmental factors, and the gut microbiome will soon be a useful therapeutic tool.
More investment is needed in treatments based on variations in individuals not organs nor diseases. Many drugs discovered to treat one disease are now used in other conditions eg methotrexate and etanercept, started out as cancer treatments. They are now used to treat arthritis and skin conditions. With established drugs, eg antihypertensives, aspirin, acetaminophen, paracetamol and antibiotics, we already know that they work differently in each of us.