Genetic testing for paediatric neurological disorders
Enza Maria Valente1, Alessandro Ferraris, Bruno Dallapiccola
1Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy. e.valente@css-mendel.it
Insights
Genetic testing for paediatric neurological disorders improves diagnosis and counselling. However, careful consideration of test appropriateness, results interpretation, and ethical concerns is crucial for effective genetic counselling.
Area of Science:
- Pediatric Neurology
- Medical Genetics
- Clinical Diagnostics
Background:
- Paediatric neurological disorders are clinically diverse, with a significant proportion having genetic origins.
- Advances in molecular testing and nosological classifications have revolutionized diagnosis and management.
- Genetic testing availability for these conditions is rapidly increasing.
Purpose of the Study:
- To review the impact of genetic testing on paediatric neurological disorders.
- To discuss the challenges and ethical considerations associated with increased genetic testing.
- To explore how these factors influence genetic counselling.
Main Methods:
- Literature review of recent advances in paediatric neurology and genetic testing.
- Analysis of diagnostic strategies, molecular testing protocols, and result interpretation.
- Examination of ethical, social, and counselling implications.
Main Results:
- Improved diagnostic accuracy and personalized management for paediatric neurological conditions.
- Enhanced possibilities for prenatal diagnosis in affected families.
- Emergence of complex questions regarding test selection, interpretation, and ethical implications.
Conclusions:
- Genetic testing offers significant benefits for paediatric neurological disorders but requires careful navigation.
- Addressing appropriateness, interpretation, and ethical concerns is vital for optimal genetic counselling.
- Future strategies must balance diagnostic advancements with patient welfare and societal considerations.
Abstract:
Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.
Related Concept Videos
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...