Genetic testing shows potential in pediatric ophthalmology
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Several applications for genetic testing in ophthalmology have been explored, ranging from keratoconus decision-making to refractive surgery screening.
OSN Pediatrics/Strabismus Board Members discussed the potential of genetic testing in ophthalmology for children.
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Robert S. Gold, MD: One important topic is genetic testing. We see a lot of children who have genetic issues. The question is, if you see a child who you think has a genetic issue, what is the next step? Are you referring to the pediatric genetic specialist? Are you ordering tests? Is it a combination? Is it a team effort?
I can give an example that happened to us. I have been following a family for quite a while, and we could not figure out what was going on with this 5-year-old. The parents had just had another baby, and the children were similarly photophobic. Our group of pediatric ophthalmologists was looking at these kids, and we thought that these children had achromatopsia. When we tried to get them into genetic testing, it was like pulling teeth.
We ordered genetic testing on these kids, and it came back positive. It was one of the first times in my career that I had actually ordered a whole genetic testing panel. We felt like we did the greatest thing for the family. This mother had been trying to get an electroretinography (ERG); in central Florida, we do not have that, and we have to send them to a university center. The mother and I were on the phone weekly trying to figure this out.
I would like to hear your opinions on this. I would not hesitate at this point to order testing, provide information to the geneticist, and let them take the ball and run with it. That is not something that I would have done a year or two ago.
Erin D. Stahl, MD: I think we have a pretty good setup. I work at a big children’s hospital that performs genetic testing and has a genetics department, and we have an embedded genetics counselor within ophthalmology. If I see a patient who I am concerned about, I can order an ERG, but I also involve the genetic counselor.
The counselor calls the family and gets a telemedicine visit set up, and then the family history and pedigree are done over the phone. If they feel like that child needs to see a geneticist, if they are dysmorphic or have other significant medical problems, which is a low percentage of those kids, then they will make the genetics referral. Otherwise, they order the testing under my name. I sign it, and then when the results come in, they call the family and discuss the results.
Then I get the results, and the report says, “I have communicated the results with the family. What would you like your follow-up to be?” I feel like that is a great use of our systems. We are not depending on the geneticists unless the genetic counselor decides we need them. They are in touch with what is free, what is not free and what is available through studies. Fortunately, it does not take much of our time at all.
Douglas R. Fredrick, MD, FAAP: We are lucky in Oregon to have a robust retinal disease clinic and program, but for the person in private practice, I think this is going to be an area of increasing peril. If you are not a geneticist and you agree to counsel and you make an error, you might think, “Oh my gosh, how much else have I missed in the last week?” Genetic testing may detect deletions and polymorphisms, but only a trained genetic counselor or geneticist can provide accurate information about the significance of those findings, for both the affected child and other family members.
I was talking with Stacy Pineles, MD, who explained that UCLA is opening a center for ophthalmic genetics and has dedicated resources to train ophthalmic geneticists. So, it is obviously going to be a larger part of our lives. If you want an idea of how much this is changing, look at the United Kingdom. There, a specific panel cannot be ordered. They do not order a cataract panel or an inherited retinal diseases panel. They get whole exome sequencing on everybody with a suspected genetic ocular condition, and the National Health Service is standardizing the testing and the results. I think that they are way ahead of us and what we should offer. We should at least work toward that future.
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