Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies

Author(s)

Gil-da-Silva-Lopes, Vera Lucia ^[1] ; Barros Fontes, Marshall Italo ^[2] ; dos Santos, Ana Paula ^[1] ; Appenzeller, Simone ^[3] ; Fett-Conte, Agnes Cristina ^[4] ; Cano Francisquetti, Marina Cristine ^[4] ; Monlleo, Isabella Lopes ^[5]

Affiliation

^[1] Univ Estadual Campinas, Sch Med Sci, Dept Med Genet & Genom Med, Campinas, SP - Brazil

^[2] State Univ Hlth Sci Alagoas, Maternal Child & Adolescent Hlth Ctr, Ctr Maternal & Child Hlth, Hlth Sci Ctr, Maceio - Brazil

^[3] Univ Estadual Campinas, Sch Med Sci, Dept Med, Campinas, SP - Brazil

^[4] Fac Med Sao Jose do Rio Preto, Dept Mol Biol, Genet Serv, Hosp Base, Sao Jose Do Rio Preto - Brazil

^[5] Univ Fed Alagoas, Univ Hosp, Clin Genet Serv, Fac Med, Maceio - Brazil

• Document type: Journal article
• Source: PUBLIC HEALTH GENOMICS; v. 22, n. 1-2, p. 69-75, 2019.
• Web of Science Citations: 0

Abstract

Addressing the unmet health needs of persons living with congenital anomalies in low- and middle-income countries (LMIC) is a major challenge. Registries and databases are exemplary tools capable to link research data with health programs. Since 2009, Brazil's Craniofacial Project, a multicenter and voluntary research initiative, collects socioeconomic, medical, and genetic information on individuals with craniofacial anomalies through the Brazilian Database on Craniofacial Anomalies (BDCA). This article discusses challenges to the provision of genetic assessment and counselling for individuals with syndromic oral clefts (SOC) through public health services in LMIC, such as Brazil. Subjects were selected using methods of the BDCA as described elsewhere. Among 800 records, 66 assigned as SOC with no etiologic diagnosis were preselected for genomic imbalance screening. Only 28 have timely completed basic protocol using public health services, and 22 were able to perform chromosomal microarray analysis. Pathogenic genomic imbalances were identified in 4 (18.18%) and a copy number variation of uncertain clinical significance was detected in one. Results exemplify barriers faced by the majority of the population of Brazil to reach whole genetic assessment either through public genetic services or in research settings. In this unfavorable scenario, BDCA has allowed the recognition of individuals with similar needs, optimizing the scarce genetic laboratory facilities in Brazil. Ultimately, BDCA has facilitated the translation of research into care. This experience may be successfully extended to other congenital anomalies and to LMIC with similar characteristics. A set of suggestions focusing on oral clefts is provided. (AU)

• FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)