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Genetic Testing

Although more than half of respondents to Optometric Office’s recent poll indicated there is a strong interest among patients to know their genetic profile, respondents are still unsure of genetic testing’s place in optometry. However, there is growing interest in new genetic tests that can predict a patient’s risk for developing advanced age-related macular degeneration (AMD). But there seems to be a question of whether optometrists are qualified to do this type of testing, they are not genetic specialists after all. And what about those paranoid patients? Do doctors want to add to these patients’ phobia by telling them can expect to have poor vision? To gain a better understanding about the subject, below are comments from your colleagues about why they do or don’t incorporate a genetic testing model.


What’s the reasoning behind why you chose or choose not to implement a genetic testing model as part of your optometric care?

“Allows us to provide better care. Predicts possibility of developing wet AMD.”

“Do not know enough about it and if it has high enough specificity.”

“I don’t believe that currently there is appropriate evidence to perform genetic testing for AMD on people who are already known to have AMD. As treatments are developed that are genotype dependent, then it will be appropriate to test them. As it is, companies with genetic testing for AMD are targeting optometry, since ophthalmology does not see its value.”

“I do not know enough about it, I believe that it is expensive and I do not think insurance covers the cost of the testing.”

“Looking at a cost to benefit ratio—if a family member has ARMD then placing them on ocular vitamins containing lutein, omega-3, and zeaxanthin is sensible from a proactive prevention measure and periodic monitoring. If genetic testing was readily available and covered by insurance then it may be a better solution. As of right now, the testing equipment is expensive and the doctor must incur the cost of purchasing, and the testing is typically not a covered expense—the perception is that one is just selling a test to pay for a piece of equipment.”

“It is essential to provide the highest level of comprehensive eyecare to educate patients about new testing that is available, and may provide us with information to help guide their treatment plan and convince them to change modifiable behaviors (like smoking and diet) that can have a devastating effect on their vision.”

“I think we make better decisions when we are better informed (know more about the patient’s risk).”

“For patients with AMD, genetic testing serves as a ‘crystal ball’ into the patients future. Knowing genetic risk allows me to monitor those patients at high risk more frequently with technologies such as OCT and Home PHP. From the Anchor and Marina studies, we know early treatment of wet AMD is critical in preserving vision. Our practice has already saved vision in several patients with genetic testing.”

“Preventative care as well as genetic counseling for those having families.”

“Don’t know how to fit into the exam process, timing, and patient flow issues.”

“Don’t know how.”

“I chose to include genetic testing to provide my patients with cutting-edge technology in the diagnosis and treatment of AMD.”

“I don’t have enough information on the subject at this time.”

“Cost and necessity.”

“AMD is the leading cause of loss of sight as we age and the population is aging. In addition, we do a much better job of preserving sight in the second eye that converts from dry to wet AMD than we do in the first eye. If we could improve outcomes for the first eye, this could have a very positive effect on patients’ quality of life. Genetic testing allows me to stratify follow care based on one’s risk of AMD progression and the stage of one’s disease. It’s all about providing the absolute best patient care and preserving sight for life. I also hope to see more studies looking at the effects of nutritional supplements and treatment strategy outcome based on genetics. The very few that I have seen seem to imply that perhaps risk levels 3.”

“I have had no requests.”

“No trained personnel to conduct the testing.”

“I concentrate more on Vision Therapy.”

“For patients who may want some ‘future’ diagnosis of a potentially blinding disease—possibly knowing what an older relative has gone through, they may want either outcome positive or negative so to prepare themselves.”

“No knowledge of how to get started, no knowledge of reimbursement, not commonly covered at conventions at a benefit to patient care.”

“I have adopted a nutritional support model. Genetic testing gives a sense of fatalism to disease. I have seen many people with bad genes who live right do far better than those who have good genes who do life badly.”

“As we have embraced the medical model of Optometric Care, it is another tool/device and procedure that we’ve implemented to extensively evaluate our ARMD patients. It is the right thing to do!”

“To be proactive in patient’s ocular health assessment.”

“Should be done by genetic expert.”

“Do not know enough about it.”

“I was on board with genetic testing for a variant of glaucoma many years ago and it never caught on and I don’t know anyone doing genetic testing for glaucoma anymore. I think it could be a short lived fad especially when I don’t think there is a charge associated with AMD genetic testing.”

“I am a very part-time solo practitioner. I believe that genetic testing can be another health care tool for optometrists and primary health care practitioners. I do believe that in the near future as genetic testing becomes simpler to administer, more readily available and more cost effective, the demand for that testing will become more desirable.”

“Should not be part of optometry.”

“We are not sure if the cost is worth it to the patients.”

“Lack of insurance coverage.”

“Waiting to see the equipment cost.”

“To provide the best management and management schedule for the patient, all the information on a patient’s risk is needed. I have patients I’ve seen q 3 mos that now can be seen q6 mos and visa versa. It’s a great tool.”

“I’ve not studied the issue enough to make a decision about its importance in my office.”

“In 29 years I have been in practice, I have noticed a sharp decline in patient’s ‘mental status.’ Meaning, in generic terms, people are getting wackier. Do I want to add to that by genetic testing for AMD to tell a patient with an already fragile mental status that they can expect to have very poor vision? I don’t have the psychologist background, time, or patience to deal with the backlash.”

“I truly believe it allows me to intervene earlier and more aggressively and hopefully change the outcome of the patient.”

“What is involved, what is needed, what the studies show of predictability and what is the ROI.”

“I feel the more information we have can help in prevention and early detection of ARMD…before there is vision loss!”

“Not enough of a clear result. Same reason I lost interest in glaucoma genetic testing.”

“Recent info about testing not being accurate for certain races-groups means better refinement of test is necessary.”

“As much as many in the optometric community wish it were not true, the great majority of patients who come to see us, come to see us to either get glasses or contacts. I’m sure if they really wanted to get some genetic testing they would seek out some sort of specialist in that field.”

“No reliable and cost-effective testing to my knowledge.”

“For those patients who have a close family relative, knowing if they are predisposed to early onset AMD or any other genetically related disorder, taking preventative steps would be in order, i.e. if a parent had early onset AMD, taking ocular vitamin supplements at a younger age may be in order.”

“Don’t know enough about it.”

“AMD and the severity from it are based mostly on genetics and past/present lifestyle. The more people know, the more they can choose to help protect themselves.”

“Need to know specifics including third-party coverage, coding, and reimbursement.”

“Current tests seem to lack sufficient specificity.”

“I choose not to since I have had no training in this field.”

“With only one source for genetic testing, I’m not so sure of the quality. There needs to be more centers, a financial incentive, and more public awareness of the integrity of their health data.”

“People have an increased interest in understanding their risk. My patient population is highly educated/fairly affluent/ middle class and they expect their eyecare provider to be offering them cutting-edge technology. It lines up with my desire to be the premium eye care practice of the town!”

“It is important to know whom to follow more closely. Genetic testing is one tool to do that.”

“Too busy.”

“Current testing is not as specific as needed. New testing program to be done by my MD partner’s multi-specialty company will be released within months that will determine specific action plan depending on the patients treating. As an example, it will specifically identify glaucoma markers that doctors can use for planning appropriate treatment for that individual.”

“Never heard the option before.”

“I live close to a large research university and I question currently some of the tests on the market, but in the near future there will be credible tests available to allow for all types of ocular diseases to be treated through gene therapy. It is an exciting time to be following the rapid changes occurring in health care.”

“Not enough background knowledge/info.”


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