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Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia

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Abstract

Genetic counselling (GC) provides information to the patient and the family to make informed choices. Among the advanced Western countries and a few Asian countries, there are certified or trained professionals who perform GC. The Human Genome Project and next-generation sequencing diagnostics have provided an opportunity for increased genetic testing in the field of ophthalmology. The recent interventional therapeutic research strategies have also generated additional interest to seek GC globally, including in Asia. However, GC has several barriers to practise in the developing countries in Asia, namely, (a) shortage of qualified or trained genetic counsellors, (b) poor knowledge and reluctance in clinical adoption of genomics among the physicians in clinical practice, (c) overstretched public health services, and (d) negligible ophthalmic GC-related research and publications. The GC inadequacy in Asia is glaring in the most populous countries like China and India. Cultural differences, religious beliefs, misogyny, genetic discrimination, and a multitude of languages in Asia create unique challenges that counsellors in the West may only encounter with the immigrant minorities. Since there are currently 500 or more specific Mendelian genetic eye disorders, it is important for genetic counsellors to translate the genetic results at a level that the patient and family understand. There is therefore a need for governmental and healthcare organisations to train genetic counsellors in Asia and especially this practice must be included in the routine comprehensive ophthalmic care practice.

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Authors and Affiliations

  1. Department of Ophthalmology, University College London, London, UK

    Esther K. Y. Hui

  2. Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Kowloon, Hong Kong

    Jason C. S. Yam & Chi Pui Pang

  3. Department of Pharmacology, Sree Balaji Medical College and Hospital, Bharath Institute of Higher Education and Research (BIHER), Chennai, India

    Farhana Rahman

  4. Narayana Nethralaya, Narayana Health City, No. 258/A, Bangalore, Karnataka, 560099, India

    Govindasamy Kumaramanickavel

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Contributions

Esther K.Y. Hui: wrote the manuscript and done referencing

Jason C.S. Yam: guided the manuscript

Farhana Rahman: reviewed and made correction of the manuscript

Chi Pui Pang: overall core support

Govindasamy Kumaramanickavel: overall concept, discussion, and guidance

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Correspondence to Farhana Rahman.

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What is known about this topic?

Regarding ophthalmic genetic counselling, not much is published in world literature, though the field is widely practised for a couple of decades in many Western and few Asian countries.

What does this paper add to the topic?

There is a dearth of knowledge due to the lack of publications in ophthalmic genetics counselling in global literature. Hence, this paper introduces ophthalmic genetic counselling and the practical challenges related to the discipline in countries in the region of Asia.

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Hui, E.K.Y., Yam, J.C.S., Rahman, F. et al. Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia. J Community Genet 14, 81–89 (2023). https://doi.org/10.1007/s12687-022-00616-w

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