Page 153 - Genomic Medicine in Emerging Economies

142 CHAPTER 7: Experience in the Development of Genomics Companies

In 2012, a new way of approaching prenatal studies arose in our country, as
two North American companies, Verinata (http://www.illumina.com/) and
Natera (http://www.natera.com/), entered the market looking for partnerships
with genetics centers to offer noninvasive prenatal studies (NIPT) (Palomaki
et al., 2012). These studies using NGS technology are based on the analysis of
fetal DNA circulating in the maternal plasma and the search for aneuploidies
most frequently associated with advanced maternal age (trisomy 21, 13, 18, X
and Y chromosome aneuploidies) with a sensitivity around 99%.
Because of its good reputation in the genetic and diagnosis field, Genda was
one of the first centers contacted by these companies to enter the market. The
work was arduous, since it was again necessary to convince the obstetric com-
munity of the convenience of these studies for their patients, because although
the pregnancy period in which these anomalies are detected decrease for
12–10 weeks and do not present risk of pregnancy loss, these studies are not
currently covered by the health system and are too costly, only being affordable
to people who have high purchasing power. By 2016, about 350 tests/month
were carried out in Argentina, distributed among five centers that send the
samples to companies abroad. It is surprising how these tests, which tend to
guarantee the arrival of a healthy child, had and have an unusual penetrance in
the diagnosis market. In addition, as maternity has been postponed through-
out Western society, women over 35 choose these tests to know the state of
their child’s health.

CURRENT STATUS OF GENOMICS IN ARGENTINA

Although there is a growing demand for genetic studies in the country, and the
science and technology policies of the last 10 years have favored the construc-
tion of genomic research centers with the latest generation equipment, pro-
moting the creation of the first genomic platform and the first bioinformatic
platform of the country, these centers are still at the research stage and have not
been massively turned to the application of such platforms in human genetic
diagnosis. There are still no genomic databases of our population that can be
consulted when analyzing the incidence and impact of a polymorphism or a
mutation.
An exploratory survey carried out in 2016 by the National Genomic Data
System (www.datosgenomicos.mincyt.gob.ar/pdfs/Encuesta_Exploratoria_
SNDG_2016_Resultados.pdf) by 108 research groups from 72 Argentine insti-
tutions working on projects involved in the analysis, production, or use of
genomic data shows the following:

j▪ In Argentina, mainly in Buenos Aires, Córdoba, Mendoza, and Santa
Fe, there are several groups of scientists that use gene or genome data in
their research projects.