Page 152 - Genomic Medicine in Emerging Economies

Noninvasive Prenatal Test, A New Step in Prenatal Diagnosis 141

PERSONALIZED MEDICINE

In 2011 personalized medicine appeared, a new specialty that allows, by tak-
ing a DNA sample, one to determine both individual characteristics related
to food, nutrition, metabolism and physical exercise, as well as the risk of
17
developing multifactorial diseases such as diabetes or cardiovascular disease
(Margaret et al., 2010). In Argentina some companies began to emerge that
offered such tests. The circuit consisted of taking a sample from the patient,
sending it to the United States for testing, and then receiving the results, which
were relayed to the patient by specialized physicians.
Associations between polymorphisms and disease risk have presented scientific
evidence through tests implemented by consortia that perform genome wide
association studies (http://www.gwascentral.org/). Although its usefulness in
disease prevention is still questioned, studies related to nutrition and exercise
aimed at improving life quality began to show evidence of improvements in
patients who follow the recommendations suggested from the results. Unfor-
tunately, there are still few published studies showing significant differences
in the application of these tests in comparison with conventional treatments
(prevention guidelines and general population health routine controls), and
18
these are mainly focused on nutrigenetics and pharmacogenetics (Fenech
19
et al., 2011; Scott, 2011).
In Argentina, attempts to introduce these tests so far have not yielded good
results, as we try to educate the medical community to understand the mean-
ing of a particular genetic association.

NONINVASIVE PRENATAL TEST, A NEW STEP IN
PRENATAL DIAGNOSIS

In our country at present, the routine monitoring and control of fetal health
during pregnancy covered by the three health systems includes fetal nuchal
translucency and crown-rump length, values of BHCG or human chorionic
gonadotropin in blood, which produces the placenta, the values of another
hormone called PAAP-A, prenatal puncture, and chromosome analysis from
chorionic villi or amniotic fluid (American College of Obstetricians and Gyne-
cologists, 2007). The latter of these studies is greater for the population over
35 years old, which carries a risk of between 0.5% and 0.2% of pregnancy loss
due to the invasive degree of puncture.

17 Diseases due to the interaction between many genes and the environment.
18 The branch of science concerned with the effect of heredity on diet and nutrition.
19 The branch of pharmacology that examines the relation of genetic factors to variations in
response to drugs.