Genetic Testing

Our genetic makeup has a significant effect on our health throughout our lives by impacting our susceptibility or resistance to disease. Although AMD is a complex disease that occurs later in life with many environmental factors affecting disease risk, AMD and linked diseases have a significant genetic component.  

Our genes account for more than half of the risk of developing AMD. To date, researchers have identified 52 variants within 34 different genes that are associated with an increased risk of developing AMD. However, not all variants carry the same risk profile.

Two genes, in particular, account for almost half of the total genetic risk. At Gemini we are focused on those variants that present the highest risk and we identify those patients with genetic lesions that may have accelerated the patient’s disease course. Our goal is to match these patients with a treatment approach that directly addresses the underlying lesion and represents a precision-medicine approach that has not been applied to AMD and linked diseases until now.

Because we aim to identify patients who are at increased risk of disease based on their genetic background, genetics is at the core of our company’s approach to AMD and linked diseases. In order to understand each individual’s genetic risk profile, genetic testing is an important aspect of our drug development process. Fortunately, today genetic testing is simple, quick, and non-invasive for patients.

The genetic screening process for our CLARITY [SL1] natural history studies assesses all genetic regions (loci) shown to be associated with dry AMD, to date. Because of our in-depth assay approach, we can not only identify those variants previously reported but also determine those that are unique to an individual. 

The data from genetic testing allows us to determine which patients carry variants that may have contributed to their AMD disease status and who may benefit from a therapeutic intervention directly addressing the gene variant they carry. In addition, because of our broad screening approach that looks more deeply at these genes, we may be able to gain further insight into the reasons why AMD and linked diseases develop and provide other therapeutic options in the future.