Implementation of genomic medicine in Sri Lanka: Initial experience and challenges

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 medic...

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Main Authors:	Sirisena, Nirmala D., Neththikumara, Nilaksha, Wetthasinghe, Kalum, Dissanayake, Vajira H.W.
Format:	Online
Language:	English
Published:	Elsevier 2016
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911425/

id	pubmed-4911425
recordtype	oai_dc
spelling	pubmed-49114252016-06-28 Implementation of genomic medicine in Sri Lanka: Initial experience and challenges Sirisena, Nirmala D. Neththikumara, Nilaksha Wetthasinghe, Kalum Dissanayake, Vajira H.W. Article 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. Elsevier 2016-05-17 /pmc/articles/PMC4911425/ /pubmed/27354939 http://dx.doi.org/10.1016/j.atg.2016.05.003 Text en © 2016 Published by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Sirisena, Nirmala D. Neththikumara, Nilaksha Wetthasinghe, Kalum Dissanayake, Vajira H.W.
spellingShingle	Sirisena, Nirmala D. Neththikumara, Nilaksha Wetthasinghe, Kalum Dissanayake, Vajira H.W. Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
author_facet	Sirisena, Nirmala D. Neththikumara, Nilaksha Wetthasinghe, Kalum Dissanayake, Vajira H.W.
author_sort	Sirisena, Nirmala D.
title	Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
title_short	Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
title_full	Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
title_fullStr	Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
title_full_unstemmed	Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
title_sort	implementation of genomic medicine in sri lanka: initial experience and challenges
description	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.
publisher	Elsevier
publishDate	2016
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911425/
_version_	1613596100396056576

Implementation of genomic medicine in Sri Lanka: Initial experience and challenges

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