INVITED SPEAKERS / COMUNICAÇÕES POR CONVITE

 

CC-10

Genetic counseling

 

 

Ana Berta Sousa^I

^IServiço de Genética, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal. E-mail: anabertasousa@gmail.com

 

 

Genetic counseling is the process by which patients or relatives at risk of an inherited disorder are advised of the nature and consequences of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.

This complex process can be separated into diagnostic and supportive aspects.

Establishing a correct diagnosis is crucial, otherwise erroneous information will likely be given with potentially tragic consequences. Reaching a diagnosis involves three fundamental steps: taking a history, carrying out an examination and undertaking appropriate complementary investigations.

An etiological diagnosis allows precise risk estimation. Sometimes, even in the absence of a molecular diagnosis, a pattern of Mendelian inheritance may be clear from the family tree allowing the calculation of a recurrence risk. However, in many instances it is not possible to arrive to an accurate diagnosis and it is necessary to resort to empiric risks, derived from family studies rather than theoretical calculations. In all cases, recurrence risks should not only be quantified but need also to be qualified and placed in context.

The supportive aspects of the counseling process involve both communication and educational skills. Only an appropriately trained professional can help the individual or the family gain enough knowledge of the disorder and the options available for risk management to allow fully informed decisions without undue pressure or stress, in a way that promotes health, minimizes psychological distress and increases personal control.

These concepts will be illustrated with relevant clinical examples.