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The Polymerase Chain Reaction Technique 135

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7
cystic fibrosis , fragile X syndrome , and spinal muscular atrophy diagnoses were
developed (Chertkoff et al., 1997). Very rarely did researchers who had recently
earned their PhDs, like us, choose to leave the public scientific-technological
system. When we glimpsed the genomics future, we decided to create a private
diagnostic center to treat genetic diseases by using molecular biology.

“In this way, the first companies of disease molecular diagnosis were
created, a field where we are pioneers and, in 1991, we founded the first
molecular diagnostic laboratory in Argentina: Biología Molecular Diagnóstica,
specialize in the detection of infectious, genetic and oncohematological
diseases task that one of us continues to perform daily.”
Since there were no commercial kits for this kind of diagnosis, we developed our
own kits in a private laboratory. Along with other biologists who followed the
same path, and in order to develop a diagnosis, we used scientific publications
as reference; by replicating the methodologies we were able to fine-tune genetic
tests. To validate the tests in Argentina, we signed agreements among companies
and public hospitals for the analysis of a number of patients free of charge.
After validating the results for these patients, we started to offer the service to
all patients. In Argentina the reagents used were imported and very expensive.
“Our task ranged from reading scientific publications to washing and
autoclaving the plastic material that we had to recycle in order to reduce the
test costs. However, in this corner of the world, we knew we could do it, and
the desire to offer patients the latest technology encouraged us to carry out
any necessary task.”
9
While in the United States and Europe the first PCR machines were being used
to diagnose diseases, we created baths at a fixed temperature, clocked the time,
and tried to reproduce the technique with what we had available. Fortunately,
in a short time, both locally manufactured and imported PCR machines began
to appear in Argentina at a reasonable cost. At that moment, we were able to
increase the type and number of tests for our patients.
In the 1990s, molecular genetics and its applications in diagnosis and preven-
tion were an unknown terrain for the Argentine medical community. Therefore,
in order to perform the first tests in a laboratory, technological development
was not enough. As there was no precedent for a company like ours in Argen-
tina, it took a huge investment of time and money as well as in health pro-
fessionals’ education. This work was carried out through training courses in
hospital services of different medical specialties. Moreover, population surveys

7 A hereditary chronic disease of the exocrine glands, characterized by the production of viscid
mucus that obstructs the pancreatic ducts and bronchi, leading to infection and fibrosis.
8 A neurological inherited disorder inherited through the chromosome X.
9 Machines used to photocopy parts of the DNA by PCR technique.