Avellino Laboratory, a South Korean and Japanese company offering genetic testing for a disorder called avellino corneal dystrophy, has received CLIA certification to test patients in the US to determine whether they are carriers for ACD and should therefore avoid LASIK and other vision-correction surgeries.
ACD, an autosomal dominant disorder caused by a mutation in the transforming growth factor-beta gene, causes the slow development of cloudy deposits at the center of the cornea. This clouding is exacerbated by laser eye surgery and carriers of the mutation are at a very high risk of eventually going blind after having vision correction procedures, according to Scott Korney, Avellino Lab's chief operating officer for the new US lab.
Korney told PGx Reporter this week that because of the way ACD works physiologically — by causing the TGFBI gene to produce excess protein in response to corneal injuries — all genetically predisposed LASIK patients are at risk for some degree of vision impairment. Very few ACD-positive patients would be expected to survive LASIK and related procedures without eventual consequence, he said.
According to Korney, while the disease is estimated to affect about 1 in 900 people, the company has not yet studied the prevalence of ACD in the US population specifically and robustly. It has established that the mutation is present in diverse ethnic populations including eastern/western Europe, Africa, South/Central America, Iran and all parts of Asia.
Korney said that Avellino Lab has tested over 300,000 pre-LASIK patients, mostly in South Korea and Japan, and had identified a little over 301 cases of the disease. "We like to believe we've protected those people from being blind today," he added.
Avellino Lab was founded in 2008 to commercialize an ACD LASIK surgery risk test based on academic research into the genetic basis of the condition by researchers at Yonsei University in South Korea, led by EK Kim. The company is currently headquartered in Japan and has established its new US CLIA lab in Menlo Park, California.
"Since 2008 [the ACD test has] become the standard of practice in both Korea and Japan," Korney said. "In Japan, 80 percent of all people who have LASIK surgery are pretested for ACD. It's also become a substantial standard of care in Korea as well – where over 160 LASIK clinics use our test."
Now the company is planning to expand its presence to the US.
Korney said the company's California testing facility received CLIA certification at the end of last year and began testing patients in January.
The company is working now to educate patients about ACD and its conferred risk for LASIK and other procedures, and to close deals with ophthalmology practices and laser vision surgery clinics to use the test as part of their standard practice.
"We are trying to spread the word that this is out there, it's prevalent, and it's an important condition. It doesn’t always show itself in that first month after LASIK — problems can crop up anywhere from four months to 17 years — But it very much impacts the quality of people's lives," Korney said.
Korney said the lab has tested about 100 samples since opening for business at the beginning of the year.
"We have our first contracts with clinics, primarily in southern California, and are now in the process of negotiating contracts throughout US," he said.
According to Korney, the cost of the test is "nominal," though he did not provide a specific price. He added that most of the clinics the company is working with are "building the cost of the test into their package for LASIK." In other words, doctors are not charging patients for the test as a separate add-on, but are including it in the price of the overall LASIK pretesting procedure.
"If you were to look at the battery of tests in the ophthalmologists' office, they don't charge for each instrument or test that they use to look for dozens of indications as part of LASIK pre-evaluation … Our test will fit in with that," Korney explained.
The Avellino Lab ACD test uses a proprietary PCR-based gene amplification method, Korney said. When developing the test initially in the Asian market, the company performed a double blind clinical validation study on 300 individuals, and found that the test has 100 percent specificity.
In preparation to apply for CLIA certification in the US, Korney said Avellino evaluated another 2,000 samples, with the same 100 percent accuracy in identifying those with the ACD mutation.
While the company is mainly marketing the test as a tool to distinguish patients who should not undergo LASIK, knowledge of ACD carrier status can also impact other therapeutic or preventive strategies, Korney said.
For example, "there is literature showing a direct correlation between UV light exposure and TGFBI production," he said. "So, other than LASIK, we do say that if you know you are a carrier you should minimize exposure to sunlight."
"Also," he added, "from the optometrists' standpoint – there are a lot of different types of corneal dystrophies, at least 20 we know of, so we now give them a tool to begin to differentiate."