Genetics and genomic medicine in Sri Lanka

Sirisena, Nirmala D.; Dissanayake, Vajira H. W.

doi:10.1002/mgg3.744

“…A study done in Canada describes difficulty in accessing resources, cost, distance and poor patient engagement as key issues in the practice of clinical genetics particularly in rural areas (25). This need of expanding genetic services in the country have been highlighted before (23).…”

Section: Main Textmentioning

confidence: 99%

“…In Sri Lanka availability of clinical genetic services dates back to 1981 and genomic medicine was implemented in 2010 (23 ) . However there is a paucity of scientific evidence about physicians' knowledge regarding different genetic diagnostic methods and their application in the clinical practice.…”

Section: Introductionmentioning

confidence: 99%

Knowledge on Genetic and Genomic Diagnostics among Sri Lankan Medical Practitioners

Jayawardana

¹

2020

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Objectives : Up-to-date knowledge on changing genetic and genomic diagnostic approaches is essential for a contemporary medical practitioner. This study was carried out to describe Sri Lankan Medical Practitioners’ current knowledge and opinion on modern genetic and genomic diagnostics techniques. Results : Data was collected to an electronic database using an online self-administered questionnaire. A total of 123 respondents completed the questionnaire. Majority had either some or adequate knowledge on applications of basic genetic diagnostic methods such as karyotyping and polymerase chain reaction. Similarly most had either some or adequate knowledge on the use of predictive genetic tests in cancer. However the level of knowledge on the applications of modern diagnostic techniques like Fluorescent in-Situ Hybridization and Next Generation Sequencing remained poor. Majority had inadequate knowledge on newer concepts such as direct-to-consumer genetic testing and personalized medicine. Most agreed upon the inadequacy of undergraduate genetic education and the need of a continuous medical education program to fill this knowledge gap. Both undergraduate and continuous medical education approaches should be modified to improve the knowledge on increasingly complicated technological and ethical aspects associated with modern genetic diagnostics.

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“…A study done in Canada describes difficulty in accessing resources, cost, distance and poor patient engagement as key issues in the practice of clinical genetics particularly in rural areas (20). The need of expanding genetic services in the country has been emphasized before (18).…”

Section: Main Textmentioning

confidence: 99%

“…In Sri Lanka availability of clinical genetic services dates back to 1981 and genomic medicine was implemented in 2010 (18). However there is a paucity of scientific evidence about physicians' knowledge regarding different genetic and genomic diagnostic methods and their applications.…”

Section: Introductionmentioning

confidence: 99%

Knowledge on Genetic and Genomic Diagnostics among Sri Lankan Medical Practitioners

Jayawardana¹

2020

Preprint

0

View full text Add to dashboard Cite

Objectives : Up-to-date knowledge on changing genetic and genomic diagnostic approaches is essential for a contemporary medical practitioner. This study was carried out to describe Sri Lankan Medical Practitioners’ current knowledge and opinion on modern genetic and genomic diagnostics techniques. Results : Data was collected to an electronic database using an online self-administered questionnaire. A total of 123 respondents completed the questionnaire. Majority had either some or adequate knowledge on applications of basic genetic diagnostic methods such as karyotyping and polymerase chain reaction. Similarly most had either some or adequate knowledge on the use of predictive genetic tests in cancer. However the level of knowledge on the applications of modern diagnostic techniques like Fluorescent in-Situ Hybridization and Next Generation Sequencing remained poor. Majority had inadequate knowledge on newer concepts such as direct-to-consumer genetic testing and personalized medicine. Most agreed upon the inadequacy of undergraduate genetic education and the need of a continuous medical education program to fill this knowledge gap. Both undergraduate and continuous medical education approaches should be modified to improve the knowledge on increasingly complicated technological and ethical aspects associated with modern genetic diagnostics.

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“…In 2015, using the Illumina MiSeq NGS platform and an in-house developed validated bioinformatics pipeline, multi-gene cancer panel testing and clinical exome sequencing were successfully implemented at our center for the genetic evaluation of patients with inherited cancer syndromes [3,4]. However, the implementation of NGS-based genomic testing into our routine clinical cancer practice has simultaneously yielded a multitude of rare germline variants in cancer predisposing genes that are known as variants of unknown clinical significance (VUS).…”

mentioning

confidence: 99%

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

Sirisena

¹

,

Biswas

²

,

Sullivan

³

et al. 2020

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Next-generation sequencing of Sri Lankan families with inherited cancer syndromes resulted in the identification of five BRCA2 variants of unknown clinical significance. Interpreting such variants poses significant challenges for both clinicians and patients. Using a mouse embryonic stem cell-based functional assay, we found I785V, N830D, and K2077N to be functionally indistinguishable from wild-type BRCA2. Specific but mild sensitivity to olaparib and reduction in homologous recombination (HR) efficiency suggest partial loss of function of the A262T variant. This variant is located in the N-terminal DNA binding domain of BRCA2 that can facilitate HR by binding to dsDNA/ ssDNA junctions. P3039P is clearly pathogenic because of premature protein truncation caused by exon 23 skipping. These findings highlight the value of mouse embryonic stem cell-based assays for determining the functional significance of variants of unknown clinical significance and provide valuable information regarding risk estimation and genetic counseling of families carrying these BRCA2 variants.

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Genetics and genomic medicine in Sri Lanka

Cited by 12 publications

References 21 publications

Knowledge on Genetic and Genomic Diagnostics among Sri Lankan Medical Practitioners

Knowledge on Genetic and Genomic Diagnostics among Sri Lankan Medical Practitioners

Knowledge on Genetic and Genomic Diagnostics among Sri Lankan Medical Practitioners

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

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