DNA-based testing for canine-inherited diseases continues to grow in its value to breeders, owners, and the veterinary community as new diseases and breeds are steadily being added to the roster of DNA tests available for commercial use. In addition to established DNA tests, there are also an increasing number of research programs focusing on identification of new mutations for specific diseases and investigators often enlist the help of breeders and breed clubs to assist with research sample acquisition.
OptiGen, LLC is a private company that has historically collaborated in academic research and we continue to work closely with a variety of academic investigators in this manner. OptiGen sponsors a Free Testing program for research samples wherein dogs affected with certain diseases, e.g., Progressive Retinal Atrophy (PRA) can be approved for free testing to determine if they carry one of the identified mutations. OptiGen is working together with many breed clubs to build useful sample sets for those eye diseases that still need molecular characterization. This year has marked a new phase in OptiGen's research capacity as we now have a full time geneticist on staff to conduct specific research studies.
OptiGen was established to make available Cornell University biotechnology, specifically in DNA-based tests for inherited forms of eye disease, most notably, PRA. The most prevalent type of PRA, progressive rod cone degeneration (prcd), is an autosomal recessive condition that has now been identified in over 20 breeds/varieties of dog. With a test based on the disease-causing mutation, a dog's status of Normal/Clear, Carrier or Affected can be determined with the highest degree of accuracy available in genetic testing. The frequency of prcd-affected status can be as high as 28% and the carrier status at 51% within breeds. Clearly, the prcd test is important for prevention of this blinding disease. For a complete up to date listing of the current breeds that have prcd see the OptiGen website, www.optigen.com.
Together with genetic tests for ocular diseases and other conditions, such as cerolipofuscinosis, narcolepsy and phosphofructokinase deficiency, OptiGen now offers DNA based tests for 18 inherited canine diseases in over 40 breeds of dog. Within the last year, OptiGen has added DNA tests for two new diseases, Familial Nephropathy (FN) and Canine Multifocal Retinopathy (CMR). FN is an autosomal recessively inherited fatal kidney disease found in English Cocker Spaniels. The FN test is based on work conducted by Dr. Keith Murphy at Texas A&M University and OptiGen holds an exclusive license in the US and Canada for this testing. CMR is a retinal disorder characterized by multiple, blister-like lesions in the retina. Two mutations in the CMR gene (bestrophin) were identified in research conducted by Dr. Gus Aguirre's laboratory at the University of Pennsylvania in collaboration with Dr. Bruce Grahn at the University of Saskatchewan. One CMR mutation is responsible for retinal disease in Coton de Tulears while the other mutation causes similar lesions in a group of giant breeds, including Mastiffs and Great Pyrenees.
OptiGen has recently allowed the use of cheek swab samples for most tests and we have found that this is an option that many clients appreciate. Although there are greater concerns about sample failure, cross contamination during collection, and misidentification of the animal with the use of cheek swabs (compared to blood samples), we have generally found cheek swab use to be successful. The greater ease and lower cost of collection and shipment of cheek swabs is making DNA testing more convenient and affordable for many clients.
OptiGen maintains an information-dense website to educate and update clients (www.optigen.com) and offers genetic counseling to clients and breed clubs. OptiGen also provides statistical reports on a regular basis to inform breed clubs and health registries of the percentage of dogs that are affected with or carriers of specific diseases. An increasing number of breed clubs are also requesting identification of individual dogs' test results and OptiGen has agreements in place with many clubs to allow this method of reporting. Some breed clubs, particularly in Europe, are requiring testing of breeding animals before any registration of offspring is issued and we can expect that this will help to greatly reduce the production of diseased dogs in the future.