Page 19 - Genomic Medicine in Emerging Economies

8 CHAPTER 1: Genomic Medicine in Developing and Emerging Economies

from candidate genes identified in other populations (see Chapter 6). However,
most often these studies do not confirm findings previously reported in other
populations (Gatt et al., 2015). One of the possible reasons for the inconsis-
tencies found may result from the heterogeneity of the populations or from
the differences in the genes involved in the pathophysiology of these disorders.
This is the case for other complex and rare diseases where variants found in
Caucasian populations are not always replicated in Latin American, Asian, or
African countries (Hindorff et al., 2017).
In Latin America, as in many other emerging economies, the strategic implemen-
tation of genomic technologies is a fundamental need. It is crucial to continue
the work of breaking down the barriers to the use and implementation of clinical
genomics to ensure that all populations benefit from these great advances.

RETHINKING THE INNOVATION MODEL FOR GENOMICS
WITHOUT BORDERS
The current innovation model that has shaped scientists’ and researchers’
approach to scientific breakthroughs is linear, initially starting from discovery
work and subsequently proceeding, in a linear fashion, toward translational
research, in various phases, concluding with the clinical implementation of
the science and, reciprocally, diffusion of innovation and capacity building.
However, this model does not take into account that innovations are initiated
from discovery science, which in some cases may not be realistic in countries
with limited resources. Based on this notion and on the fact that scientists
and researchers may not only commence innovations upstream but also “mid-
stream,” a new model of innovation, also known as “the Fast-Second Winner”
model, was proposed, aiming for long-term development.
In particular, the Fast-Second Winner model takes into account the differ-
ent public health priorities and disease burdens of individual countries and
encourages midstream innovations, based on highly relevant diagnostic bio-
markers that differ from country to country. One of the key advantages of initi-
ating innovation midstream is that it can allow innovators to learn from other
innovators’ mistakes upstream in discovery work and, hence, raise the chances
of success for translational and (clinical) implementation science, particularly
when resources, in their own case are limited. Contrary to the linear innovation
model, which entails horizontal investment in all aspects of innovation from
discovery to translation to implementation work in a given country, the pro-
posed à la carte model of global innovation allows different developing coun-
tries to embark on multiple entry points into the global genomics innovation
ecosystem depending on their own needs, whether or not extensive discovery
infrastructure is already in place. Not only is this latter model cost-effective