Pharmacogenomic variants affecting efficacy and toxicity of statins in a south Asian population from Sri Lanka.

Aim: To describe the diversity of pharmacogenetic variants of statins among Sri Lankans. Materials & methods: Variant data of relevant genes were obtained from an anonymized database of 426 Sri Lankans. Minor allele frequencies (MAFs) were compared with published data from other populations. Results: The MAF of SLCO1B1*5 (rs4149056 [T>C]) was 18.19% (95% CI: 14.53-21.85). MAFs of CYP2C9*2 (rs1799853 [C>T]) and CYP2C9*3 (rs1057910 [A>C]) were 2.58% (95% CI: 1.08-4.08) and 10.30% (95% CI: 7.75-13.61), respectively. MAFs of rs2231142 (G>T) (ABCG2), rs7412 (C>T) (APOE) and rs20455 (A>G) (KIF6) variants were 10.68% (95% CI: 7.76-13.60), 3.52% (95% CI: 1.77-5.27) and 50.7% (95% CI: 45.96-55.45), respectively. Compared with western/other Asian populations, rs20455 (A>G), CYP2C9*3 (A>C) and SLCO1B1*5 (T>C) variants were significantly higher in Sri Lankans. Conclusion: Variants that affect efficacy of statins (KIF6 [rs20455], CYP2C9*3) and increase risk of statin-induced myotoxicity (SLCO1B1*5 and CYP2C9*3) were prevalent in higher frequencies among Sri Lankans compared with western populations.

Diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans.

Aims: To describe the diversity of pharmacogenomic variants affecting warfarin metabolism in Sri Lankans. Materials & methods: Genotype data were filtered out from an anonymized database of 400 Sri Lankans, and minor allele frequencies (MAF) were calculated. Variants of CYP2C9, VKORC1 and CYP4F2 genes were studied. Results: Overall, CYP2C9*2 and CYP2C9*3 alleles had MAFs of 2.25% (95% CI: 0.80-3.70) and 10.38% (95% CI: 7.50-13.50), respectively. CYP2C9*11 and CYP2C9*14 alleles had MAFs of 0.13% (95% CI: 0-0.74) and 2.50% (95% CI: 0.97-4.03), respectively. MAFs of VKORC1 variants rs7294, rs9934438, rs8050894 and rs2884737 were 47.25% (95% CI: 42.36-52.14), 10.13% (95% CI: 7.28-13.22), 9.88% (95% CI: 7.06-12.94) and 4.88% (95% CI: 2.86-7.14), respectively. MAF of CYP4F2 variant rs2108622 was 45.63% (95% CI: 40.87-50.63). Conclusion: Compared with other populations, the frequencies of some studied variants were significantly different in Sri Lankans, and these are likely to account for variability in warfarin dosage requirements.

An international genomics health workforce education priorities assessment.

Aim: Global implementation of genomic medicine will require education of healthcare providers. There are limited international needs assessment data to guide curriculum development. Materials & methods: Genomics education experts developed and distributed a survey to individuals with knowledge of country-specific needs: 113 completed surveys (19% response rate) from 34 countries. A high percentage of respondents ranked non genetics physicians as the #1 target for genetics education. Over 70% indicated a need for moderate/extensive modification in physician training. The majority considered germline and somatic topics and targeting primary care and specialist providers equally important. Conclusion: Regardless of country economic level, there is a clear need for genomics education of healthcare providers. The study results can be used to focus future genomic medicine education efforts.

Strengthening health systems through informatics capacity development among doctors in low-resource contexts: the Sri Lankan experience.

In the process of strengthening health systems, a lack of health-informatics capacity within low- and middle-income country settings is a considerable challenge. Many capacity-development initiatives on health informatics exist, most of which focus on the adoption of eHealth tools by front-line health-care workers. By contrast, there are only a few programmes that focus on empowering medical doctors in low- and middle-income countries to become champions of digital health innovation and adoption. Sri Lanka has a dynamic eHealth ecosystem, resulting largely from the country's community of medical doctors who are also health informaticians. They are the result of a decade-long programme centred on a Master of Science degree course in biomedical informatics, which has trained over 150 medical doctors to date, and has now been extended to a specialist training programme. This paper evaluates this unique capacity-development effort from the perspective of strengthening health systems and how those in other low- and middle-income country contexts may learn from the Sri Lankan experience when implementing capacity-development programmes in health informatics.

Sri Lanka's national assessment on innovation and intellectual property for access to medical products.

In 2008, the Global strategy and plan of action on public health, innovation and intellectual property (GSPA-PHI) was launched by the World Health Organization, to stimulate fresh thinking on innovation in, and access to, medicines and to build sustainable research on diseases disproportionately affecting low- and middle-income countries. As part of the activities of the GSPA-PHI, Sri Lanka has been the first country to date to assess the national environment for medical technology and innovation. This year-long, multistakeholder, participative analysis facilitated identification of clear and implementable policy recommendations, for the government to increase its effectiveness in promoting innovation in health products through institutional development, investment and coordination among all areas relevant to public health. The assessment also highlighted areas for priority action, including closing the technology gap in development of health products, facilitating technology transfer, and building the health-research and allied workforces. The Sri Lankan experience will inform the ongoing independent external evaluation of the GSPA-PHI worldwide. The assessment process coincided with the passing of the National Medicines Regulatory Authority Act in 2015. In addition, there is growing recognition that regional cooperation will be critical to improving access to medical products in the future. Sri Lanka is therefore actively promoting cooperation to establish a regional regulatory affairs network. Lessons learnt from the Sri Lankan assessment may also benefit other countries embarking on a national GSPA-PHI assessment.