Page 71 - Genomic Medicine in Emerging Economies

60 CHAPTER 4: Le v er aging Int ernational Collabor ations

(MSPS, 2012). Neonatal screening tests for genetic disorders do not necessarily
use expensive technologies such as next-generation sequencing (NGS), which
have proven to be cost-effective in other countries (Kingsmore et al., 2012).
It is estimated that in the near future a population-specific test panel could
cost US$10 for 10 Mendelian disorders, which currently affect 2% of children
worldwide (Kingsmore et al., 2012). Hopefully, Colombia will understand
the importance of regulating genetic tests and making them available to the
general population for diagnosing and treating certain diseases, which if rec-
ognized early and treated, greatly benefit the patient (e.g., phenylketonuria,
galactosemia, and cystic fibrosis).

MOLECULAR/GENETIC DIAGNOSTIC LABORATORIES

Colombia has a state laboratory, the Instituto Nacional de Cancerología,
which has limited funding and resources. Private laboratories perform most
molecular/genetic diagnostic tests. According to the Colombian Association
of Human Genetics (ACHG), there are at least 40 laboratories offering clini-
cal genetic and cytogenetic testing services, including laboratories in public
or academic institutions and over 40 research groups in genetics according
to Administrative Department of Science, Technology and Innovation (Col-
ciencias) (Colciencias, 2016). Since there is no regulation for genetic tests
in Colombia, besides paternity tests, these are performed in various ways by
different laboratories. Many commercial laboratories offer in their portfolios
complex genetic tests that are performed abroad, such as multigene panels or
whole exome sequencing (WES). They send the patient’s samples abroad and
receive the results, charging a high amount for acting as a channel between
the patient, the health care insurance company, and the laboratory abroad.
Other labs send samples to laboratories that offer next-generation sequencing
services and charge for the data analysis. However, some of them are research
laboratories lacking certifications for diagnosis, such as the Clinical Laboratory
Improvement Amendment (CLIA), a certification required in the United States
for human diagnostic testing (FDA, 2014).
Some companies in Colombia are starting to invest in sequencing platforms
and high-tech infrastructure. However, the high costs of importing the equip-
ment and reagents make the locally performed genetic tests sometimes more
expensive than the tests performed abroad. Since there is also a lack of knowl-
edge and of trained professionals (i.e., bio-informaticians, genetic counselors,
and geneticists), sometimes the results and especially the analyses and inter-
pretation of results are not very reliable, with a higher risk of false positive or
false negative results. A common strategy now is for local labs to partner with
laboratories abroad with more experience, to provide local tests with the exper-
tise and support from international labs.