Genetic Sequencing: The Missing Puzzle Piece

Geneticists and critical care specialists are collaborating to arrive at more accurate diagnoses

October 20, 2018

Children are often admitted to the Pediatric Intensive Care Unit (PICU) for unusual and puzzling symptoms, such as intractable seizures or acidosis, which often indicate an underlying genetic disorder. To avoid harmful, inaccurate diagnoses and ineffective treatment, Columbia and NewYork-Presbyterian Morgan Stanley Children’s Hospital have recently initiated a pilot project to offer rapid genetic sequencing to children in the PICU. The researchers believe that giving families and their healthcare providers an earlier clinical diagnosis, along with critical information regarding the child’s prognosis, will help establish realistic inpatient goals, maximize family support, and ultimately decrease the length of the PICU stay.

The effectiveness of genetic sequencing depends on a number of factors states Steve Kernie, MD, professor of pediatrics, pathology & cell biology at the Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian/Columbia University Irving Medical Center, who is collaborating with Wendy Chung, MD, PhD, professor of pediatrics at the Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian/Columbia University Irving Medical Center. They are focusing  on younger children with neurological conditions because, according to Professor Chung, conditions that are more severe are usually present earlier and because neurological conditions tend to be genetic and are thus more likely to be diagnosed via sequencing.

During the several months since the project began, four of the seven children sequenced received a definitive diagnosis, “an extremely high rate,” Professor Kernie points out. Similar studies examining the diagnostic impact and cost effectiveness of whole exome sequencing report detection rates of approximately 40-60% in children sequenced.

In many cases, the results of genetic testing also alter the approach for patients, enabling doctors to discontinue unnecessary treatments, while implementing productive ones.

While the main goal of the study is to determine whether a genetic result can advantageously shift the trajectory of a child’s clinical treatment, another potential benefit is shortening stays in