Embrace genetic testing now for the next generation
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For decades, molecular genetics has allowed researchers to identify links between specific genes and heritable diseases.
This ability would be particularly useful in glaucoma, a disease we don’t even diagnose until it has caused identifiable damage to the optic nerve. Developing predictive ability, though, will depend more on cooperative clinicians ordering tests than the technology itself.
As the cover story in this issue of Healio/Ocular Surgery News discusses, genetic testing is already capable of identifying about 20% of young children at risk for pediatric glaucoma, paving the way for more proactive disease surveillance and earlier intervention in some children.
In adults, more than 100 gene regions have been associated with primary open-angle glaucoma, but we don’t know much more than that. What is not fully clear is which gene combinations will associate with more aggressive disease and harder to treat pressures and, maybe most importantly, which treatments will be most effective for specific patients. In fact, today, adults with “aggressive” glaucoma are generally not identified until they have developed advanced damage. That shouldn’t be acceptable.
How will we make these associations between genetics and aggressive disease? This is where both clinicians and AI have to participate.
As a group, we doctors need to order genetic testing in more of our patients. This is challenging economically, as testing is not always covered by health insurance and may cost several hundred dollars. In the short term, the value of the test is less certain for the patient who already has a glaucoma diagnosis. (There may be greater value to undiagnosed family members, as I have previously written about keratoconus genetic testing.)
In our electronic health records systems is encoded information on each glaucoma patient’s level of disease aggressiveness, which treatments work best and what interval of follow-up is needed to manage the disease. Putting those disease characteristics together with each patient’s gene combinations is not easy, though. Just try to search your EHR system for a list of patients with “aggressive glaucoma.” ICD-10 has 12 codes for glaucoma and five subtypes for each, so theoretically, you could search by code, but how many clinicians take the time to accurately apply one of those 60 choices to each patient? And no code tells us which treatments were tried and failed for each patient with a combination of genes.
Only an AI engine can efficiently infer details about all the diverse elements in a patient’s disease course and create correlations with genetic patterns. It’s well within the capability of today’s technology, but again, the only part missing is the genetic testing information.
So, if you’re a clinician wondering why you should order genetic tests for glaucoma when there is currently only limited predictive power, think about not just your patient but also his or her children and grandchildren. The test you order today may give information to save their eyes tomorrow.
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