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Clearly assess the status of genetic medicine in eye care for your patients
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 Michael D. DePaolis |
Arguably, the Human Genome Project (HGP) is the most ambitious undertaking in modern medical science. Conceptualized in the mid 1980s, the HGP sought to identify and map the roughly 3 billion nucleotide sequences comprising the 20,000 to 25,000 genes of the human genome.
Largely funded by our federal government, the “sequencing” work was conducted at various universities and research organizations, both in the United States and abroad. Initiated in 1990, the HGP developed quickly and, in 2003, President Bill Clinton announced that the human genome “map” was complete.
As clinicians, many of us anxiously anticipated the completion of the HGP. We fully understood the primary goal was to better understand the genetic makeup of humans. By better understanding human genetics, the inference, of course, was that we would better understand disease processes. In short, the HGP would provide a clearer picture of how genetics “drive” certain diseases, how mutated genes “derail” normal metabolic processes and – therefore – offer insight into better disease management.
While the HGP is, undoubtedly, helping us unravel the mysteries of certain diseases, it is a complex and exacting science, a science that requires patience and perseverance … on everyone’s behalf. It is here where we play a critical role.
As primary eye care providers, our responsibility, first and foremost, is to provide the most comprehensive care possible. This might very well range from discussing risk factors and treatment plans for one patient to tempering expectations for another patient.
The latter is especially important as it relates to the HGP. As is often the case, the media portrays emerging technologies in an especially optimistic light. The HGP is no exception, as the media has occasionally given the public the impression that gene therapy is here and now.
What we can offer patients is a more realistic assessment of the HGP as it relates to eye care. It has provided a clearer understanding of certain types of glaucoma, retinal disease and macular degeneration, affording us the ability to identify at risk patients at an earlier stage.
It has also identified certain environmental risk factors known to influence the phenotypic expression of disease, thereby allowing us to better counsel patients. In short, the HGP has affected the way in which we manage certain diseases today.
Where the HGP leads us from here is anyone’s guess. While both gene suppression and gene therapy show promise, each has its own set of challenges.
That being said, I am confident the HGP will spawn a wide array of therapies, both genetic and pharmaceutical. In the interim, we must embrace what we have learned, be patient as further developments evolve and keep patients well grounded.