RESUMO
An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized.
Assuntos
Bases de Dados Genéticas , Variação Genética , Genoma Humano , Mutação , Doenças do Sistema Nervoso/genética , Bases de Dados Factuais , Projeto Genoma Humano , Humanos , Comunicação Interdisciplinar , Cooperação InternacionalRESUMO
Prenatal screening for cystic fibrosis is reviewed. The disease, gene involved, molecular basis of disease, genotype/phenotype correlations and pilot trials are discussed, as well as historical perspectives, background and American College of Medical Genetics/American College of Obstetricians and Gynecologists recommendations. A number of complex challenges to the implementation of cystic fibrosis screening exist, including mutation testing of the cystic fibrosis transmembrane conductance regulator gene (CFTR), as well as laboratory and clinical issues. Current technologies for CFTR testing include reverse dot blots, amplification refractory mutation detection systems, oligonucleotide ligation assays, the Invader assay and NanoChip system. Emerging technologies are also considered, as well as quality assurance measures including analytical and clinical validation, reporting, residual risk calculations and prenatal diagnosis. An even greater challenge is clinical implementation, which focuses upon education and communication, choosing models, reporting, counseling and prenatal diagnosis.
Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/genética , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/tendências , Fibrose Cística/metabolismo , Testes Genéticos/métodos , Testes Genéticos/tendências , Genótipo , Humanos , Mutação/genética , Fenótipo , Controle de QualidadeRESUMO
This article focuses on essential components related to prenatal screening for cystic fibrosis, including the clinical disease, inheritance, prognosis and treatment, birth prevalence, and ethnic variability. The molecular basis of this disease is presented, including a discussion of the gene, mutations, and genotype/phenotype correlations. The models that have been used for delivering prenatal screening services in pilot trials are described, along with lessons learned, expected screening performance, and relevant ELSI considerations. A realistic view of laboratory issues is considered, including current standards of performance, guidelines and oversight, and quality assurance. Examples of current laboratory technologies for cystic fibrosis testing are displayed.
