Page 73 - Genomic Medicine in Emerging Economies

62 CHAPTER 4: Le v er aging Int ernational Collabor ations

The IDC established the first oncogenetics unit in Medellin, in February 2015,
for the study of hereditary, familial, and early-onset tumors. Of the patients
referred to the oncogenetics unit 80%–90% have breast and/or ovarian cancer.
When a germ line mutation in a highly penetrant gene is found in an individual
and a hereditary cancer is diagnosed, this greatly impacts the clinical manage-
ment of the patient and family. For example, germ line mutations in the BRCA1
and BRCA2 genes cause hereditary breast and ovarian cancer syndrome, which
confer a cumulative lifetime risk for developing breast cancer of 40%–80% and
for ovarian cancer of 11%–40% (Petrucelli et al., 2013). These mutations are
transmitted in an autosomic dominant manner; therefore, first-degree relatives
have a 50% chance of carrying a mutation. Because of the high risks of develop-
ing cancer in mutation carriers, prophylactic surgeries and/or strict surveillance
significantly increases the survival of these patients (Daly et al., 2017).
We developed a care model for hereditary cancers that integrates the health
care system and research projects (Fig. 4.3). The patient referred to oncoge-
netics consultation with personal or family history of cancer is first seen by
a trained nurse who does a preconsultation with the patient, who answers a
cancer risk questionnaire developed in the IDC and does a complete family
pedigree. Then, the geneticist evaluates the patient, performs genetic counsel-
ing, and if needed orders genetic tests. Between 2015 and 2017, only 30% of
the tests ordered through the health care system in the IDC for the study of
hereditary cancers (based on the National Comprehensive Cancer Guidelines
(NCCN)) was covered by the insurance companies (EPS). The test orders were
analyzed by a committee created by each insurance company called the Tech-
nique-Scientific Committee (CTC), which decided if they would pay for these
tests or not. Most tests were denied, and the patient had to sue the insurance
companies through a legal mechanism created by the Colombian Constitu-
tion called “Tutela Action,” which protects against violation of individuals fun-
damental rights (Presidencia de la República de Colombia, 1991). Therefore
results usually took 3–6 months on average to be obtained. This changed in
2017; CTC’s were officially eliminated, and insurance companies are obliged
to cover all tests included in the POS (e.g., molecular studies for diseases, gene
sequencing, deletion and duplication analysis). Nevertheless, many EPS still
do not comply with their obligations, resulting in the same legal actions and
delayed medical attention.

INTERNATIONAL COLLABORATIONS TO ADVANCE
MEDICAL GENOMICS IN COLOMBIA

Because of the difficulties discussed, many public and private academic and
health care institutions use research projects to address problems not covered
or ignored by the health care system. Research funding from the state, mainly