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Y.E.A. North America

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Leo Morgan
Leo Morgan

Genetica Medica Jorde Pdf 11



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.




Genetica Medica Jorde Pdf 11



The search for a definitive diagnosis is often very long, leading to even more suffering.(55. Aureliano WA. Trajetórias terapêuticas familiares: doenças raras hereditárias como sofrimento de longa duração. Cien Saude Colet. 2018;23(2):369-80.) 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.(66. Scheffer M, coordenador. Demografia Médica no Brasil 2018. São Paulo: FMUSP, CREMESP; Brasília (DF): CFM; 2018. p. 286 [citado 2020 Abr 26]. Disponível em: -content/uploads/DemografiaMedica2018.pdf -content/uploads... ) In most states, geneticists still work in capital cities.(77. Horovitz DD, Cardoso MH, Llerena Jr JC, Mattos RA. Atenção aos defeitos congênitos no Brasil: características do atendimento e propostas para formulação de políticas públicas em genética clínica. Cad Saude Publica. 2006;22(12):2599-609.)


A cross-sectional, retrospective study was conducted, based on review of medical records from the Medical Genetics Outpatient Clinic, located in Rio Grande, as well as on genetics consulting forms, between 2006 and 2018, excluding a 3-year period (2011, 2012, and 2013), and totaling up 10 years delivering care. During the withdrawal period, some patients were discharged or referred to another service.


The first consideration to be made is that this outpatient clinic is essentially an academic initiative, linked to a medical school. There is no contract with the Municipal Health Secretariat or the HU-FURG - the hospital only provides room for care, and it has not been accredited yet as a reference or specialized care service for rare diseases.


Another aspect to consider is that care takes place in an academic environment, linked to the department of medical genetics and to residency in pediatrics, which allows proximity to such problems for future professional life, and may reflect in a greater number of referrals over time.


This study has several limitations, starting with its descriptive design. It also does not include socioeconomic variables, or provide the profile of patients, except for health issues. Another limitation is the large number of patients still under investigation, suggesting the need for greater resoluteness. The delay in performing tests, the availability of some only through research projects, and the difficult access to complementary evaluations and imaging exams may be contributing factors to these regarding outpatient consultations. On the other hand, the hospital consultations seem to be a useful tool during hospitalization, for they can increase diagnostic accuracy, and also reduce the time to initiate therapy, whether curative or palliative. In addition, they guide the family and professionals towards prognosis, and affect costs by avoiding unnecessary tests. Greater agility for collection of tests during hospitalization, as well as the availability of highly complex exams, are probably related to the shorter resolution time. Furthermore, the three-year interruption period may have caused losses, since it was necessary to restart the registration and tabulation of patient data at the medical genetics outpatient clinic.


This type of service, provided at a medical school, is a teaching scenario and therefore, a training scenario, and may contribute in the long-term, to a greater professional interpellation and even to a greater number of medical geneticists who are physicians, decentralizing even more the service in genetics.


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