Abstract
ABSTRACTObjective:To describe the population assisted in a genetics outpatient clinic, in a medium-sized town, with respect to diagnosis, type of inheritance, and local impact of genetic care.Methods:Medical records and genetic consultation forms from 2006 to 2018 were reviewed. The variables analyzed were age, sex, origin, current residence, reason for consultation, professional who requested evaluation, final diagnosis, additional exams and their results.Results:A total of 609 patients were seen, 65.9% aged 0 to 12 years. Genetic syndromes were suspected in 15.1%, and 11% presented developmental delay. Neurogenetic disorders stood out among adults. Mendelian inheritance was more prevalent (17.8%). Requests for genetic consultation have doubled in the last 5 years, with 44.4% due to suspected genetic syndrome.Conclusion:Genetic consultations have shown to be an important tool for inpatient care, reducing the waiting time to initiate treatment, attenuating potential associated costs, and guiding the families of patients. Outpatient care provided diagnosis and genetic counseling for users from the city and surrounding region, decreased costs and offered a training environment in medical genetics.
Highlights
Within the Unified Health System (SUS - Sistema Único de Saúde) the Ordinance 199/2014 by the Ministry of Health established the policy to care for rare diseases (RD), providing the structuring of care from prevention to rehabilitation
The search for a definitive diagnosis is often very long, leading to even more suffering.[5]. In contrast, Brazil has 305 physicians specialized in medical genetics, equivalent to a ratio of 0.15 specialist per 100 thousand inhabitants, and 60% of them working in the Southeast Region.[6]. In most states, geneticists still work in capital cities.[7]
609 patients were seen at the Medical Genetics Outpatient Clinic
Summary
Within the Unified Health System (SUS - Sistema Único de Saúde) the Ordinance 199/2014 by the Ministry of Health established the policy to care for rare diseases (RD), providing the structuring of care from prevention to rehabilitation. According to the World Health Organization (WHO), rare diseases are those that affect 65/100,000 individuals.[1] Genetic diseases can affect up to 73 per thousand individuals. [2] Congenital anomalies, mostly determined by genetic causes, affect 5% of newborns.[3] These conditions have a great impact on affected individuals and their families, because they lead to debilitating physical conditions and may involve several members of the same family, resulting in disability, unemployment, and discrimination.[4]. The search for a definitive diagnosis is often very long, leading to even more suffering.[5] In contrast, Brazil has 305 physicians specialized in medical genetics, equivalent to a ratio of 0.15 specialist per 100 thousand inhabitants, and 60% of them working in the Southeast Region.[6] In most states, geneticists still work in capital cities.[7]
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