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: Pediatric Education Tags: Uncategorized Source Type: news
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