ArticleApplied & translational genomics2016
Implementation of genomic medicine in Sri Lanka: Initial experience and challenges.
Article in Applied & translational genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed.
- All you Need is Trust? Public Perspectives on Consenting to Participate in Genomic Research in the Sri Lankan District of Colombo.Asian bioethics review · 2024Article
- The burden of hospital admissions for skeletal dysplasias in Sri Lanka: a population-based study.Orphanet journal of rare diseases · 2023Article
- Functional evaluation of five BRCA2 unclassified variants identified in a Sri Lankan cohort with inherited cancer syndromes using a mouse embryonic stem cell-based assay.Breast cancer research : BCR · 2020Article
- Genetics and genomic medicine in Sri Lanka.Molecular genetics & genomic medicine · 2019Review
- Strategies for Genomic Medicine Education in Low- and Middle-Income Countries.Frontiers in genetics · 2019Article
- Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries.Journal of community genetics · 2017Article
- Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis.Global pediatric health · 2017Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The recent advances in next generation sequencing technologies have made it possible to implement genomic medicine in developing countries such as Sri Lanka where capacity for utilization is limited. This paper aims to describe our initial experience and challenges faced in integrating genomic medicine into routine clinical practice. Using the Illumina MiSeq Next generation sequencing (NGS) platform and an in-house developed bioinformatics pipeline/workflow, we successfully implemented clinical exome sequencing for rare disorders, complex disorders with unusual coexisting phenotypes, and multigene cancer panel testing for inherited cancer syndromes. The advantages of implementing these tests, the challenges for bioinformatics analysis and reporting, the ethical, legal, and social implications of moving from genetic to genomic counseling, and special policy issues related to implementing these tests are further discussed. The implementation of genomic medicine into our routine clinical practice has facilitated improved care for our patients, attesting to the ability of resource limited countries to improve care using advanced genomic technology.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.