I’ve recently re-read this article from October’s Discover magazine, an extremely interesting read concerning genetic influences on developmental delays.  It was interesting enough that I wanted to comment on it here.  Unfortunately, the article is behind a pay wall, so I’ll first summarize a few of the more intriguing points, and then follow up with my comments.

The author, Mark Cohen, a developmental pediatrician, specifically describes comparisons between the developmental problems of a boy with velocardiofacial syndrome (VCF) and another boy with DiGeorge syndrome.  The boy with VCF was brought to Cohen’s clinic at the age of 2½ before the mother knew that he had VCF.  The child had begun demonstrating moderately severe delays with speech, language, and learning generally, and she didn’t know why.  Cohen was able to diagnose the boy’s VCF by using additional medical information that does normally require a trained individual to diagnose.  This diagnosis was later confirmed by genetic testing.  The mother was not only relieved to discover that her son’s problems were not her fault, it was now possible to more adequately devise a future plan of treatment.

This all got Cohen to thinking – and specifically, remembering a boy he’d once treated who had DiGeorge Syndrome, a much more serious disorder that usually presents with multiple medical issues and more severe mental retardation.  He got to thinking about it because both VCF and DiGeorge Syndrome are caused by chromosomal deletions occurring on the exact same chromosome location.  In fact both of these syndromes are referred to as 22q11.2 deletion syndrome, despite that the patterns of abnormalities they present with are often quite different.  The two syndromes have very similar causes, but result in far different outcomes, only because in the severe syndrome slightly more genetic material is missing.  DiGeorge Syndrome has historically been far easier to diagnose however while VCF has not.

The implication here is that there must be countless other cases similar to this first boy’s with now diagnosable genetic conditions, which are going undiagnosed.  Anybody who works in special education knows that some children just respond well to a certain amount of extra help that other children just don’t respond as well to. There are so many children that we just don’t know exactly what’s going on.  Without adequate information, conjecture must often take a more overly predominant role in therapy planning.  Sometimes teachers suspect that the root of a child’s issues are occurring because of that child’s home life, while other times members of the planning team know that something unidentifiable is amiss.  When I was in graduate school many years ago, we were taught the phrase “FLK” for “funny looking kid,” which while definitely not politically correct, at least underscores the issue here.  These were children that everybody suspected had genetic causes to their developmental delays that were just impossible to know for certain.

Times have changed dramatically in our abilities to now figure these things out.  However, in the United States, at least, the cost continues to prohibit.  This New York Times article does a great job of spelling out the issue – basically, companies that perform these tests are extremely vigilant in patenting, reducing competition so that they can charge whatever they want.  These companies do point to what they consider comparably high costs elsewhere, especially Europe, and there are definitely other factors that muddle this, such as overall infrequency of testing, and labor intensiveness, which also work to drive up the costs.  The bottom line, though, is that for people of monetary means, this testing can provide extremely valuable information unavailable to people with less disposable income – and that includes children.  And it seems as though there are solutions that can drive down the cost of genetic testing, such as having governments essentially buy the patent, opening up the market for competition.  It will be interesting to see how this plays out as yet another possible instance (such as the convergence of mass media, campaign finance, U.S. health care, Wall Street, etc.) of one group’s money interests conflicting with what seems to be the greater good.