Page 60 - Genomic Medicine in Emerging Economies

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CHAPTER 4

Leveraging International

Collaborations to Advance

Genomic Medicine in Colombia

Alicia Maria Cock-Rada* **, Carlos Andres Ossa Gomez †
,
*Instituto de Cancerología SA, Medellin, Colombia; **Universidad de Antioquia, Medellin,
†
Colombia; Clinica Las Américas, Medellin, Colombia

INTRODUCTION

The National Human Genome Research Institute defines genomic medicine
as “an emerging medical discipline that involves using genomic information
about an individual as part of their clinical care (e.g., for diagnostic or thera-
peutic decision-making) and the health outcomes and policy implications
of that clinical use” (NHGRI, 2016). Genomics is now becoming essential in
different fields of medicine, such as oncology, neurology, pediatric disorders,
and pharmacology. Since the complete sequencing of the human genome
in 2003, huge advances have been made in understanding the genetic etiol-
ogy of diseases and developing more personalized care (Feero et al., 2010;
Guttmacher and Collins, 2002). However, there is still a huge gap between
high-income and low- to middle-income countries in the use and impact
of genomics in regular clinical care. In 2010 the World Health Organization
(WHO), published the “Report of a WHO consultation on community genet-
ics in low- and middle-income countries (LMIC)” (WHO, 2010). According
to the WHO, the goal of community genetics in LMIC is “to prevent con-
genital disorders and genetic diseases at population level and, at the same
time, to provide genetics services (diagnosis and counseling) in the com-
munity for individuals and families.” The group of experts consulted by the
WHO agreed that availability of community genetic services in LMIC is less
than adequate, mainly because of “paucity of resources; genetic conditions
not being considered priorities; misconceptions that the control of common
congenital disorders is too expensive and linked with sophisticated technol-
ogy; low genetics literacy; cultural, legal and religious limitations such as
the fear of stigmatization within the community and the legal or religious

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