Medical care in clinical genetics: an experience of decentralization in southern Brazil
Autor(a) principal: | |
---|---|
Data de Publicação: | 2021 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Einstein (São Paulo) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082021000100211 |
Resumo: | ABSTRACT Objective: 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. |
id |
IIEPAE-1_16e539da9bd99d02f2a44f5ce0c2ecb3 |
---|---|
oai_identifier_str |
oai:scielo:S1679-45082021000100211 |
network_acronym_str |
IIEPAE-1 |
network_name_str |
Einstein (São Paulo) |
repository_id_str |
|
spelling |
Medical care in clinical genetics: an experience of decentralization in southern BrazilGenetics, medicalHealth services researchEpidemiologyPublic HealthHospitals, universityABSTRACT Objective: 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.Instituto Israelita de Ensino e Pesquisa Albert Einstein2021-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082021000100211einstein (São Paulo) v.19 2021reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.31744/einstein_journal/2021ao5708info:eu-repo/semantics/openAccessMeneghini,Kevin Francisco DurigonKaram,Simone de MenezesMadruga,Victor Francis PereiraUngaretti,Andrea Schulz SilvaPinguello,Eduarda CeciliaSevero,Rafaelyeng2021-06-09T00:00:00Zoai:scielo:S1679-45082021000100211Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2021-06-09T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false |
dc.title.none.fl_str_mv |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
title |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
spellingShingle |
Medical care in clinical genetics: an experience of decentralization in southern Brazil Meneghini,Kevin Francisco Durigon Genetics, medical Health services research Epidemiology Public Health Hospitals, university |
title_short |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
title_full |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
title_fullStr |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
title_full_unstemmed |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
title_sort |
Medical care in clinical genetics: an experience of decentralization in southern Brazil |
author |
Meneghini,Kevin Francisco Durigon |
author_facet |
Meneghini,Kevin Francisco Durigon Karam,Simone de Menezes Madruga,Victor Francis Pereira Ungaretti,Andrea Schulz Silva Pinguello,Eduarda Cecilia Severo,Rafaely |
author_role |
author |
author2 |
Karam,Simone de Menezes Madruga,Victor Francis Pereira Ungaretti,Andrea Schulz Silva Pinguello,Eduarda Cecilia Severo,Rafaely |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Meneghini,Kevin Francisco Durigon Karam,Simone de Menezes Madruga,Victor Francis Pereira Ungaretti,Andrea Schulz Silva Pinguello,Eduarda Cecilia Severo,Rafaely |
dc.subject.por.fl_str_mv |
Genetics, medical Health services research Epidemiology Public Health Hospitals, university |
topic |
Genetics, medical Health services research Epidemiology Public Health Hospitals, university |
description |
ABSTRACT Objective: 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. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082021000100211 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082021000100211 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.31744/einstein_journal/2021ao5708 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
dc.source.none.fl_str_mv |
einstein (São Paulo) v.19 2021 reponame:Einstein (São Paulo) instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) instacron:IIEPAE |
instname_str |
Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
instacron_str |
IIEPAE |
institution |
IIEPAE |
reponame_str |
Einstein (São Paulo) |
collection |
Einstein (São Paulo) |
repository.name.fl_str_mv |
Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
repository.mail.fl_str_mv |
||revista@einstein.br |
_version_ |
1752129910544007168 |