Page 154 - Genomic Medicine in Emerging Economies

References 143

j▪ So far, the data mostly come from individual genes, although whole
genome sequencing is growing.
j▪ Research analyzing genomic data on human diseases accounts for only
5% of total projects.
There are few private centers in Argentina that have NGS technology for
genomic studies or that plan to incorporate them. The reasons are basically
economic, since the lack of large test requests generates a very high cost per
capita (average reagent cost in one panel: US$500). That’s why these tools are
limited to the public sector and companies have opted to enter into agree-
ments with companies abroad that provide these services at a lower cost.
At present, in Europe and the United States, genetic diagnostic companies are
receiving significant investments and growing exponentially. Undoubtedly,
since the incorporation of new generation sequencing, the possibility of diag-
nosing diseases is changing. Today physicians try to find the origin of all dis-
eases, such as cardiovascular disease, malformations, mental retardation, and
many others. Argentina cannot compete with these large companies because
of, on the one hand, the high cost of machine and reagent and, on the other
hand, the low number of each study that is requested. Given this situation,
laboratories like ours have signed representations with important international
companies. Working with them we are able to solve many patients’ diagnoses.
From the private sector, we have focused on spreading more awareness of the
advances in genetics and diagnosis. We do this through the networks, talks,
and specialists who visit physicians to inform them about current advances. At
present, we are receiving a large number of budget requests for testing cancer,
21
20
epilepsies, mental retardation, Marfan syndrome , long QT syndrome , and
many other diseases. To our surprise, the trade union health scheme and the
prepaid health care plan have begun to cover a large number of these studies.
Although sometimes the process takes a while, the results are proving to be very
satisfactory. We think that given the continuous increase in demand, the incor-
poration of NGS technologies to carry out studies in Argentina is getting closer.

References

American College of Obstetricians and Gynecologists, 2007. Screening for fetal chromosomal ab-
normalities. ACOG Practice Bulletin No. 77. Obstet. Gynecol. 109 (1), 217–227.
Baranzini, S., Giliberto, F., Mariana Herrera, García Erro, M., Grippo, J., Szijan, I., 1998. Deletion
patterns in Argentine patients with Duchenne and Becker muscular dystrophy. Neurol. Res.,
409–413, Col. 20 ISSN: 0161-6412/98.

20 A genetic disorder that affects the body's connective tissue.
21 A rare congenital and inherited or acquired heart condition in which delayed repolarization
of the heart following a heartbeat increases the risk of fainting and sudden death due to
ventricular fibrillation.