Delivering paediatric precision medicine: Genomic and environmental considerations along the causal pathway of childhood neurodevelopmental disorders.
Sue Woolfenden, Michelle A Farrar, Valsamma Eapen and 7 others
PMID 35661141WHAT IT FOUND
Genetic diagnosis alone rarely offers a targeted treatment for most children with neurodevelopmental disorders.
A case study shows how poverty, rural isolation, and parental mental health can block access to gene therapy and allied health care, delaying development despite a precise diagnosis.
Key findings
01A confirmed genetic diagnosis leads to an effective targeted treatment for less than 10% of individuals with neurodevelopmental disorders.
02In a case study of a child with spinal muscular atrophy, psychosocial factors like rural distance, financial strain, and parental depression delayed treatment and hindered ongoing care, resulting in a suboptimal response to gene therapy.
03Authors propose a biopsychosocial framework for precision medicine that integrates genetic, inflammatory, metabolic, and psychosocial risk factors rather than focusing solely on genomic sequencing.
STILL TO COME
How it was doneWhat they found
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What it does not show
This is a review and opinion piece, not a study testing an intervention. It proposes a framework but does not provide evidence that this framework improves patient outcomes. The case study involves one child, so it cannot show how often these barriers occur or how much they affect outcomes on average. The paper argues for a change in research and clinical perspective but does not offer specific protocols or tools for therapists to implement this biopsychosocial approach in their current practice.
Declared interests
Funding was provided by the Petre Foundation, the Financial Markets Foundation for Children, and the National Health and Medical Research Council.
The easy way to misread this
Do not interpret this paper as evidence that a biopsychosocial approach has been tested and proven to improve motor or communication outcomes. It is a conceptual argument and a single case description, not a clinical trial result.