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Genomic Spine Disorders
Introduction

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 disease prevention and more rational clinical therapeutic programs.

It has now been confirmed that genetics are the dominant factor in producing disc degeneration, with acquired physical insult and environmental factors being of lesser importance (The 2007 Back Letter).  
 
Things To Come:  It will not be long before each newborn child will immediately have a complete genetic profile generated from a tissue sample.  The computer readout generated from this determination will, in most probability, be extensive.
  The 1997 science fiction film "GATTACA" directed by Andrew Niccol explores a world where the above has already occurred.  The socio-economic environment of this futuristic world is presented for the viewers consideration.  The potentially adverse consequences of this "advanced" biotechnology era should provide all of us with serious food for thought.


How long will it be for geneticists and physicians to make today's science fiction tomorrow's reality?  Geneticists are the "Lewis and Clarks" of today's world.  The first  maps of the human genome were published in February 2001.  Based on this landmark work many other groups including the federally funded Human Genome Project have labored to convert these maps into signposts by which geneticists, and then 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 genes involved in the creation of collagen IX.  Healthy collagen IX has been found to be one of the most important structural elements of a healthy disc.  Abnormal collagen IX genes are now being identified in patients and their cohorts.

While DNA extraction and coding for the alpha chains in collagen IX from samples of blood donated by patients with genomic spine disorders is presently in progress at a number of centers throughout the world, it is clear that the age of "Gattaca" is not just around the corner. 

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 with a classic example of a genomic spine disorder.  There is extensive pathology with the large non-contained disc herniation at L5-S1 (red dot) being the most immediate reason for needing prompt surgical care. This is the third recurrent  disc herniation for this patient at that very same site.  This story alone confirms the fact that segmental dysfunction or  instability exists at the L5-S1 segment.  Note that there is also a beginning disc herniation at the L4-5 level.
Patients with genomic spine disorders run a significantly high risk of not only disc herniation but also lateral spinal stenosis as well as a host of other infirmities.  If, however, individuals with conditions such as JDD are non-smoker and work hard to maintain healthy backs there is a great deal which can be done to keep them functional on a long-term basis.
Douglas Libby (name used with permission) is a excellent example of someone with classic JDD who has worked hard to maintain a healthy back.   He had surgical decompressions in 1983 and 1993 and did well.  In 2007 he again developed nerve impingement and will require additional
surgery.  For this patient the surgeries have been part of the process of keeping him vital and functional.  His surgeries have reflected an understanding of the basic disease process being addressed.

A prudent individual must look at their families and assess the incidence and prevalence of spine problems starting with family history.  Those with high exposure need to be screened at an early age.  Early "screening" and "preventive care" may come into conflict with the self-welfare of managed care organizations.  It is important for the motivated patient to not let this discourage them. 
 
SUMMARY

While genome testing and genetic treatment still remain in the wings and have not yet reached main stage center we do have quality high-resolution Magnetic Resonant Imaging (MRI) now readily available throughout the United States. 

Relatively low-cost high quality screening MRIs are also now becoming available at out-of-pocket prices at some imaging centers.   It is prudent, at this time, for parents of children having strong family histories of back problems and presenting with back problems during teen-age years to have a screening MRI study performed and read by a knowledgeable radiologist or clinician.  Even if this screening study is not covered by a third party payer it will, most likely, turn out be one of the the best investments a parent could make in regard to their child's functional future.