Knowledge in Medical Genetics for the action of medical graduates in Primary Health Care

Abstract

Medical Genetics (GM) plays an important role in public policies for the prevention, control and treatment of diseases. The establishment of a minimum GM curriculum by the Brazilian Society of Medical Genetics and Genomics (SBGM) was a milestone for medical training. The present study aimed to list the main knowledge, skills and attitudes in GM that medical graduates must have for the correct management of patients in Primary Health Care. Fourteen studies were used on the teaching of GM in medical courses, published in Portuguese, English and Spanish between 2010 and 2020, excluding studies developed within the scope of medical residency and with other professionals. The profile of minimum competences in GM includes: identification of the most frequent genetic conditions; adequate communication of these conditions to families, helping decision-making; correct clinical management in accordance with current guidelines; and knowing when to refer the patient and family to the geneticist physician and for psychological and social support. Anamnesis, physical examination, with special attention to anthropometry and dysmorphology, and collection of family history with construction of a pedigree with at least three generations are basic skills required of the graduate. It is suggested that medical schools can insert and/or adapt the profile proposed by the SBGM to improve medical training. The minimal knowledge of GM, new screening methods and referral protocols by the egress promotes a better flow of patients through the Unified Health System, mitigating the suffering of patients and families.