Page 28 - Genomic Medicine in Emerging Economies

Sri Lanka’s Initial Experience in Implementing Genomic Medicine 17

FIGURE 2.2 Measures that have to be taken to facilitate the implementation of genomic
medicine in developing countries.

sequencing (CES) for rare and complex disorders with unusual coexisting phe-
notypes, and multigene cancer panel testing for inherited cancer syndromes.
CES is performed using the TruSight One exon enrichment technology on the
Illumina MiSeq NGS platform. The CES kit contains 4836 clinically relevant
genes. The cancer gene panel that was implemented tests 94 genes associated
with both common (e.g., breast, ovarian, endometrial, colorectal, prostate,
gastric, pancreatic, and thyroid) and rare hereditary cancers. It was performed
using the TruSight Cancer sequencing kit produced by Illumina, USA, on the
same NGS platform.
The main challenges we encountered were the issues of who pays for the tests
and how to establish the test pricing. At present the Sri Lankan National Health
Service does not pay for genomic testing and there is no coverage for genomic
tests by insurance companies. As such, patients have had to bear the burden