Genes and Genetic Testing

Innovation in Genetic Research

Genetic factors play a major role in determining the risk of developing AMD and progression to late- AMD (GA or neovascular AMD). People with an affected parent have approximately twice the risk of getting the disease than someone whose parents do not have AMD. Large genome-wide association studies have identified over 30 genetic variants associated with the risk of developing AMD. Of these, genetic variants located at 2 loci – genes associated with the complement cascade on chromosome 1, and the ARMS2/HTRA genes on chromosome 10 – are associated with significantly increased susceptibility to AMD. It should be noted that the presence of these genes does not mean that one will inevitably develop AMD, rather one is at higher risk of developing AMD.

Genetic Testing

Genetic testing is available to assess some of the AMD risk genes. However as treatments are limited, and treatment choice is not affected by knowledge of an individual’s genetic makeup, it is still not widely requested by Eye Care Professionals today.

Nonetheless, understanding your risk profile for development of a disease can, and should, guide your lifestyle choices. Additionally building a registry of genetic information helps greatly in advancing research into the field and identifying potentially relevant targets for therapy development.With the advent of cheaper and faster DNA sequencing technology (currently the whole genome can be sequenced in a few days for USD $1000!), and information about the meaning of DNA sequence changes advancing, genetic testing should become a routine element of your diagnostic work-up. Additionally, knowing your genetic profile may allow you to enrol in relevant clinical trials and gain access to new treatments as soon as they come to market.