Profile of patients seen at a medical genetics outpatient clinic at a University Center in Belém, Pará, Amazon

Abstract

Medical Genetics (GM) has become a recognized medical specialty, with important concepts and approaches in the diagnosis and treatment of many common and rare diseases. Genetic diseases follow inheritance patterns, and may be autosomal recessive, autosomal dominant, linked to the X chromosome or Y chromosome, or multifactorial. The aim of this study was to determine the profile of patients treated at a GM outpatient Clinic at a University Center in Belém, Pará State. Data were collected from patient records, seen between 2014 and 2019, using the researchers’ own questionnaire, with data analyzed and tabulated through the Microsoft Excel program. A total of 101 medical records were analyzed, with predominance of females (51 patients). In addition, most of the care was for children (41.5%). Regarding ethnicity, only the variables “white” and “brown” were observed, with a higher prevalence of brown patients (78 of the total). Also, Belém was the most prevalent city in the naturalness of patients (61 records). The specialties with the highest number of referrals to the GM outpatient clinic were Endocrinology and Neurology, with Neuropsychomotor Development Delay being the most frequent diagnosis. In 42 medical records, the age at diagnosis was not present. Of the 101 patients, only 16 had genetic counseling and in the remaining 85 there was no record on this information. Finally, maternal age at birth was not found in most medical records (absent in 61.38%). Thus, developing a profile of the patient seen in a GM outpatient clinic is important, since it becomes possible to identify any failures in the service provided, in addition to adapting the doctor-patient relationship.