Genetic Testing: Basic Principles for the Pediatrician

Abstract

In this review, we describe current genetic testing modalities available for pediatricians, provide guidance on test selection and result interpretation, and inform providers on proper genetic testing consent practices. For each type of genetic test, details regarding types of mutations detected, limitations, and common genetic diagnoses detected are included. The most recent advances in pediatric genetic testing include adoption of next-generation sequencing (NGS), such as whole exome and whole genome sequencing (WES, WGS), at younger ages and earlier in clinical presentations. Using NGS decreases time to diagnoses, reduces medical expenses, and decreases patient morbidity/mortality. Pediatricians are positioned to become the first to encounter patients with genetic testing and it is essential for them to have a working knowledge of genetic testing. As genetic testing technologies rapidly improve, the amount of genetic information clinicians can obtain has increased, requiring competency in consenting for genetic tests, result interpretation, and genetic counseling. While NGS approaches greatly enhance genetic testing options, there are still situations that benefit from using older genetic testing modalities, such as karyotype and single-gene testing, and it is crucial for pediatricians to be aware of these nuances.