a. How will this test help my patients?

Early / Intermediate AMD patients:
One in five (20%) individuals with early or intermediate AMD will lose vision as they age. Macula Risk helps to identify the ones who are likely to lose vision. Many published studies suggest that early detection and treatment can preserve visual acuity but most patients don’t present until they have some vision loss. Then it is too late.

The main treatment is Lucentis (ranibizumab). It works best when advancing lesions in your eye (retina) are small and just beginning. At that time visual acuity is beginning to deteriorate. The disease and loss of sight can progress quickly. Most patients don’t know it is happening until it is too late. Patients who are not actively engaged with an increased frequency of surveillance (as much as quarterly or monthly) as the disease progresses may lose their sight.

Wet AMD Patients:  For those with one good eye:
Macula Risk identifies high risk individuals. Ophthalmologists could consider monitoring the good second eye of high risk individuals with increase frequency. This might include OCT scans of the retina and Flourescein angiograms to catch the conversion of Wet AMD as early as possible – weeks can make a difference. The doctor can prescribe Lucentis (ranibizumab) earlier to save the most vision possible.

First Degree Relatives (Brother, Sister, Son, Daughter)
First Degree Relatives of AMD patients have a 50% chance that they inherited AMD risk factors from their parents. One in five (20%) of these individuals will lose vision as they age. Macula Risk helps to identify the 20% who will lose vision. Early detection and treatment can preserve visual acuity but most patients don’t present until they have some vision loss. Then it is too late.
The main treatment is Lucentis (ranibizumab). It works best when advancing lesions are small and just beginning. At that time visual acuity is not lost. The disease and loss of sight can progress quickly without knowing until it is too late. Patients who are not actively engaged with an increased frequency of surveillance as the disease progresses usually lose their sight.

b. What clinical action can be taken as a result of this test?

There is no cure for AMD. There is, however a very effective treatment (Lucentis, ranibizumab). Lucentis has been shown to prevent or arrest the advancement of ‘Wet’ AMD in 95% of patients. This treatment, capable of arresting AMD as the disease converts to the Wet form, offers the best result if you can receive the therapy when you still have most of your vision. ‘Wet’ AMD can take your sight in a matter of weeks or a few months without you knowing. Close monitoring of advancing patients is recommended to offer optimal outcomes.

Other opportunities include:
Lifestyle interventions: This may include smoking cessation, increased dietary antioxidant intake, control of blood pressure and BMI, use of UV-protective eyewear. Individuals who do not know their risk are unlikely to change any of these habits.

Eye Vitamins: Micronutrient supplementation according to the Age-Related Eye Disease Study (AREDS). Also note recent studies (2009) on Folic Acid, Vitamin B6 and B12.

New Therapies: There are many new therapies in development for AMD. Many have an efficacy profile that is linked to the genes measured in Macula Risk. As these therapies come to market, individuals identified as ‘at risk’ may find that they can treat the disease much earlier. Individuals ‘at risk’ should seek new information on Macular Degeneration on a regular basis.

c. Why don’t doctors just monitor everyone?

Monitoring presents a significant demand on the patient and on the doctor, especially as the disease advances in the ‘at risk’ individuals. The disease will require visits every three months as it develops – maybe more often. This is because vision loss can progress in weeks or in a few months. The main treatment, Lucentis (ranibizumab) has been shown to be 95% effective at arresting the development of ‘Wet’ AMD. If you want to save your sight, you need to make sure that you can obtain your referral visit to a Retina Specialist / Ophthalmologist at the very beginning of this end stage of the disease. Annual visits for advancing disease may not be suitable for most patients because the vision lost during the year will be irreversible.

Monitoring is expensive, especially as the disease progresses. The cost of imaging interventions and the frequency of visits will increase to once every three months. If the patient is at risk of vision loss they will need to recognise the demands on their time and the associated costs. If the patient is not at risk, they should not burden the system;

Patients ‘branded’ as ‘at risk’ and brought into a proper monitoring and disease management program may become stressed and/or depressed for no reason. This is especially true because 80% of patients will not progress to advanced AMD;

Patient compliance with visits, lifestyle interventions and with therapies will improve for patients who know they are at risk. If you don’t take the test, you will not be inclined to comply with the increased frequency of surveillance required.

d. Does the sample require special storage?

No. The patients DNA sample is stable at room temperature for at least 2 years. The instructions for packaging the sample collection device are included in the package provided.

e. Is Macula Risk approved by Regulatory Authorities?

Yes, Macula Risk^® is being provided to Health Care Professionals as a laboratory developed and validated genetic test. This is in keeping with regulatory guidelines for the medical introduction of laboratory developed tests under CAP and CLIA accreditation standards.

f. How accurate is Macula Risk^®?

DNA laboratory testing is very accurate. The laboratory service has validated the Macula Risk assay to a target of at least 99.9% accuracy.

The accuracy of the clinical prognosis for vision loss to advanced AMD has been studied. The predictive power of progression to advanced AMD was 83%.

g. How does a patient take the test?

Macula Risk^® is only available from an Eye Care Professional. The test is a simple cheek swab. The patient's sample is collected, the swab is placed back into its paper sleeve and then into the provided plastic bag for transport to the lab. The sample kit contains complete instructions for the collection of the cheek swab, completion of the requisition form and courier pick-up information.

h. How often does a patient need to take this test?

Each individual only needs to take this test once in their lifetime. Genetic predisposition does not change.

i. What is the turn-around time for running of the test?

It takes approximately 4 weeks for the test to be processed and the results to be sent back to the Eye Care Professional.