Cuban science plants the future in the code of life, transforming healthcare through community-focused genetic medicine.
In the heart of the Caribbean, a quiet revolution in the field of medical genetics is transforming the health of an entire nation. Cuba has integrated genetics into its public health system with a deeply human and community-focused approach, demonstrating that access to genomic knowledge is not a luxury, but a fundamental right.
This model, centered on prevention and equity, has achieved remarkable feats, such as reducing infant mortality from congenital defects by 80% over the past 40 years 5 . More than a technical advancement, genetics has become a tool for social justice in Cuba, reaching every family with hope and knowledge.
The Cuban medical genetics program has a unique conception. Its director, Dr. Beatriz Marcheco, describes it as the search for a new paradigm of care that focuses "not so much on diseases but, above all, on prevention focused on the individual and their interaction with the environment" 5 .
This approach materializes in a network of genetic services that extends across the island, attended not only by specialist physicians but fundamentally by genetic counselors trained in a rigorous master's program, many of whom come from the communities where they practice 9 .
The coverage is remarkable: one genetic counselor for every 15,655 inhabitants 9 , ensuring accessibility across the nation.
"Everything that happens from months before conception [...] throughout pregnancy and in the first 1000 days of life, has a significant influence on the diseases that will be suffered in adulthood," explains Dr. Marcheco 5 .
To ensure their services truly fulfill their mission, Cuba conducted monumental research to evaluate the effectiveness and ethical aspects of its genetic counseling.
Between 2003 and 2013, an observational, descriptive and retrospective study was conducted at the national level 9 . The scale was massive:
| Effectiveness Indicator | Result | Meaning |
|---|---|---|
| Level of knowledge acquired | 71.1% (good) | The vast majority of families understand the genetic information relevant to their health |
| Type of decisions made | 68.4% (very rational) | Informed and conscious decision-making predominates over emotional decisions |
| Family adjustment to the situation | 74.9% (good) | Families achieve healthy psychological and social adaptation |
| Satisfaction with services | 89.8% (high) | There is very high acceptance and positive evaluation of genetic services by the population |
Table 1: Main effectiveness results of genetic counseling in Cuba, based on a study with 13,142 participants 9 .
| Ethical Aspect | Percentage of Agreement | Interpretation |
|---|---|---|
| Selective abortion for serious early-onset genetic diseases | 93% | Broad social support for this reproductive option in cases of severe conditions |
| Non-directive approach in counseling | 76.5% | The population prefers that the counselor provides information, not dictates decisions |
| Secondary prevention as a priority objective | 81.3% | Early detection and action is valued as the most important goal of medical genetics |
Table 2: Perspectives of the Cuban population on ethical aspects in medical genetics 9 .
Work in medical genetics requires diverse tools. The following table details the key components of the "kit" used in Cuba, which combines the technical with the human:
| Tool | Function in the Cuban Model |
|---|---|
| Prenatal chromosomal studies | Diagnosis of anomalies such as reciprocal translocations, with a reported frequency of 1 per 588 cases 3 |
| Genomic sequencing | Identification of pathogenic variants to personalize diagnosis, prognosis and counseling 7 |
| Nuclear Magnetic Resonance | Accurate diagnosis of structural congenital defects, in continuous improvement 8 |
| Community Genetic Counselor | Fundamental piece to bring knowledge to the primary health level and empower families 9 |
| National Ethical Frameworks | Guidelines such as the "National ethical standards for genetic counseling" that ensure respectful practice 6 |
| Satisfaction Surveys | Evaluate the quality of services, incorporating the perspective of users such as pregnant women 8 |
Table 3: Essential set of tools for medical genetics in Cuba.
The social impact of genetics in Cuba transcends clinics. A fascinating documentary project called "DNA Route," directed by filmmaker Alejandro Gil and with the scientific advice of Dr. Marcheco, used genetics to explore the historical roots and mestizaje of the Cuban people through public figures such as singer-songwriter Silvio Rodríguez and former volleyball player Mireya Luis .
"DNA is capable of telling an individual story over hundreds of thousands of years. Seeing what it told about that person's mixture, where their ancestors came from and making them dialogue was fascinating," stated Dr. Marcheco .
This initiative demonstrates how genetic science can contribute to the dialogue about national identity and Cuba's rich cultural heritage.
The future of medical genetics in Cuba is being sown in the present through the continuous training of professionals. The Master's in Genetic Counseling regularly convenes new editions, such as the one scheduled for October 2025, which will adopt a hybrid modality to facilitate access from all provinces 3 .
Dr. Marcheco clearly identifies "inequity," "difficulties in accessing quality health services" and the "deficit of trained personnel" as obstacles to overcome, not only in Cuba but in the region 5 .
The key, according to her, lies in "health education and empowering people with the care of their health" 5 .
The integration of community-based approaches with advancing genomic technologies positions Cuba as a model for equitable genetic medicine.
The story of medical genetics in Cuba is proof that scientific excellence and social equity can go hand in hand. With a community and preventive approach, it has not only improved health indicators but also earned the trust of the population, as evidenced by the 89.8% satisfaction rate with its services 9 .
More than a set of techniques, Cuban medical genetics is a social project with a community soul, which understands that behind each genetic code there is a family, a story and a future to build.