Applying genomics can enable deeper understanding of eye disease

Chicago-We are living and working in a revolutionary time for biomedical research, said Francis S. Collins, MD, PhD. During his keynote address at the 2005 American Academy of Ophthalmology opening session, Dr. Collins shared his insights on how advances in genomics can be applied to the prevention, diagnosis, and treatment of eye disease.

“The opportunities for revolutionizing clinical applications in a whole host of fields-especially ophthalmology-are unprecedented,” Dr. Collins said.

As director of the National Human Genome Research Institute, Dr. Collins led a multidisciplinary, international cross-section of the scientific community to complete the Human Genome Project. With a database of genomes compiled, Dr. Collins posed the question: “What’s next?”

Dr. Collins’ vision for the future is to use the Human Genome Project as a foundation and apply it to help with the diagnosis, treatment, and prevention of a long list of diseases for which physicians currently do not have adequate understanding or therapy. That would enable physicians to use genetic information to predict what places someone at risk for a particular disease.

In addition to identifying some 400 eye diseases with hereditary components, genes have already been identified for complex traits, those that are not inherited in a simple form but which clearly have heritable factors involved, such as diabetes, and the common causes of cataracts or age-related macular degeneration, Dr. Collins said.

With such powerful information in hand, matters of ethics cannot be ignored. The public needs some assurance that genetic information could not be used against you, he continued.

“You didn’t get to pick your DNA, it shouldn’t be used against you,” Dr. Collins said. To that end, Dr. Collins reported that S.306 has already passed, and that H.R.1227 is now before the House.