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International Collaborations to Advance Medical Genomics in Colombia 65

informed consent of the patient. This protocol protects the rights and confi-
dentiality of every subject from any third party and was approved by a local
independent ethics committee (i.e., Institutional Review Board). The patients
are benefiting directly from this study, because test results that change clinical
management are disclosed to the patient with genetic counseling. Therefore
patients that did not have access to these tests through the health care system
and have a clear need for genetic testing according to NCCN guidelines have
the opportunity to get tested. One of the main advantages for the collaborat-
ing sites is the academic feedback and the possibility to interact and discuss
cases through a weekly Web meeting or through case discussion forums. City
of Hope also offers a world-renowned training program, the City of Hope Clin-
ical Cancer Genomics Community of Practice (CCGCoP) Intensive Course in
Cancer Risk Assessment, which is partly funded by the National Cancer Insti-
tute. This course is composed of multidisciplinary participants (e.g., genetic
counselors, geneticists, oncologists, surgeons, and biologists) from different
parts of the world and offers physicians, geneticists, and genetic counselors
form all over Latin America basic training in cancer risk assessment, which is
not available in their own countries. City of Hope, along with the University of
Chicago, also offers yearly academic events and update conferences on cancer
genetics and genomics.
A study of hereditary diffuse gastric cancer was also developed in collaboration
with the University of Antioquia and the Genome Center and the Department
of Biochemistry and Molecular Medicine in the School of Medicine at the Uni-
versity of California, Davis, directed by Dr. Luis Carvajal-Carmona. We are also
participating in the Gastric Cancer Genetics Consortium in Hispanic Popula-
tions, which will hopefully help us understand more about this disease in our
population, because gastric cancer is a leading cause of cancer-related mortal-
ity in the country. We identified individuals with testing criteria for hereditary
diffuse gastric cancer and performed E-Cadherin coding gene (CDH1) germ
line testing along with DNA repair genes involved in homologous recombina-
tion. This study offered the opportunity to include patients, not tested through
the health care system, who needed genetic testing. This collaboration also
offered the opportunity for a master’s student in genetics at the University
of Antioquia to be trained in next-generation sequencing technologies at the
University of California, Davis, as well as to receive bioinformatics training in
human genetic analysis, which is very deficient in the country.
Together, these two studies have opened a window of opportunity for the
advancement of research in cancer genetics and offer the possibility to study
patients ignored by the health care system. The results of these studies will
hopefully have an impact on the health care system and policy makers by dem-
onstrating the impact of genetic testing on management of hereditary cancers,
which account for about 10% of all cancers.