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Medical Genetics in Vueltabajo: 15 years later

15 years after having inaugurated a building in Pinar del Río that housed Medical Genetics services, it is worthwhile to recognize, once again, the work of those who contribute to making the province the only one in the country that, for more than 10 consecutive years, has sustained a mortality rate in children under one year old due to congenital defects below the national average.
Dr. Anitery Travieso Téllez, head of the Provincial Department of Medical Genetics, insists that they would be nothing if the quality, professionalism and organization of municipal services did not exist. It is true that these historic results emanate from joint work with the services of Neonatology, Obstetrics, Perinatology, and the different specialties of pediatric care, but the alert comes from Genetics, from that team that has given Vueltabajo great joy for more than 35 years. years of performance in this field.
A LITTLE HISTORY
2003 marked a before and after in the development of Genetics in Cuba, it was the year in which the clinical and genetic study for people with disabilities was developed, promoted by Fidel Castro, the year in which the National Center for Genetics was inaugurated. Medical Genetics and in which an entire network is implemented throughout the country.
The drive for the development of this science reached the provinces, so the conditions were created to make independent the services that, until that moment, were subordinated to pediatric or obstetric hospitals, and thus convert them into provincial centers with the function of governing, evaluating , conduct and guide the diagnosis and management of genetic diseases in each of the territories, as well as the prevention of said diseases.
“From that moment on, there would be a provincial center, but in addition, the municipal Community Genetics services would function at the level of each of the country’s municipalities as a kind of new branch within Genetics, which did not exist; in such a way that this specialty, considered elite throughout the world, was brought closer to the community and was introduced into primary health care,” as Dr. Travieso Téllez announced.
“These were the changes that led to the inauguration of the center on August 13, 2008, after many stages that included the construction of the work that would house the medical assistance part and the laboratory, because until that moment, certain studies that were carried out During prenatal and postnatal life, the samples necessarily had to be sent to Havana, from then on it would be done here,” he said.
THE NAMES OF SCIENCE
The inauguration of a center of this type gave Vueltabajo the opportunity to expand the specialty and to form the Provincial Network of Medical Genetics and each of the Community Genetics services.
The director of the center reiterates that “success does not lie in having just one institution, because the heart of the services is not the property, but the professionals who work there, references who already had their history and who left marks that are indelible.” .
To cite an example, at that time there was Dr. Luis Raúl Martínez González, the father of ultrasonographic prenatal diagnosis in the province, and fortunately, he is still active and constantly contributing his wisdom to those who are trained.

The reception and waiting area exhibits the comfort necessary for pregnant women to feel comfortable Photo/ Januar Valdés Barrios

We must also mention Dr. Reynaldo Menéndez, who is a specialist in Clinical Genetics, and was in charge of directing the first steps, those taken by Dr. Midalys Orraca, but who, that August, was on a mission outside the country.
And so, we should also highlight the much admired Caridad Pérez Martínez, Cari, as everyone calls her, a specialist in Gynecology and Obstetrics, who delivers, in addition to knowledge, passion for what she does, which translates into tenderness towards his patients.
Travieso Téllez highlighted that of the current workforce of the center’s workers, 50 percent were present in that group from 15 years ago, which undoubtedly means a great strength. This demonstrates the sense of belonging, responsibility and sensitivity towards the work being carried out. “In such a way that the new generations that have joined were infected with that heritage.”
The category of Provincial Center was maintained until 2014, when the Health services in Cuba underwent restructuring and these became provincial departments of Medical Genetics.
WITHIN EVERYONE’S REACH
The department is in charge of offering a second opinion, that is, it is the secondary level of care for patients and families at risk or diagnosed with genetic diseases and congenital defects. It also provides prenatal diagnosis services by ultrasonography for the population of pregnant women, who have already received initial care in the municipalities and arrive with a referral.
There are also genetic counseling consultations for pregnant women at risk or with diagnoses of genetic diseases or congenital defects, as well as provincial clinical genetic consultations for already born patients of all ages, who have already been evaluated from their territories.
Centralized sampling for genetic studies also works, especially karyotyping of postnatal life, thanks to the operation of the cytogenetics laboratory and amniotic fluid for fetal karyotypes.

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Pregnant women arrive at this institution after being referred by their Health area and according to the diagnosed genetic risks. Specialists propose a strategy for monitoring Photo/ Januar Valdés Barrios

“Here in this same laboratory, the hemoglobins of pregnant women are processed to guarantee other subprograms such as the early diagnosis of sickle cell anemia or sickle cell disease, one of the most frequent genetic diseases in Cuba, which remains active, with optimal coverage rates. , cataloged as one of the best in the country,” said Travieso Téllez.
This instance has one Neurogenetics consultation per month, created from the neurological compromise that the patients in the clinical consultation had. Likewise, on a weekly basis, a joint consultation with obstetrics is carried out to evaluate pregnant women who also have relevant obstetric risks, and thus achieve the most comprehensive evaluation possible.
As a peculiarity, Travieso Téllez specified, Pinar del Río implements the strategy that pregnant women who are evaluated as having an increased genetic risk, pass through this center at least once during their pregnancy; this represents, unfortunately, more than half of the pregnant population. This strategy gives the future mother more peace of mind, and in the specialists it generates greater mastery of the characteristics and details of each one.
It is fair to recognize everything achieved in this time, a period marked by needs and obstacles, but of great results in terms of science and good treatment, guaranteed by the value of its people.

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