genetic changes causing disease
Conditions
Interventions
The control arm receives genetic care involving sequential gene-by-gene Sanger
sequencing guided by clinical phenotype, and the invention arm receives rapid
next generation sequencing (NGS), by whol
Sponsors
Genetica
Eligibility
Age
2 Years to 17 Years
Inclusion criteria
Inclusion criteria: We focus on critically ill neonates and patients with severe neurodevelopmental disorders of which it is expected that the condition has a genetic defect. ;In the Netherlands, ~4,100 critically ill newborns are annually admitted to the NICU. At least 6% of these patient (285 newborns) will suffer from such rare genetic condition, but due to ascertainment bias given the patient population we are facing, this percentage is likely to be an extreme underestimation.;The newborns with disease of suspected genetic origin may present with various symptoms e.g. encephalopathies, ataxia, growth retardation, seizures and/or MCA. Providing a differential diagnosis in these newborns is difficult as the symptoms are frequently aspecific and newborns are too young to show all recognizable features of disease.;For neurodevelopmental disorders, >3,500 patients are seen in tertiary clinical genetic centres.;Patients are eligable for inclusion if both the consulting clinical geneticist (and neonatologist for NICU [atients) believes that the cause of the symptoms observed in the patient could be of genetic origin, and when the patient has not had any other genetic testing done before.
Exclusion criteria
Exclusion criteria: Patient who are not eligable for inclusion are those who have (lifetreatening) disorder of clear non-genetic origin such as (birth)trauma, or those who have had genetic testing done before.
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| Secondary outcome measures: time-to-diagnosis, cost-of-diagnosis, cost-effectiveness, perspective analysis of joint decision-making process and the impact on therapeutic interventions. | — |
Primary
| Measure | Time frame |
|---|---|
| Primary outcome measure: number of definitive genetic diagnosis | — |
Countries
Netherlands
Outcome results
None listed