The term “genomic spine disorders” is an important differentiation from other forms of genetic abnormalities.  It is being differentiated from the term  “congenital spine disorders” .  The latter has been typically used in the past to identify more apparent and better known focal structural abnormalities such as scoliosis and  spondylolisthesis.  In fact, the expression "scoliosis/ deformity" per se has come to represent a completely separate discipline of orthopedic surgery.

"Genomic spine disorders" is a term intended to describe more hidden, general, and diffuse abnormalities of the spine which are only now really being appreciated.  These conditions are typified by inborn collagen metabolic errors  as well as those involving multilevel endplate deformities of which Juvenile Discogenic Disease (JDD) is an example.  It is clear that all of these entities have some commonality but that determination must await the next step in biotechnical science relating to the elucidation of DNA, and how it works to be of more practical value.  Unfortunately, at this time, the clues to the presence of these commonly seen congenital disorders is in the hands of the more astute clinicians.  Simple good history taking is often the first step to appreciating spine disorders appearing frequently in family groups (but only when they are looked for).

The first publication specifically addressing the subject of a radiographically identifiable genomic spine disorder, Juvenile Discogenic Disease, appeared in the journal Spine in 1994. This entity was "discovered" because of the radiographic appreciation of certain characteristic spine endplate deformities frequently associated with advanced degenerative changes.  Although most attention has been focused on the lumbar spine it is now appreciated that these changes involve the cervical and thoracic spines as well.

While we bide our time waiting for better genetic testing the diagnosis of these genomic spine disorders will depend on accurately interpreting imaging studies such as MRI (although many of these abnormalities are evident on plain x-rays).  It is sad, but true, that very few radiologists, who read and report on MRIs, today are presently familiar with the literature on genomic spine disorders and typically then do not report this essential information to the physicians ordering spine imaging studies.  When they do pick it up, however, the physician (or the surgeon) reading the report often has no idea as to what the term means in regard to patient care.  Part of this challenge is beginning to better inform primary care physicians.

 Why does this sad state of affairs exist?  The most persuasive evidence is in the following facts:

 ■  50% of individuals presenting to a physician with back pain have an identifiable genomic spine disorder which typically is amenable to non-surgical spine care.

 ■  After psychiatric, psychologic, and drug-related costs back pain represents the single highest cost in our present health care system.

 ■  More spine fusions are performed in the United States each year than in any other country in the world.  The majority of these are performed in patients to treat low back pain, often as a primary therapy after physical therapy or chiropractic care.

 ■  The early identification and subsequent preventive care in genomic spine disorders could represent the single greatest saving in future health care expenditures in the United States.

 ■  More specific genetic analysis of DNA will be the single most important medical advance of the next century.

From a radiographic point of view the most discernable genomic spine disorder is that which has been labeled "juvenile discogenic disease."  The reason for this is the presence of characteristic endplate deformities associated with the advanced degenerative changes throughout the spine.