RESUMO
Carrier screening has historically assessed a relatively small number of autosomal recessive and X-linked conditions selected based on frequency in a specific subpopulation and association with severe morbidity or mortality. Advances in genomic technologies enable simultaneous screening of individuals for several conditions. The American College of Medical Genetics and Genomics recently published a clinical practice resource that presents a framework when offering screening for autosomal recessive and X-linked conditions during pregnancy and preconception and recommends a tier-based approach when considering the number of conditions to screen for and their frequency within the US population in general. This laboratory technical standard aims to complement the practice resource and to put forth considerations for clinical laboratories and clinicians who offer preconception/prenatal carrier screening.
Assuntos
Triagem de Portadores Genéticos , Testes Genéticos , Genética Médica , Genômica , Diagnóstico Pré-Natal , Humanos , Triagem de Portadores Genéticos/métodos , Triagem de Portadores Genéticos/normas , Gravidez , Feminino , Genômica/métodos , Genômica/normas , Diagnóstico Pré-Natal/métodos , Diagnóstico Pré-Natal/normas , Testes Genéticos/normas , Testes Genéticos/métodos , Genética Médica/normas , Estados Unidos , Cuidado Pré-Concepcional/métodos , Cuidado Pré-Concepcional/normas , Aconselhamento Genético/normas , Aconselhamento Genético/métodosRESUMO
Clinical genetic laboratories must have access to clinically validated biomedical data for precision medicine. A lack of accessibility, normalized structure, and consistency in evaluation complicates interpretation of disease causality, resulting in confusion in assessing the clinical validity of genes and genetic variants for diagnosis. A key goal of the Clinical Genome Resource (ClinGen) is to fill the knowledge gap concerning the strength of evidence supporting the role of a gene in a monogenic disease, which is achieved through a process known as Gene-Disease Validity curation. Here we review the work of ClinGen in developing a curation infrastructure that supports the standardization, harmonization, and dissemination of Gene-Disease Validity data through the creation of frameworks and the utilization of common data standards. This infrastructure is based on several applications, including the ClinGen GeneTracker, Gene Curation Interface, Data Exchange, GeneGraph, and website.