Roberta M Volpe-Aquino1, Isabella L Monlleó2, Elaine Lustosa-Mendes1,3, Amanda F Mora1, Agnes C Fett-Conte4, Têmis M Félix5, Ana C Xavier6, Rita Tonocchi3, Erlane M Ribeiro7, Rui Pereira8, Raquel T Boy da Silva9, Adriana A de Rezende10, Denise P Cavalcanti11, Vera L Gil-da-Silva-Lopes1. 1. Department of Medical Genetics, School of Medical Sciences, State University of Campinas - Unicamp, Campinas, SP, Brazil. 2. Clinical Genetics Service, School of Medicine, University Hospital, Federal University of Alagoas - Ufal, Maceió, AL, Brazil. 3. Assistance Center for Cleft Lip and Palate - CAIF-AFISSUR, Curitiba, PR, Brazil. 4. Department of Molecular Biology, Medical School of São José do Rio Preto - FAMERP/FUNFARME, São José do Rio Preto, SP, Brazil. 5. Medical Genetics Service, Clinical Hospital of Porto Alegre - HCPA, Porto Alegre, RS, Brazil. 6. Center for Research and Rehabilitation of Lip and Palate Lesions - CRRLPL, Centrinho Prefeito Luiz Gomes, Joinville, SC, Brazil. 7. Medical Genetics Service, Hospital Infantil Albert Sabin - HIAS, Fortaleza, CE, Brazil. 8. Institute of Integral Medicine, Prof. Fernando Figueira - IMIP, Recife, PE, Brazil. 9. Pedro Ernesto University Hospital, State University of Rio de Janeiro, RJ, Brazil. 10. Department of Clinical and Toxicological Analysis, School of Pharmaceutical Sciences; Hospital Onofre Lopes (HUOL), Federal University of Rio Grande do Norte (UFRN), Natal, RN, Brazil. 11. Perinatal Genetics Program, Department of Medical Genetics, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil.
Abstract
BACKGROUND: The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine. METHODS: Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies: Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided. RESULTS: We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. CONCLUSION: The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 110:72-80, 2018.
BACKGROUND: The World Health Organization has recognized the relevance of databases on craniofacial anomalies since . To date, there is no universal standard instrument/database focused on risk factors, clinical and genetic data collection, and follow-up that enables comparison between different populations and genotype-phenotype correlation. Although studies have shown that specific genes would impact outcomes, knowledge is not sufficient to subsidize cost-effectiveness strategies for diagnosis, surgical decision, and a multi-professional approach toward personalized medicine. METHODS: Based on a clinical genetic approach, a Web-based application named CranFlow-Craniofacial Anomalies: Registration, Flow, and Management has been developed. It prospectively collects clinical and genetic information for the Brazilian Database on Craniofacial Anomalies (syndromic and nonsyndromic orofacial cleft, 22q11.2 deletion syndrome, and other craniofacial related disorders). A comprehensive list of CranFlow's features is provided. RESULTS: We present preliminary results on 1546 cases already recorded and followed, which allows recognizing 10% of diagnosis changes. CONCLUSION: The identification of risk factors, consistent genetic approach associated with clinical data and follow-up result in valuable information to develop and improve personalized treatment and studies on genotype-phenotype correlation. Adoption of CranFlow in different clinical services may support comparison between populations. This application has the potential to contribute to improvements in healthcare, quality of services, clinical and surgical outcomes, and the standard of living of individuals with craniofacial anomalies. Birth Defects Research 110:72-80, 2018.
Authors: Elaine Lustosa-Mendes; Ana P Dos Santos; Társis P Vieira; Erlane M Ribeiro; Adriana A Rezende; Agnes C Fett-Conte; Denise P Cavalcanti; Têmis M Félix; Isabella L Monlleó; Vera Lúcia Gil-da-Silva-Lopes Journal: J Pediatr (Rio J) Date: 2020-07-21 Impact factor: 2.990