Clinical Genetics

Specialist assessment of hereditary risk and applied genomic medicine

The Clinical Genetics Department at the Publio Cordón Memorial Hospital is responsible for assessing hereditary risk and the clinical application of genomic medicine. It provides care for individuals and families with suspected hereditary conditions, relevant family histories or a need to interpret a genetic result within a specific medical context.

Clinical genetics comes into play when molecular information can influence diagnostic decisions, prevention strategies or family planning. The aim is to transform genetic data into clear, structured medical guidance tailored to each individual’s situation.

Specialist care in cases of suspected genetic predisposition

An assessment is recommended where there is a family history of cancer, hereditary heart conditions, neuromuscular disorders, neurological disorders, developmental disorders, rare diseases, or endocrine and metabolic conditions with a possible genetic basis.

Each case is analysed on an individual basis through a detailed medical history and the creation of a structured family tree, with the aim of identifying possible inheritance patterns and estimating actual clinical risks.

The decision to carry out genetic testing is based on medical judgement, prioritising those tests that can provide significant diagnostic, preventive or therapeutic benefit.

Clinical situations requiring structured genetic testing

Clinical genetics is not merely about carrying out tests, but about correctly prescribing and interpreting those that can provide medical value.

Among the situations that most frequently require specialist assessment are:

• Suspected hereditary syndromes associated with a predisposition to cancer.

• Familial heart conditions and hereditary risk of arrhythmia.

• Genetically based neuromuscular and neurodegenerative diseases.

• Developmental disorders and intellectual disability.

• Rare diseases with a suspected molecular aetiology.

• Genetic assessment in reproductive planning where there is a relevant family history.

• Pharmacogenetic testing to optimise treatments.

Each indication is based on up-to-date clinical protocols and established scientific evidence.

Comprehensive genetic assessment and sequencing technologies

The speciality utilises next-generation sequencing (NGS) technologies, including targeted tests, exome analysis and, where justified, whole-genome sequencing.

These tools enable the identification of clinically relevant genetic variants that may explain symptoms, confirm diagnoses or establish specific preventive measures.

Interpretation is always carried out within a clinical context, assessing the true significance of each finding and avoiding conclusions based solely on isolated molecular data.

This approach ensures diagnostic accuracy and reduces uncertainty in complex situations.

Prenatal, reproductive and paediatric genetics

This specialism carries out genetic screening for carriers and pre-conception counselling where there is a relevant family history.

In the prenatal field, genetic testing is recommended based on individual risk levels, enabling the detection of genetic abnormalities before or during pregnancy and facilitating informed decisions with precision and confidence.

In the paediatric and developmental fields, genetic assessment helps to identify the molecular causes of growth disorders, neurodevelopmental disorders or congenital conditions, facilitating structured monitoring from the earliest stages of life.

Multidisciplinary integration and preventive planning

The department works in close collaboration with Oncology, Cardiology, Neurology, Endocrinology, Paediatrics and other specialities when the clinical situation requires it.

When a significant genetic predisposition is identified, monitoring, prevention or treatment strategies tailored to the individual’s profile are established, ensuring consistency of care and clinical continuity.

Planning is based on up-to-date international guidelines and precision medicine protocols.

Genetic counselling and support with complex decisions

Genetic information can have significant personal and family implications. For this reason, genetic counselling is an essential part of the care process.

Time is taken to explain the meaning of the results, their potential impact and the available options, thereby facilitating informed and thoughtful decision-making.

Follow-up care allows recommendations to be tailored and ensures continuity of care, combining scientific rigour, clear information and structured support.

This model combines a high degree of technical complexity with clinical care centred on the individual and their family environment.