This DNA test could save your sight

Advancements in genetic screening allow us to discover a lot about a person’s health. Technological advances continue to increase the speed and accuracy of this process, while the costs of obtaining an individual’s genetic information continue to fall.

This new specialty, referred to as personalized medicine, is crossing into various areas of medicine. Angelina Jolie’s much publicized decision to have surgery, for instance, due to her genetically determined risk of breast cancer. The gene data test she used was based on complex genetic markers (known as BRCA1 and BRACA2 genes) which provided a probability of risk.

There are many similar genetic tests and information emerging for the medical use but much of this data requires interpretation by genetic counselors and does not always provide clear answers. Further adoption of this new technology relies upon our ability to identify beneficial uses for the information available.

There is now a DNA test that identifies individuals at risk of complications from surgery. It provides diagnosis for a specific genetic mutation associated with the wound-healing process in the cornea at the front of the eye. When the cornea is exposed to high doses of ultraviolet light, or undergoes surgery such as laser vision correction, the body responds by producing wound-healing proteins to repair and maintain a healthy and clear cornea. However, in people with genetic mutations, these proteins collect and become opaque inside the cornea; this obstructs vision and leads to blindness.

Everyone should be tested, in particular people considering laser vision correction. The test has proven to be 100% sensitive and specific in clinical trials, it’s non-invasive, affordable – and results come back within 24 hours of the specimen being received at the lab. The test result tells the individual definitively if they have the genetic condition. If the patient tests positive, they know not only to avoid laser vision correction, but also to wear ultraviolet-light-protecting sunglasses to protect their vision long-term.

One example is of a woman living in Texas who is now nearly blind. She initially had laser vision correction in California, with a great 20/20 outcome that lasted for about four years, after which her vision began to deteriorate. At this point she tested positive with the DNA test and, for the first time, understood that her condition had been caused by the surgery. Had the genetic test been available at before she went for surgery, she would have had all the information she needed to make the correct decision.

The prevalence of corneal dystrophies around the world is not yet known. However, data from South Korea and Japan show this condition affects approximately one in every 1,000 individuals. No particular geographic or ethnic predilection has been observed.

Preventing people from undergoing damaging eye surgery represents a major advance in eye-care safety. Based on an estimated 3 million people electing to have laser vision correction worldwide each year, the DNA test has the potential to protect more than 200,000 people annually from vision loss. This would result in billions of dollars of savings on the cost of cornea transplants.

Personalized medicine has tremendous potential in the field of eye care. Genetic testing may one day help eye doctors select appropriate therapies for the early treatment of complex conditions, screen for blindness-causing diseases and, in the process, reduce healthcare costs.

At Avellino Labs, we’re continuing to develop new personalized genetic tests. We are focused on screening for specific gene mutations associated with known eye conditions and which yield insights that help physicians make good, fully informed choices about their patients’ medical care and lifestyle. What is most exciting, however, is the chance to offer patients a previously inconceivable level of safety in their care.

Full details on all of the Technology Pioneers 2015 can be found here. 

Author: Scott Korney is Chief Operating Officer of Avellino Labs, Menlo Park, CA, a World Economic Forum Technology Pioneer.

Image: DNA quantifications await further testing at Worestershire County Council Scientific Services in Worcester, central England, February 14, 2013. REUTERS/Darren Staples