The Omics Blog by Dr. James Weiss – Part II: Diagnostic Odyssey

 

The ‘diagnostic odyssey’ will be the first stop on our journey of how the science of genomics is applied in clinical medicine today.  This term refers to the extensive, heart wrenching journey that a family must go through to obtain a diagnosis when a loved one has a condition so rare that a myriad of doctors, medical centers and testing do not lead to a diagnosis.

Imagine having a child who has a rare condition, manifested as a physical deformity, mental disability or even a metabolic abnormality that could result in any number of problems.  This could mean that the child does not have the strength to play normally with other children or might even result in something so serious that the child is on a trajectory to a very early death.  Any loving parent would do whatever they could to find a cause with the hope of effective treatment, including taking their loved one on such a diagnostic odyssey.  This odyssey will almost certainly include many painful and costly procedures along the way.

Some people who have a very rare condition will have an abnormality of only one gene. In some this may be the first time this abnormality has ever been described in the history of medicine.  It is only with the advent of whole genome sequencing that finding such a small needle in such a large haystack is possible.  A sample of cells would be collected, either by a simple blood draw or cheek swab; the base pairs from all 23 pairs of chromosomes would be sequenced and then that patient’s DNA sequence would be compared to the ‘normal’ standard genome, looking for any difference(s).  If a difference is found a diagnosis may be made and the odyssey can end.  The best-case scenario is when this odyssey ends not only with a diagnosis but also with a treatment that can lead the patient to a more normal life.

An example of one family’s diagnostic odyssey is well demonstrated in this YouTube video.  Before watching please understand that in the end this is a commercial for Life Technologies, Inc., a company that I am in no way endorsing.  I have no relationship with Life Technologies, Inc. I am sharing this link because the story is compelling.

 

Read Part I here.

Read Part III here.

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