[The utility of whole genome sequencing in rare disease diagnostics]. / Helgenomanalys vid sällsynta diagnoser ger stor patientnytta.
Lakartidningen
; 1182021 05 10.
Article
em Sv
| MEDLINE
| ID: mdl-33973225
ABSTRACT
If a disease affects fewer than 1 in 2 000, the European Union defines it as a rare disease. Globally, about 300 million people live with a rare disease, and in Sweden about 400 000. There are approximately 7 000 different rare diseases. The clinical picture varies from a single symptom to complex patterns with multiple organs affected, often combined with cognitive and motor impairment. At least 72 % of all rare diseases are genetic and 70% have childhood onset. Many patients are undiagnosed and do not receive optimal treatment. Today, only 5% of rare diseases have an approved treatment option. With modern genetic high throughput techniques, many disease-causing mutations are identified, increasing the possibility of personalized treatment and prevention strategies, designed by the individual's genetic conditions, i.e. precision medicine.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Raras
/
Medicina de Precisão
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Aspecto:
Patient_preference
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
Sv
Revista:
Lakartidningen
Ano de publicação:
2021
Tipo de documento:
Article