Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.

ABSTRACT:

Importance

Children with medical complexity (CMC) represent a growing population in the pediatric health care system, with high resource use and associated health care costs. A genetic diagnosis can inform prognosis, anticipatory care, management, and reproductive planning. Conventional genetic testing strategies for CMC are often costly, time consuming, and ultimately unsuccessful.

Objective

To evaluate the analytical and clinical validity of genome sequencing as a comprehensive diagnostic genetic test for CMC.

Design, setting, and participants

In this cohort study of the prospective use of genome sequencing and comparison with standard-of-care genetic testing, CMC were recruited from May 1, 2017, to November 30, 2018, from a structured complex care program based at

SUBMITTER: Costain G 

PROVIDER: S-EPMC7509619 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature