Page 151 - Genomic Medicine in Emerging Economies

140 CHAPTER 7: Experience in the Development of Genomics Companies

causal mechanisms of little-known diseases, understanding tumor genesis,
expanding the population genetics field and venturing into the variants
that generate risks of complex diseases, carrying out pharmacogenomic
studies, improving work methodologies in forensic genetics, etc. (Eichler
et al., 2010).

Since 2010 biotech companies worldwide have begun to incorporate the mas-
sive amounts of gene sequencing into their diagnostic services and to offer
the sequencing of gene panels by using the NGS technique (https://www.
illumina.com/content/dam/illumina-marketing/documents/products/illu-
mina_sequencing_introduction.pdf). Panel analysis consists of the simultane-
ous study of several genes related to a pathology. There are gene panels to find
mutations in ataxias, epilepsies, mental retardation, cardiovascular diseases,
ophthalmologic, deafness, lung diseases, and cancers, among other patholo-
16
gies. Exome studies began to be applied in order to look for the origin of
unknown or rare diseases.
At that moment, because of the time and high costs that a single-gene sequenc-
ing demanded, gene panels through NGS became more profitable and infor-
mative, and therefore diagnosis quality and physicians’ advice have improved.
The possibilities of offering panel studies in Argentina instead of single-gene
sequencing became a new challenge to the medical community culture—they
became accustomed to request studies no longer for a single gene, but for gene
clusters associated with the same clinical symptomatology, and such informa-
tion would be construed in that context.
In 2014 the competition among molecular diagnostic laboratories in Argentina
was fundamentally based on the most common genetic diseases and paternity
testing. Because of a supply cost issue, the use of automated equipment pointed
to those studies and not to gene sequencing studies for complex or low-frequency
diseases. Genda saw the possibility of offering all those studies that were not
developed in the country through agreements and referrals to well-known centers
from the United States and Europe (Blueprint, Centogene, Emory, Color, and
others). Genda became known abroad as a reference center for Argentina and
received numerous representation proposals for diagnostic companies.
Since then, Genda has focused on providing ongoing advice to physicians,
informing them about new studies and offering support on genetic infor-
mation interpretation. We currently receive questions on a great diversity of
genetic, neurological, malformation, cardiological, prenatal, and ophthalmo-
logical studies. Questions come from patients, physicians, and even health care
systems that seek to support a patient’s genetic study.

16 The portions of a gene or genome that code information for protein synthesis; the exons in
the human genome.