Journal Article
Add like
Add dislike
Add to saved papers

Identifying an appropriate gene testing tool for inherited retinal dystrophy in Indonesia, a developing country.

INTRODUCTION: Inherited retinal dystrophy (IRD) is a group of untreated genetic ocular diseases that mostly affect young people. The number of patients with IRD worldwide, including in developing countries, is growing each year. This literature review aimed to investigate the current utilised genetic screening of IRD worldwide and to propose the most feasible genetics test and diagnostic method for IRD in developing countries, especially Indonesia.

MATERIALS AND METHODS: A literature search was performed in PubMed and Google Scholar databases. Papers conducting wide genome sequencing, including panel sequencing (panel-seq), microarray, whole exome sequencing (WES), whole genome sequencing (WGS) and Sanger sequencing on patients with IRD, were included. Papers were sorted into several groups to visualise the sequencing technology's detection rate. Detection rate comparison analysis was done using the meta-regress protocol in the R program. Whereas the number of novel mutations in each testing tool each year was pooled and compared in the graph.

RESULTS: After conducting the literature study, 37 papers were sorted from 451 results. Most studies conducted a panel-seq with 16 records followed by WES with seven records. The detection rate of the WES meta-analysis was 0.66, which was slightly better than the panel-seq with 0.55. The number of novel mutation discoveries fluctuated each year with panel-seq as the most prominent finder. Cost factors and the limitation of sequencing devices make panel-seq a more appropriate tool in Indonesia.

CONCLUSION: The most effective selection for evaluated genetic testing was WES. Therefore, panel-seq is more suitable for first-tier genetic testing in Indonesia.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

Related Resources

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app