Advancing Diagnosis of Children with Unexplained Medical Complexity

Using genome sequencing, 15 of 49 previously undiagnosed children received a molecular diagnosis that often had relevance for clinical management.

Children who are medically complex are those with a chronic condition and dependence on medical technology who require involvement of multiple subspecialists and substantial expenditure of healthcare resources. They often lack a defined diagnosis despite standard genetic screening.

In a prospective cohort study, researchers evaluated the diagnostic value of genome sequencing in 49 medically complex children without a diagnosis. They had previously received genetic evaluation with chromosomal analysis and sometimes exome screening.

Most of the cohort self-identified race/ethnicity as white (53%), followed by South Asian (20%), and 59% were boys. Genome sequencing was performed in 138 individuals among the 49 children and their families. Most o…

Reviewing Author

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

F. Bruder Stapleton, MD

Disclosures

Consultant/Advisory BoardCareer Physician

Editorial BoardsUpToDate

Leadership Positions in Professional SocietiesAmerican Society of Pediatric Nephrology Foundation (Chair)

Advancing Diagnosis of Children with Unexplained Medical Complexity

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Reviewing Author