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138 CHAPTER 7: Experience in the Development of Genomics Companies
molecular studies to risk factors in hemostasis and thrombosis, mitochondrial
12
disease analysis, and panels of higher prevalence diseases. Since 2001, with
the appearance of automatic sequencers in the market, techniques could be
automated and commercial kits could be used for genetic and paternity test-
ing (Butler, 2011). Automatation led to a bigger number of private laboratories
offering genetic diagnosis and paternity testing, resulting in increased competi-
tion and a significant studies’ price reduction. To illustrate, in 1993 the average
value of a paternity test ranged from US$1500 to US$2500, while in 2003 the
average value was US$400. Today, in 2017, a paternity test costs US$150.
HUMAN GENETICS AND HEALTH SYSTEM
Argentina’s health coverage system is divided into three parts: the public health
system that is free of charge and covers 46% of our population through hos-
pitals distributed throughout the country; the trade union health scheme sup-
ported by working class contributions, which covers 46.5% of the population;
and the prepaid health care plan system, which covers 7.5% of the population
(Penchaszadeh, 2013).
The Compulsory Medical Plan, which lists the practices and diagnoses that
any system has to cover 100% of the cost, does not include most of the current
genetic tests, leaving the decision to the patient’s health service provider, and,
until a few years ago, the patients generally had to pay for the study. Fortu-
nately, in recent years this trend is being reversed, showing a growing predis-
position of the different health systems to cover the costs of complex genetic
test on presentation of a medical history and a budget by the patient that are
evaluated by a special audit committee to be paid on special authorization.
Part of the work of diagnostic laboratories has been the promotion of genomic
study coverage among the medical community and even among patients’ rela-
tives. Today this task is favored by the strong dissemination in social networks
of the need for genetic studies and their usefulness.
To date, there is still a lack of professionals working in genetic counseling and
prevention in our country. The state has not given priority treatment to these
issues. That’s why genetics is one of the most defunded fields in medicine. Both
public and private genetic centers are concentrated in the city of Buenos Aires,
the province of Buenos Aires, and a few cities in the interior of the country. This
creates serious information access problems for patients’ relatives, pre- and
postconception genetic counseling, and the possibilities of having the study
costs covered by health systems.
A survey carried out in 2009 at the Garrahan Hospital showed that about 2200
pediatric (nonprenatal) diagnostic studies were performed in the public sector
12 Metabolic diseases due to mutations in the mitochondrial DNA.