Genomic Disorders Introduction

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 for 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 promptly be provided with 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 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).

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.

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 required surgical decompressions in 1983 and 1993 and did well. In 2007 he again developed nerve impingement and will require additional decompressive surgery but not a fusion.

For this patient minimally invasive decompressive surgeries have been part of the process of keeping him vital and functional.

A prudent individual must look at their family history and assess the incidence and prevalence of familial spinal problems. Those with a high risk factor need early "screening" and "preventive care" even though such may come into conflict with the self-welfare of managed care organizations. It is important for the well motivated patient to also become well informed regarding their spines.

SUMMARY

While specific genome testing and genetic treatment still remain in the future we do have quality high-resolution Magnetic Resonant Imaging (MRI) now readily available throughout the United States as the most effective present means of diagnosis .

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.