Genetics seems to have generated immense knowledge about various eye diseases. These findings include gene mutations, their effects, pattern of inheritancel etc. So, Is this the time to have ophthalmic genetics units in every ophthalmology set up? If yes, what would be its profile and how would it support the set up?
Twhile several other papers mention then importance of a genetic counsellor in such clinics. here are certainly research papers specifically on this issue in glaucoma (Netland, P. A., Wiggs, J. L., & Dreyer, E. B. (1993). Inheritance of glaucoma and genetic counseling of glaucoma patients. International ophthalmology clinics, 33(2), 101-120.) and retinoblastoma (Tomar, S., Sethi, R., Sundar, G., Quah, T. C., Quah, B. L., & San Lai, P. (2017). Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. PloS one, 12(6), e0178776.)
Apologies that half was through my answer (and before I had a chance to correct the typos!) it mysteriously sent itself into the ether! I was going to add that Moorfields Eye Hospital has a very active genetic counselling service and many other hospitals refer relevant cases to their main hospital genetic counsellors, but having one specifically assigned to ophthalmology would be very beneficial.
The role of the genetic counselor in an Ophthalmology clinic is to obtain detailed family history of the patient with eye disorder and to evaluate the possibility of genetic condition/syndrome affecting the eyes. Such disorders may be affecting exclusively the eyes - example are forms of retinitis pigmentosa, familial glaucoma, retinoblastoma etc. There are also congenital eye anomalies that are part of genetic syndromes that include manifestations in other systems. Examples are microphthalmia, eye coloboma etc. The counselor may determine that specific syndromic etiology should be ruled out and may organize appropriate genetic testing for the affected individual. The counselor also provides genetic counseling regarding the natural history of the disorder and recurrence risk for future pregnancies. Finally, the counselor may help provide prenatal/preimplantation diagnosis for future pregnancies of the family.
That brings us to question if MD/MS ophthalmology should have genetic counselling as a part of the curricullum? Or should a separate geneticist be running the genetic clinics in ophthalmology? Ideally both options are viable. But what should be course syllabus/curriculum for this training?
Most MD programs have some basic training in genetics, including Genetics in Ophthalmology. Most of the time such "general" genetic training is hardly sufficient to make an Ophthalmologist comfortable providing genetic counseling/testing. The most common current approach is to refer patients suspected for genetic disorder to be evaluated by clinical geneticist or genetic counselor as available. The professionals trained in genetics are usually comfortable dealing with any genetic eye disorder. However some Ophthalmologists are interested in genetic disorders and may receive additional training in genetics after their initial MD training. Typical genetic training programs are not specific for eye disorders, but rather provide general genetic training.
No. You do not have a genetic counseler in ervery ophthalomology department. But you should be aware of the literature, but do not overestimate it. Mostly there are polygenic effects with a rather small RR (relative risk). Good if you know theses susceptibility factors, but, again, do not overestimate them.
With my experience of 37 years genetic counselor I consider Milen Velikov is completely correct.
A patient may be referred for genetic counseling for a number of findings, but common indications include developmental abnormalities of the anterior segment that result in corneal opacities or glaucoma, bilateral juvenile cataracts, colobomas (incomplete closure of different structures of the eye), aniridia (absence of iris), retinopathies or retinal abnormalities, retinoblastoma, suspected connective tissue disorders, and unexplained vision loss.
You can benefit from the following links.
1. AmeeraBalobaid, AlyaQari,HamadAl-Zaidan,Genetic. counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia. International Journal of Pediatrics and Adolescent Medicine3( 1), 2016, 1-6
2. Drack AV, Lambert SR, Stone EM. From the Laboratory to the Clinic: Molecular Genetic Testing in Pediatric Ophthalmology. American journal of ophthalmology. 2010;149(1):10. doi:10.1016/j.ajo.2009.08.038.
3. Delphine Blain,; Brian P. Brooks.Molecular Diagnosis and Genetic Counseling in Ophthalmology . (REPRINTED) ARCH OPHTHALMOL / VOL 125, FEB 2007
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