Genetic counseling: a medical approach

Abstract

The expanding role of genetics in almost every clinical condition is associated with the increasing development of new genetic and molecular test, and implementation of these tests is becoming well integrated into medical practice. Therefore, primary care providers, family doctors, pediatricians, and other specialists involved in the care of patients and families affected by genetic conditions will be largely concerned with both genetic tests and genetic counseling. That process may be considered in several stages: collecting genetic information and pedigree drawing; making or validating the diagnosis; estimating occurrence and recurrence risk; communicating clinical information; and supporting the family to reach a decision and take appropriate action. However, the term "genetic counseling" is often used to describe the entire approach to patients and families with genetic conditions, sometimes being restricted to the communication and psychotherapeutic process. Consequently, the separation of clinical from supportive process had an important role in most definitions of genetic counseling. Should all those aspects be considered parts of a single process? This is the main question that will be discussed hereafter, under the hypothesis that the synthesis of all those steps should be required to approach any genetic conditions. In that view, rethinking of genetic counseling from a medical point of view should be seen as an important subject for discussion, and might contribute to bring together clinical and nonmedical aspects.