The IMO Foundation to study new genetic markers for predisposition to AMD

The IMO’s Genetics Department is to begin a genetic counselling programme to enable patients to detect their risk of developing AMD by means of a new DNA saliva test.

Dr Roser González, head of the Genetics Department of IMO, announced yesterday that IMO Foundation, which is dedicated to eye disorder research, education and prevention, will soon be commencing studies to identify new genetic markers for predisposition to age-related macular degeneration (AMD), the leading cause of blindness in people over the age of 65 in the Western world.

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As the geneticist explained, "70% of the risk of developing AMD is associated with genetic factors, which makes rapid progress in this field imperative." In a recent macro study conducted in the United States, in which 60,000 DNA tests were performed on 17,000 sufferers of the disorder, 19 genetic predisposition factors were identified. "Although this discovery is of great significance, as it, to a large extent, enables the number of people who are genetically predisposed to develop macular degeneration to be narrowed down, there is still a lot to be done, when you consider that 30,000 genes make up the human genome," González added and went on to conclude that "locating new genetic markers for predisposition to the disorder is one of IMO Foundation’s priority objectives." The specialist made these comments yesterday during a panel discussion on AMD that took place at IMO before an audience of a hundred or so patients and their family members.

During the event, Dr González also announced that IMO had initiated an AMD genetic counselling programme, through which geneticists and ophthalmologists will advise all of those who wish to find out about their risk of developing the condition and offer them the new DNA saliva test.

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As the specialist explained, "the results of the test, which will examine seven of the markers from the main genes associated with the disorder (CFH, CFB, C3 and ARMS2), will enable patients to be categorised into one of the four risk groups that standardise the test – very low, low, moderate or high – in order to determine whether it is necessary to start a process of prevention or early treatment, in addition to facilitating patient access to new gene therapies that are currently in the research phase." According to Dr González, patients categorised as moderate or high-risk can be between two and five times more likely to develop AMD than a person who does not have any risk markers. "The information will be extremely useful for predicting the clinical diagnosis of a disorder that is difficult to treat and alerting asymptomatic individuals," she added.

As well as genetic predisposition, other risk factors exist, such as smoking, the individual’s degree of pigmentation, UV radiation, diet and certain health problems, in particular, hypertension. According to the geneticist, "some of the main beneficiaries of this test will include patients who are in the early stages of developing the disorder, because objectively finding out their genetic predisposition will enable them to reliably predict how the condition will develop and help them react accordingly to significantly slow down vision loss." The new test is also aimed at other groups, such as relatives of AMD sufferers, smokers and people with obesity, hypertension and diabetes.