Genetic diagnoses efficiently and reliably
Reaching a correct genetic diagnosis in a timely manner allows for appropriate disease management and can significantly improve a patient’s quality of life. Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders.
In WES, protein-coding regions of all genes (~20,000) of the human genome, i.e. exome, are sequenced using next-generation sequencing technologies. While the exome constitutes only ~1% of the whole genome, 85% of all disease-causing mutations are located there.
Indeed, WES has not only been successful in identification of new disease genes but it is also a powerful method in clinical setting to identify the molecular basis of genetic disorders across various medical specialties.
The diagnostic yield of WES is higher than some traditional gene diagnostic methods. A definite diagnosis is typically obtained in 20-60% of cases, depending on the medical specialty, with severe, early-onset disorders having the highest diagnostic rates (The Deciphering Developmental Disorders Study 2014 Nature; Farwell et al. 2015 Genetics in Medicine; Stark et al. 2016 Genetics in Medicine).
Who benefits the most from WES?
WES is most suitable for individuals with:
- a complex, unspecific genetic disorder with multiple differential diagnoses
- a genetically heterogeneous disorder
- a suspected genetic disorder where a specific genetic test is not available
- unsuccessful previous genetic testing