Page 27 - Genomic Medicine in Emerging Economies

16 CHAPTER 2: Taking Genomics From the Bench to the Bedside in Developing Countries

FIGURE 2.1 Barriers to implementation of genomic medicine in developing countries.

profession is unable to provide these services. The major constraints, as stated
before, are the infrastructure and manpower that enable relevant genomic tests
to be performed locally (Sirisena et al., 2016).
In one of our previous papers that related several translational genetics and
genomics success stories from the developing world, we described how our ini-
tial experience in implementing genomic medicine at our center in Sri Lanka
led to improved patient care (Sirisena et al., 2016). To successfully integrate
genomic medicine into our clinical practice, we had to improve the existing
laboratory infrastructure, train our staff, and focus especially on developing
our in-house bioinformatics capabilities. In addition, we had to convince
technology suppliers that we were committed to implementing next-genera-
tion sequencing (NGS) services. So far we have successfully applied genomic
technologies to identify genomic variants in more than 80 probands with a
spectrum of genetically heterogeneous rare Mendelian disorders. Using the
Illumina MiSeq NGS platform and an in-house bioinformatics pipeline estab-
lished using open-source software, we successfully implemented clinical exome