Ophthalmology in the post-genomic era

The year is 2019.

 Nature Genetics is no more, the genome project a distant memory. The heady days of cloning, sequencing, positional cloning, and candidate gene approaches are long forgotten.  The disease genes are now conquered.  While molecular biologists and geneticists gather before the job centre, their polymerase chain reaction machines are strewn in ever amplifying heaps behind now defunct molecular institutes. The phrase “an interest in ocular genetics” is now treated with derision where once there was only awed incomprehension: surgeons are restored to their position atop the ophthalmological hierarchy.  And still the patients come, ever aging, with their cataracts and their glaucoma, their maculae wet and dry. The production lines of phakos, trabs, and BD8s grind on and on.

An unlikely fantasy or a reasonable prediction?

We have learned, but have we moved forward? For all the wonders of the genomic race, for all the millions spent cloning disease genes, the clinical practice of ophthalmology has yet to alter radically. But what of the next 20 years? What will be the next scientific advances? More importantly how will they impact upon our patients? Who will fill the institutes and laboratories in 20 years’ time and, more pertinently for worried molecular biologists, what skills will they need? Whence the post-genomic scientists?

In recent times we have, perhaps inevitably, seen a somewhat reductionist focus on single genes and the Mendelian disorders they underlie. Our understanding of a wide range of disorders, affecting probably every ocular structure, has been enhanced by novel and often utterly unexpected insights into their causation and classification. We wonder at the unified aetiology of the stromal corneal dystrophies, the validation of Knudson’s hypothesis in retinoblastoma, and the bewildering array of gene defects underlying the retinal dystrophies. Even the complex field of glaucoma has at last begun …