The greatest single medical advance of the 20th century was the introduction of antibiotics. The greatest single medical advance of the 21st century will be the clarification of human genomic disorders and the application of this information for disease prevention and more rational clinical therapeutic programs.
Validated medical evidence now confirms that genomics are the dominant factor in producing multilevel disc degeneration, with acquired physical insult and environmental factors being of lesser importance.
The 1997 science fiction film “GATTACA” explored a world where each newborn child was assessed with a complete genetic profile allowing prediction of the individual’s expected morbidities and expected mortality. How long will it be for geneticists and physicians to make today’s science fiction tomorrow’s reality? Today’s “Lewis and Clarks” are the geneticists of the world.
The first maps of the human genome were published in February 2001 through the federally funded Human Genome Project. This project identified 20,000 genes which were the backbone of human biology. These genes however were found to only constituted 2% of human DNA.
The DNA double helix is shown to the left (National Cancer Institute illustration). The remaining 98% of human DNA was isrespectfully tagged as being “junk DNA” at that time.
A international collaboration called Encode has now recognized that the great majority of this “junk” is actually biologically active and important. Efforts such as those by Encode (presently involving over 442 scientists) are in the process of creating genomic maps and signposts by which scientists and physicians, will be able to translate these data into improved health care.
In regard to the human spine the greatest headway to date has been made in regard to identifying those genes primarily involved in the creation of normal discal collagen. Congenital collagen deficiencies, particularly those involving abnormal collagen IX genes have now been found to be an important cause of genomic spine disorders.
While DNA extraction and coding for the alpha chains in collagen IX from samples of blood donated by patients with genomic spine disorders continues to progress at a number of centers throughout the world, it is clear that the age of “Gattaca” is still not quite just around the corner.
The present reality is that there are but a few clinicians who have recognized that the most potentially productive epidemiological research, from the standpoint of potentiating good public health and decreasing health care expenditures, is in the identification and prevention of genomic disorders and more specifically genomic spine disorders. It is unfortunate, but true, that the great majority of patients incapacitated by genomic spine problems today typically do not have a “clue” regarding the nature of their problem (and neither do their treating physicians).
This is a saggital MRI film is of a patient demonstrating a classic example of a genomic spine disorder. There is extensive chronic lumbar degenerative spine pathology with a large non-contained disc herniation at L5-S1 (red dot) which was the most immediate reason for this patient to require medical attention and surgical care. This was actually the third recurrent disc herniation for this patient at that very same site. This story alone confirms the fact that some chronic segmental dysfunction existed at the L5-S1 segment. Note that there is also the beginning of a disc herniation at the L4-5 level (green dot).
A careful observation of this MRI documents that there are vertebral endplate deformities at multiple levels. Such deformities are a characteristic of genomic spine disorders. Given the fact that discs are nourished by the diffusion of nutrients across the endplate (and not by a blood supply) it is clear that these deformities adversely effect disc health. Recent research published in the Journal Spine suggest that endplate deformities have a consistent association with disc degeneration and low back pain (Wang et al: Lumbar Endplate Lesions. SPINE 2012)
While patients with genomic spine disorders experience a significantly higher risk of not only disc herniation and spinal stenosis if they are non-smokers and maintain healthy backs in the great majority of cases the problem is self-limiting and self-healing. In the example above the L5-S1 disc interspace has progressive narrowed down and is in the process of self-stabilizing.
While specific genome determination and treatment tailored for the individual patient based on this information still remains in the future we do, at the present time, have quality high-resolution Magnetic Resonant Imaging (MRI) as an effective means of diagnosing these conditions at the present time.