Research Topic

Genetic Testing in Pediatric Disorders

About this Research Topic

Advances in genomic technology have improved the diagnostic speed and yield in pediatric genetic disorders during childhood, at birth and prenatally. For example, newly discovered gene defects are able to be used to further characterize disease and progression along with genotype-phenotype correlations. The determination of the molecular basis of disease uncovers new targeted approaches for disease-specific therapeutic options and for more directed genetic counseling for family members. These advances are also accompanied by an ethical responsibility to utilize information gained to directly impact patient care and decisions made to be built upon molecular knowledge and to cultivate personalized medicine approaches specific to syndromes or more generalizable to characteristics of a disorder (e.g., intellectual disability, birth defects, obesity) that could help a greater population of individuals.

This Research Topic of Frontiers in Pediatrics focuses on the current status of genetic testing starting with a patient-centered approach that incorporates ethics into the consideration of when, why, and how to perform. The aim is to appeal to primary providers and subspecialists in an era in which genetic testing has become more commonplace in all areas of medical practice. We will suggest an approach for first tier testing, laboratory selection and describe the sensitivity and specificity for detecting the molecular basis of disease depending on the particular disorder. A framework for considering rare disorders, congenital anomalies, genetic causation of intellectual disabilities, and behavioral problems will be illustrated along with current reviews of selected topics including biochemical genetics, newborn screening and prenatal testing.

Those interested in the current understanding of genetic causes and contributing factors when assessing pediatric disorders and caring for affected patients should find this Research Topic useful. Basic laboratory researchers engaged in identifying genetic factors associated with disease, testing for pediatric disorders including in the newborn and prenatally along with developing novel approaches for treatment will find a concise overview to inform general approaches. Pediatricians, health care professionals such as neurologists, psychologists, psychiatrists, clinical geneticists and genetic counselors, special education teachers, child-life experts, developmental specialists, nurses, social workers, therapists (physical, occupational, speech), public health experts, and insurance providers would find this resource informative and useful. In addition, students and trainees attempting to grasp the vast field of genetics will find the classifications and general approaches essential to making an evolving field accessible. Ethical considerations and diagnostic protocols will be quickly applicable to artfully and uniformly approach patients in clinic. Parents, family members, and agencies involved in caring and providing services of those affected with genetic disorders in the pediatric age group and prenatally would be served by information provided in this Research Topic on genetic testing of pediatric disorders.


Keywords: Genetic testing, Next-generation sequencing, microarrays, Pediatrics, gene variants


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Advances in genomic technology have improved the diagnostic speed and yield in pediatric genetic disorders during childhood, at birth and prenatally. For example, newly discovered gene defects are able to be used to further characterize disease and progression along with genotype-phenotype correlations. The determination of the molecular basis of disease uncovers new targeted approaches for disease-specific therapeutic options and for more directed genetic counseling for family members. These advances are also accompanied by an ethical responsibility to utilize information gained to directly impact patient care and decisions made to be built upon molecular knowledge and to cultivate personalized medicine approaches specific to syndromes or more generalizable to characteristics of a disorder (e.g., intellectual disability, birth defects, obesity) that could help a greater population of individuals.

This Research Topic of Frontiers in Pediatrics focuses on the current status of genetic testing starting with a patient-centered approach that incorporates ethics into the consideration of when, why, and how to perform. The aim is to appeal to primary providers and subspecialists in an era in which genetic testing has become more commonplace in all areas of medical practice. We will suggest an approach for first tier testing, laboratory selection and describe the sensitivity and specificity for detecting the molecular basis of disease depending on the particular disorder. A framework for considering rare disorders, congenital anomalies, genetic causation of intellectual disabilities, and behavioral problems will be illustrated along with current reviews of selected topics including biochemical genetics, newborn screening and prenatal testing.

Those interested in the current understanding of genetic causes and contributing factors when assessing pediatric disorders and caring for affected patients should find this Research Topic useful. Basic laboratory researchers engaged in identifying genetic factors associated with disease, testing for pediatric disorders including in the newborn and prenatally along with developing novel approaches for treatment will find a concise overview to inform general approaches. Pediatricians, health care professionals such as neurologists, psychologists, psychiatrists, clinical geneticists and genetic counselors, special education teachers, child-life experts, developmental specialists, nurses, social workers, therapists (physical, occupational, speech), public health experts, and insurance providers would find this resource informative and useful. In addition, students and trainees attempting to grasp the vast field of genetics will find the classifications and general approaches essential to making an evolving field accessible. Ethical considerations and diagnostic protocols will be quickly applicable to artfully and uniformly approach patients in clinic. Parents, family members, and agencies involved in caring and providing services of those affected with genetic disorders in the pediatric age group and prenatally would be served by information provided in this Research Topic on genetic testing of pediatric disorders.


Keywords: Genetic testing, Next-generation sequencing, microarrays, Pediatrics, gene variants


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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Submission Deadlines

31 March 2019 Abstract
01 June 2019 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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Topic Editors

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Submission Deadlines

31 March 2019 Abstract
01 June 2019 Manuscript

Participating Journals

Manuscripts can be submitted to this Research Topic via the following journals:

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