https://observatorio.fm.usp.br/handle/OPI/39285
Title: | Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases |
Authors: | QUAIO, Caio Robledo D'Angioli Costa; MOREIRA, Caroline Monaco; NOVO-FILHO, Gil Monteiro; SACRAMENTO-BOBOTIS, Patricia Rossi; PENNA, Michele Groenner; PERAZZIO, Sandro Felix; DUTRA, Aurelio Pimenta; SILVA, Rafael Alves da; SANTOS, Monize Nakamoto Provisor; ARRUDA, Vanessa Yurie Nozaki de; FREITAS, Vanessa Galdeno; PEREIRA, Vinicius Ceola; PINTAO, Maria Carolina; FORNARI, Alexandre Ricardo dos Santos; BUZOLIN, Ana Ligia; OKU, Andre Yuji; BURGER, Matheus; RAMALHO, Rodrigo Fernandes; ANTONIO, David Santos Marco; FERREIRA, Elisa Napolitano e; PEREIRA, Otavio Jose Eulalio; CANTAGALLI, Vanessa Dionisio; TRINDADE, Ana Carolina Gomes; SOUSA, Rafaela Rogerio Floriano de; FURUZAWA, Cintia Reys; VERZINI, Fernanda; MATALHANA, Shirley Dezan; ROMANO, Naiade; PAIXAO, Daniele; OLIVATI, Caroline; SPOLADOR, Gustavo Marquezani; MACIEL, Gustavo Arantes Rosa; ROCHA, Viviane Zorzanelli; MIGUELEZ, Javier; CARVALHO, Mario Henrique Burlacchini de; SOUZA, Alexandre Wagner Silva de; ANDRADE, Luis Eduardo Coelho; CHAUFFAILLE, Maria de Lourdes; PERAZZIO, Aline dos Santos Borgo; CATELANI, Ana Lucia Pereira Monteiro; MITNE-NETO, Miguel; KIM, Chong Ae; BARATELA, Wagner Antonio da Rosa |
Citation: | AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, v.184, n.4, Special Issue, p.955-964, 2020 |
Abstract: | Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant conditions, followed by autosomal recessive (25.6%) and X-linked (12.8%) conditions. These patients harbored 195 variants, among which 43.6% are novel in the literature. The rate of molecular diagnosis was considerably higher for prenatal samples (67%; 4/6), younger children (44%; 24/55), consanguinity (50%; 3/6), gastrointestinal/liver disease (44%; 16/36) and syndromic/malformative conditions (41%; 72/175). For 15.6% of the cohort patients, we observed a direct potential for the redirection of care with targeted therapy, tumor screening, medication adjustment and monitoring for disease-specific complications. Secondary findings were reported in 37 patients (7.4%). Based on cost-effectiveness studies in the literature, we speculate that the reports of secondary findings may influence an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient. ES is a powerful method to identify the molecular bases of monogenic disorders and redirect clinical care. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MOG Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - HC/InCor Artigos e Materiais de Revistas Científicas - LIM/36 Artigos e Materiais de Revistas Científicas - LIM/57 Artigos e Materiais de Revistas Científicas - LIM/58 Artigos e Materiais de Revistas Científicas - ODS/03 |
File | Description | Size | Format | |
---|---|---|---|---|
art_QUAIO_Diagnostic_power_and_clinical_impact_of_exome_sequencing_2020.PDF Restricted Access | publishedVersion (English) | 1.23 MB | Adobe PDF | View/Open Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.