The expanding diagnostic toolbox for rare genetic diseases.
Nat Rev Genet
; 25(6): 401-415, 2024 Jun.
Article
em En
| MEDLINE
| ID: mdl-38238519
ABSTRACT
Genomic technologies, such as targeted, exome and short-read genome sequencing approaches, have revolutionized the care of patients with rare genetic diseases. However, more than half of patients remain without a diagnosis. Emerging approaches from research-based settings such as long-read genome sequencing and optical genome mapping hold promise for improving the identification of disease-causal genetic variants. In addition, new omic technologies that measure the transcriptome, epigenome, proteome or metabolome are showing great potential for variant interpretation. As genetic testing options rapidly expand, the clinical community needs to be mindful of their individual strengths and limitations, as well as remaining challenges, to select the appropriate diagnostic test, correctly interpret results and drive innovation to address insufficiencies. If used effectively - through truly integrative multi-omics approaches and data sharing - the resulting large quantities of data from these established and emerging technologies will greatly improve the interpretative power of genetic and genomic diagnostics for rare diseases.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Genômica
/
Doenças Raras
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article