What is the Diagnostic Yield for Genetic Testing of Children with Neurodevelopmental Delays?

Discussion Children having significant neurodevelopmental disabilities are common with 17% of 3-17 year olds children having some type of such disability. Many are recommended to have genetic testing. Three main reasons for testing are determining the etiology, potential availability of targeted treatment or intervention, and determination of recurrence risk. But there are other pros and some cons to genetic testing which include: Pros Diagnosis is determined Improved understanding of diagnosis, natural history and prognosis for patient and family including decreased anxiety/guilt “Can end the diagnostic odyssey” Diagnosis specific treatment or management can be offered Improved medical services including access services/interventions, monitoring and followup and patient/family support groups Genetic counseling access for prenatal diagnosis and familial risk Access to research trials Cons Risks of venipuncture Diagnosis not determined Generally does not lead to a cure May not lead to changes in access to inventions/services Incidental findings identified Risk of insurability Risk of stigmatization, anxiety, guilt Families may not understand the testing and its potential implications One study noted that “[n]ormal results were identified as the worst results because it would not help explain the diagnosis and would lead to more investigations.” Learning Point While there are differences in recommendations from different professional societies, c...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news