Revolutionizing Medical Genetics: A 15-Year Journey in Pinar del Río, Cuba

Revolutionizing Medical Genetics: A 15-Year Journey in Pinar del Río, Cuba

A Leap in Medical Genetics

Located in the verdant province of Pinar del Río, Cuba, a medical genetics facility has been operating for the past 15 years, contributing significantly to the maintenance of an infant mortality rate due to congenital defects below the national average for over a decade. Dr. Anitery Travieso Téllez, the head of the Provincial Department of Medical Genetics, credits the success of the facility to the professionalism, organization, and the quality of services offered at the municipal level. She also acknowledges the indispensable collaboration with various specialties, including Neonatology, Obstetrics, Perinatology, and numerous pediatric care specialties.

A Historical Overview of Genetic Services in Cuba

The history of genetics services in Cuba underwent a paradigm shift in 2003. A clinical and genetic study for people with disabilities was initiated by Fidel Castro, marking a significant point in the development of genetics in the country. The same year witnessed the inauguration of the National Center for Medical Genetics and the implementation of a nationwide network. Previously subordinate to pediatric or obstetric hospitals, the provinces began to develop their genetics services, evolving into independent provincial centers. Their principal tasks were to supervise, evaluate, and guide the diagnosis, management, and prevention of genetic diseases in each territory.

Community Genetics: Bringing Specialty to the Grassroots

The evolution of genetic services in Cuba paved the way for the birth of community genetics services at the municipal level. This development brought the elite specialty closer to the community, integrating it into primary health care. The center, inaugurated on August 13, 2008, expanded the specialty and formed the Provincial Network of Medical Genetics and each of the community genetics services.

The Backbone of Success: The Professionals

The success of the facility is attributed not to the institution, but to the professionals working within it. Key contributors include Dr. Luis Raúl Martínez González, a pioneer of prenatal ultrasound diagnosis in the province, Dr. Reynaldo Menéndez, a clinical genetics specialist, and Caridad Pérez Martínez, a specialist in Gynecology and Obstetrics. Dr. Travieso Téllez noted that 50% of the current center’s staff were part of the original team 15 years ago, indicating a strong sense of belonging and responsibility.

A Multifaceted Approach to Medical Genetics

The department provides a secondary level of care, offering second opinions for patients and families at risk or diagnosed with genetic diseases and congenital defects. It provides prenatal ultrasound diagnosis services for pregnant women, genetic counseling for pregnant women at risk or diagnosed with genetic diseases or congenital defects, and clinical genetic consultations for patients of all ages. The facility also operates a centralized sample collection for genetic studies, particularly postnatal karyotype, due to the functioning of the cytogenetics laboratory and amniotic fluid for fetal karyotypes.

Integrating Genetics into Maternal Care

Pregnant women are referred to this institution by their health area based on the diagnosed genetic risks. The specialists propose a strategy for their follow-up. The facility ensures the processing of the hemoglobins of pregnant women, enabling early diagnosis of Sickle cell anemia, one of the most common genetic diseases in Cuba, which remains active with optimal coverage rates.