Page 190 - Genomic Medicine in Emerging Economies

Current Research Projects Among Genomic Medicine Alliance Members 179

Genome Informatics Working Group
Documentation of the incidence of genetic disorders in different populations,
particularly in those developing countries with a high incidence of genetic
diseases and/or consanguinity, can be particularly helpful in the context of
adopting national prevention and screening programs (Patrinos, 2006). GMA
members have actively participated in the development of new or the update
of existing national/ethnic genetic databases for several populations in GMA
member territories, such as Greece, Serbia, Kuwait, Egypt, and Tunisia, by using
the newly upgraded ETHNOS software (Viennas et al., 2017).
The result is that the ETHNOS software supports, in its present format, the
development of a large number of national genetic databases (Papadopoulos
et al., 2014) based on the data warehouse principle and preexisting guidelines
(Patrinos et al., 2011). These databases are being assigned to senior human
geneticists in the corresponding populations in order to coordinate their cura-
tion and stimulate data enrichment and expansion.
Also, recognizing the need to provide a comprehensive resource for pharma-
cogenomics biomarker information for those drugs that are approved by regu-
latory authorities, members of the Genome Informatics Working Group have
extracted from the published literature all pharmacogenomic biomarkers that
relate to the FDA- and EMA-approved drugs with pharmacogenomic informa-
tion in their label and made them available in a database that triangulates
between drugs, genes, and pharmacogenomics biomarkers. The DruGeVar data-
base (Dalabira et al., 2014) was developed jointly with the Global Genomic
Medicine Collaborative Pharmacogenomics Working Group and contains a
total of 545 records, involving correlations between 91 drugs, 13 genomic loci
and 98 genomic variants, previously implicated in variable drug responses,
both in terms of efficacy and toxicity. All DruGeVar database records depict
drug/gene combinations that have been approved by any or both of the two
major regulatory agencies and are made freely available to the public for data
querying. Recently, the DruGeVar database was included as a plug-in module
for the pharmacogenomic biomarkers module of FINDbase database (Viennas
et al., 2017). Overall, being one of the few electronic resources in the field of
pharmacogenomics, the DruGeVar database is expected to contribute toward
bridging the gap between pharmacogenomics research findings and clinical
practice.
Owing to the rapid evolution of next-generation sequencing, the past
decade has seen the characterization of both somatic and/or germline
alterations in a wide range of cancers, generating a large body of infor-
mation pertaining to how cancer develops, evolves, and reacts to various
treatment modalities (Macintyre et al., 2016). Also, a considerable number
of genomic variants have previously been reported to be causative of, or