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Genomics pioneer says ophthalmology is ahead of the genetic pack
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CHICAGO – The study of genomics has reached a level in ophthalmology that is still only a distant hope for other medical specialties, said an expert in genomics speaking here
“Your field of ophthalmology is on the cutting edge of my topic, which is to emphasize how our understanding of the genome is beginning to impact the practice of medicine in dramatic ways,” said Francis S. Collins, MD. “Ophthalmology is leading that charge.”
Dr. Collins, the director of the National Institute of Health’s National Human Genome Research Institute, delivered the keynote speech at the opening session of the American Academy of Ophthalmology meeting.
He described an effort, known as the International HapMap Project, which aims to identify and catalog genetic similarities and differences and place all data in a public database. The six-country project, which has been under way for 3 years, will be completing its work within the next 2 weeks, he said.
This project’s first success story involved age-related macular degeneration, according to Dr. Collins. Using phase 1 of the HapMap data, investigators at Yale University were able to identify that a variant in a particular gene, complement factor H, is responsible for roughly half the genetic susceptibility to AMD.
“No one expected that. It set off an earthquake in the field of genetics that a single gene that nobody predicted would be involved in a single disease, and that a single variant of the gene, carried that much ... risk,” Dr. Collins said.
“In the space of just a few months, utilizing the HapMap approach, a disease that many weren’t sure was particularly genetic has been broken wide open by this approach,” he said.
Dr. Collins predicted that this same process will occur for many diseases in the future, in ophthalmology and other specialties.
“This will enable you to move into the ability to make diagnostic predictions about who is at risk [for a disease]. This is most interesting if you have a prevention to offer,” he noted.
Dr. Collins said that a new project of the National Eye Institute is creating a genotyping network to enable ophthalmologists to have access to certain research laboratories to obtain precise molecular diagnoses of particular eye diseases. The aim is to have this project operational by February of 2006, he said.