The role of the medical geneticist in the pediatric consultation

Abstract

The work of the medical geneticist is, from the clinical point of view, scarcely known. His healthcare-related activity requires close collaboration with specialists in different fields; hence, it is vital for the physician directly in charge of the patient to have at hand some useful recommendations in order to make care provided by the multidisciplinary team efficient and timely. The purpose of this paper is to outline some of the professional features of medical genetics specialists and to describe, in general terms, the work in clinical genetics, as well as to inform first contact clinicians – especially pediatricians – about the clinical and imaging studies they should order for patients with the most common congenital conditions before referring them for diagnostic or genetic counseling. It is important to point out that the communication process between the treating clinician and his/her patients (which in pediatric patients is with the family) is essential not only with regard to the reason for referral to the medical genetics department, but also for the family to be able to obtain information prior to the appointment, so that time and quality of care are improved once the genetics consultation takes place. Finally, this manuscript outlines the requirements for the communication between specialists, in order for them to promote and provide knowledge on medical genetics at all levels of care, for the benefit of patients.