In the JournalsPerspective

AAO: Study backs recommendation against routine genetic testing for AMD

Gene variants that may predict development of age-related macular degeneration do not predict how a person would respond to anti-VEGF therapy, a study found. The American Academy of Ophthalmology said this reinforces its recommendation against routine genetic testing for AMD.

 “The Academy advises against routine genetic testing for AMD and other complex eye disorders until specific treatment or monitoring strategies have been shown in clinical trials to be of benefit to people with specific, risk-linked genotypes,” the AAO said in a press release.

A clinical trial analyzed 834 patients participating in the Comparison of Age-Related Macular Degeneration Treatment Trials. Each patient was genotyped for the four genetic variants — CFH, ARMS2, HTRA1 and C3 — that are associated with AMD. The researchers then compared genotypic frequencies to therapeutic response to Lucentis (ranibizumab, Genentech) and Avastin (bevacizumab, Genentech) after 1 year of treatment.

The study determined final visual acuity, change in visual acuity, degree of anatomic response and number of injections were not significantly related to the presence of one or more high-risk alleles, Frequency of dosing and whether patients used ranibizumab or bevacizumab also did not play a role, the study authors said.


Pravin U. Dugel

  • This study reaffirms the American Academy of Ophthalmology’s position that routine genetic testing is not advised at this time. Having said that, I think everyone would agree that the future of the diagnosis and treatment of macular degeneration and a number of other diseases lies in genetic testing. We are just scraping the tip of the iceberg right now and have a lot more to learn. We are not even close to being in a position of saying that we can intervene if we find something that may be genetically associated. While the promise certainly is there for the future, we have to be realistic about where we are at present. We have a group of genes that has a strong association, and that is all we have. We do not know if there are other genes — there probably are. We do not know about the interplay between environmental stressors and these genes. We do not know if these genes are markers for therapeutic response. Until we know those things, routine genetic testing is premature.

    The downside of routine genetic testing at present is that it can cause unnecessary anxiety, it can leave patients with promises that are not fulfilled, it may impact insurability and employability (despite the legislation that has been passed), and it may cause loss of funds. Unfortunately, there are some who stand to profit from advocating routine genetic testing without considering the patient’s best interests. While we should remain enthusiastic and wholeheartedly support legitimate research, I think the Academy’s recommendations are absolutely appropriate at this time.

    • Pravin U. Dugel, MD
    • OSN Retina/Vitreous Board Member
  • Disclosures: Dugel is a consultant for and minor shareholder in ArcticDx.