There are millions of patients with undiagnosed neurological genetic diseases, the majority of them being children. For disorders with overlapping clinical characteristics or an unspecific clinical presentation, it is especially difficult to pinpoint a diagnostic strategy. Moreover, a delayed diagnosis can have a dramatic impact on treatment consequences and the quality of life of patients and their families.
WES provides a fundamental shift in the diagnosis of neurological diseases with significant advantages over traditional genetic testing, eventually leading to distinct treatments and therapies that can completely change the lives of patients.
Fast & accurate
WES can directly identify or confirm a diagnosis; or uncover a biological cause that is often not possible using conventional genetic testing such as single-gene testing or microarrays.
This can end your patients’ “diagnostic journey” and avoid additional unnecessary testing.
Using WES as a first-tier test to diagnose complex neurological cases and/or undiagnosed cases removes the need for additional evaluations, thus reducing costs for families, insurers, and hospitals.
Improved clinical management
WES improves your ability to recommend targeted, appropriate medical care and avoid costly treatments that may be unnecessary.
It can also identify recurrence risk and facilitate genetic counseling to family members.
Scientific research confirms the superiority of WES
According to a recent study conducted at CENTOGENE, that was published in the European Journal of Human Genetics1, the superiority of clinical WES over standard genetic tests is illustrated by the broad simultaneous coverage of thousands of genes at low cost and with a fast turnaround time.
In this study, CENTOGENE processed samples from 1,000 families represented by a clinically and ethnically heterogeneous cohort. The majority of the patients (77%) had abnormalities of the nervous system with global developmental delay, seizures, and brain malformations as the most common indications. The global WES diagnostic yield was more than 31%, which is a considerably higher rate than for standard genetic tests.
The authors concluded that WES is a low-cost and efficient first-tier genetic analysis in patients with non-specific and/or heterogeneous phenotypes, and that widespread WES implementation would allow for more tailored medical care.
Learn about the benefits of applying WES in your practice
1Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, et al. (2017). “Clinical exome sequencing: Results from 2819 samples reflecting 1000 families”. Eur J Hum Genet 25(2):176-182.