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 Table of Contents  
EDITORIAL
Year : 2021  |  Volume : 9  |  Issue : 3  |  Page : 97-98

Personalized ophthalmology: Where are we?


Department of Ophthalmology, P.D. Hinduja Hospital and MRC, Mumbai, Maharashtra, India

Date of Submission13-Sep-2021
Date of Decision14-Sep-2021
Date of Acceptance14-Sep-2021
Date of Web Publication27-Sep-2021

Correspondence Address:
Barun K Nayak
Department of Ophthalmology, P.D. Hinduja Hospital and MRC, Mumbai, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2320-3897.326799

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How to cite this article:
Nayak BK. Personalized ophthalmology: Where are we?. J Clin Ophthalmol Res 2021;9:97-8

How to cite this URL:
Nayak BK. Personalized ophthalmology: Where are we?. J Clin Ophthalmol Res [serial online] 2021 [cited 2021 Dec 3];9:97-8. Available from: https://www.jcor.in/text.asp?2021/9/3/97/326799



It is a usual observation that some glaucoma patients never progress in spite of minimal treatment, whereas some patients continue to progress in spite of maximum therapy and attainment of very low intraocular pressure. This is experienced by many who are engaged in glaucoma management. It is also noticed that a particular medication results in a wide variation of efficacy and side effects. These observations point toward the fact that there exist many unknown factors affecting the outcome of any intervention. At present, the traditional treatment philosophy is “one size fits all,” as it is generalized after establishing a diagnosis based on the patient's history, physical examination, and laboratory data coupled with ones' own and the experience of others.[1] The recent thought process is toward an alternative system of “Personalized Medicine” also called “Individualised Medicine” or “Precision Medicine.” The purpose of this editorial is to familiarize ophthalmologists with this emerging field in ophthalmic care.

What is personalized medicine? The existing system of disease management presumes that all patients with a particular disease form a homogeneous group. Studies of biomarkers have proven this assumption as fallacious which has led to the conclusion that there is heterogeneity among that groups, as well. This also explains the variable response, efficacy, and side effects of the same medication with the diagnosis of the said disease. Based on the genetic and phenotypic study, a disease can be further stratified and the treatment based on this is termed as “Personalised Medicine.”[1],[2] This will lead to the choice of the right medicine for the right patient at the right time in the right dose with a better overall outcome.[1] Multiple biomarkers can be integrated into stratification of complex diseases, especially in cancer immunotherapy. The advantages of this approach are earlier diagnosis, targeted treatment with better outcomes, and accurate prognostication. This will surely pave the way for better counseling, especially of the inherited diseases.

Where are we? Ophthalmology has been among the early adopter of personalized medicine.[2] The eye has the added advantage of relative immune privilege and easy accessibility to monitor the success of treatment. Adaptive optics imaging is noninvasive and aids in the monitoring, even at a single cellular level.[3] Mapping of the patient's eye fluid drainage is possible now which can help us in developing micro-invasive glaucoma surgeries.[4] Some progress has been made in inherited eye diseases, retinal disorders, glaucoma, corneal diseases, and tumors.[1] Although a detailed discussion is out of scope in this editorial, some of the developments are mentioned here. Genetic testing in retinoblastoma has led to targeted therapy and definitely given us prognostic surveillance in infant relatives. Age-related macular degeneration is a major cause of visual disturbance in the elderly. Plenty of research has been conducted in understanding the pharmocogenetic biomarkers in this devastating chronic disease. Various different pharmacological therapies are emerging based on the stratification after studying the biomarkers. Retinitis pigmentosa, Laber's optic neuropathy, and retinopathy of prematurely are other retinal diseases, wherein the progress has been substantial. Gene therapy research is also being undertaken for gyrate atrophy, choroideremia, X-linked retinoschisis, Stargardt's disease, and Usher's Syndrome to name a few.[5],[6] It is intriguing to note that some medications are more efficacious in controlling glaucoma in a group of patients compared to others. Personalized medicine will definitely guide us more efficiently as regards the choice of therapeutic agents. MYOC-related glaucoma can be tailored based on an individual in future.[2]

Individualized medicine is not only the right choice of a pharmacological agent but also to find out the right doses and right route of drug administration.[7] Research is also conducted toward developing a novel method of drug delivery to the target tissue. Nanotechnology is being used for drug administration and dosage optimization. Various methods are being developed to correct the mutated gene by introducing alternate genes or correcting genes. Adeno-associated virus as a carrier is being utilized for this purpose.[5]

The potential of personalized medicine is tremendous and its application will get wider as time passes by. Needless to say, it is not without challenges. Physicians have to wholeheartedly adopt this new, yet complex system of which education and constant updation will be mandatory. A new mindset has to be developed. A lot of gene mutations identification facilities will have to emerge, providing easy access to the physician. The impact of variability of inheritance, incomplete penetrance and variable expressivity have to be clearly understood for accurate prediction in relation to genetic disorder.[2] There will be a need for substantial and ongoing research and definitive proof that genotypic-specific therapies are beneficial over the current approach. It will be a deterrent for the patients to undergo testing for diagnosis alone unless some positive interventions are possible. We also have to make electrophysiological tests more widely available, acceptable, and understandable. Furthermore, affordable diagnostic technologies need to be easily available.

Huge data analysis will require the use of artificial intelligence (AI) and machine learning and plenty of efforts need to be put in for its application and utility.[8] This will require a better data infrastructure. These will pave way for idea to algorithms, which will need robust clinical validation. Safe implementation and widespread use of the technology will automatically follow after that. Various stakeholders will be comfortable adopting the AI system for their patients, based on the demonstrable value. However, the system will not work if there is no support from patients. Educating and enrolling the patient as per their perception and understanding should be looked into so that they are ready to accept this technology. Finally, we have to demonstrate that AI system is ready to move from the laboratory to frontline clinical practice. At present, the path is not smooth and straightforward since testing guidelines, consent, and ethical issues also need to be addressed.

A huge financial support will be needed especially for “Orphan Diseases” and development of “Orphan Drugs.”[2] Although it appears that personalized medicine today has a huge potential, the cost of treatment, the ease of treatment, and its proven benefits have to be looked into and documented. There is a need for collaborative efforts among academic institutions, patients' and clinical network, regulatory authorities, commercial companies, and pharmaceutical industries apart from the whole network being cost-effective. United States' President Obama realized the importance of personalized medicine and budgeted US$215 million way back in the fiscal year 2016 toward this initiative.[3],[6]

In this editorial, I have tried to explain the concept in a much-simplified manner, with the hope that ophthalmologists would get some idea of “Personalized Ophthalmology.” I recommend to all readers to get their hands on various publications for further details on the subject. Although I can predict that personalized ophthalmology will be taught as a subject and become a standard practice in future and the present style of treatment will be just referred as history, what I cannot predict is exactly when in future this will happen!



 
  References Top

1.
Seyhan AA, Carini C. Are innovation and new technologies in precision medicine paving a new era in patients centric care? J Transl Med 2019;17:114.  Back to cited text no. 1
    
2.
Porter LF, Black GC. Personalized ophthalmology. Clin Genet 2014;86:1-11.  Back to cited text no. 2
    
3.
Precision Medicine Gets a Boost and Ophthalmology is Ready October 14, 2015 Rich Kirkner. Available from: https://ois.net/precision-medicine-gets-a-boost-ophthalmology-is-ready/. [Last accessed on 2021 Aug 07].  Back to cited text no. 3
    
4.
Applying Precision Medicine to Glaucoma. Sayoko Moroi. Available from: https://medicine.umich.edu/dept/ophthalmology/news-publications/annual-report/2017-18-featured-stories/applying-precision-medicine-glaucoma. [Last accessed on 2021 Aug 07].  Back to cited text no. 4
    
5.
Personalized Medicine: Impact on Retina Therapies. Review of Ophthalmology Thomas A. Ciulla; 2015. Available from: https://www.reviewofophthalmology.com/article/personalized-medicine-impact-on-retina-therapies. [Last accessed on 2021Aug 07].  Back to cited text no. 5
    
6.
Straatsma BR. Precision medicine and clinical ophthalmology. Indian J Ophthalmol 2018;66:1389-90.  Back to cited text no. 6
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7.
Ong FS, Kuo JZ, Wu WC, Cheng CY, Blackwell WL, Taylor BL, et al. Personalized Medicine in ophthalmology: From pharmacogenetic biomarkers to therapeutic and dosage optimization. J Pers Med 2013;3:40-69.  Back to cited text no. 7
    
8.
Hopkins JJ, Keane PA, Balaskas K. Delivering personalized medicine in retinal care: From artificial intelligence algorithms to clinical application. Curr Opin Ophthalmol 2020;31:329-36.  Back to cited text no. 8
    




 

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