Whose Odyssey Is It? Family-Centered Care in the Genomic Era
Insights
Whole-genome sequencing aids in diagnosing developmental disorders like autism. A family-centered approach ensures genetic testing aligns with family values, improving the diagnostic journey.
Area of Science:
- Genetics
- Pediatrics
- Medical Diagnostics
Background:
- Many children with developmental disorders, including autism and intellectual disability, face prolonged diagnostic odysseys without specific medical answers.
- Current diagnostic approaches often fail to yield actionable diagnoses or treatments for these complex conditions.
Purpose of the Study:
- To explore the potential of whole-genome or whole-exome sequencing in advancing the diagnosis of developmental disorders.
- To emphasize the importance of a family-centered approach in genetic testing for pediatric conditions.
Main Methods:
- Review of the impact and implications of whole-genome and whole-exome sequencing in pediatric diagnostics.
- Discussion of a family-centered model for medical diagnostic evaluation.
Main Results:
- Whole-genome sequencing provides significant insights, often revealing more than anticipated, advancing the diagnostic process.
- The utility of genetic sequencing lies in its potential to provide helpful knowledge for the child and family.
Conclusions:
- Genetic sequencing represents a major advancement in the diagnostic odyssey for developmental disorders.
- A family-centered approach is crucial for navigating genetic testing, ensuring evaluations align with family values and needs.
Abstract:
Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder. In cases of autism and intellectual disability, relatively few children receive a specific diagnosis, and virtually none of those diagnoses lead to a specific medical treatment. Whole-genome or -exome sequencing offers a quantum leap in the diagnostic odyssey, in that we will always learn something from sequencing-sometimes much more than families bargained for, as discussed elsewhere in this special report. The trick is whether the knowledge gained will help the child and family. A family-centered approach gives families permission to choose but does not lay all of the responsibility on them. The goal is to pursue the degree of medical diagnostic evaluation that matches the family's values.
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