Page 24 - Genomic Medicine in Emerging Economies

CHAPTER 2

Taking Genomics From the Bench to the

Bedside in Developing Countries

Nirmala D. Sirisena, Vajira H.W. Dissanayake
Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka

BACKGROUND
Since the announcement of the completion of the Human Genome Project
in 2001, genomics has continued to make a significant impact on health care.
One can trace the path from genetics to disease biology as it progressed from
identifying disease genes to sequencing genomes, to mapping disease genes,
to cataloging common and rare genetic variations, to interpreting their clinical
significance, and to understanding how the genome folds into three-dimen-
sional maps. All these developments have significantly influenced biomedical
research, leading to remarkable achievements and innovations in medical sci-
ence and clinical care (Dissanayake and Barash, 2016). Although we are well
into the second decade after the completion of the Human Genome Project,
its full potential still remains untapped, and its clinical benefits are yet to affect
the global population at large.
Advances in sequencing technologies and decreasing costs are making whole
genome sequencing (WGS) and whole exome sequencing (WES) increasingly
accessible and are enabling the transition from research applications and con-
sumer genomics to routine clinical care. Translational genomics can no lon-
ger simply be considered a vague conduit from bench research to bedside care,
with research only conducted in a top-down fashion involving studies done
in secrecy, with little or no reporting back to research participants. Nowadays,
patients contribute more to, as well as demand more from, their clinical
encounters and genetic/genomic data (Isaacson Barash, 2016). Public health
genomics is defined as the effective translation of genome-based knowledge
and technologies for the benefit of population health. So far, the major empha-
sis has been on genomic “discovery” research and its impact on individual
health, rather than on how such discoveries could be integrated into practice to

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Genomic Medicine in Emerging Economies. http://dx.doi.org/10.1016/B978-0-12-811531-2.00002-3
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