Genomic Testing Is Making Strides In Leading Children's Hospitals Across The Nation

There is a genomic medicine revolution currently spreading across leading children’s hospitals across the country. Although still in the early stage, genomic testing is transforming the diagnosis and treatment of numerous childhood illnesses, researchers said at the 2016 U.S. News Healthcare of Tomorrow Conference in Washington.

"Clearly we're at an early pioneering stage of using genome information with children," said Dr. Stephen Kingsmore, president and chief executive officer of Rady Children's Institute for Genomic Medicine in San Diego.

The researchers also said that the methods being tested in a handful of top research institutions across the nation will soon become routine in children's hospitals everywhere.

It was three decades ago when scientists first reported genetic variations in leukemia patients. This remarkable discovery greatly influenced the course of their disease diagnosis, and now scientists and doctors are delving deeper.

The power of genomic testing

Genomic testing has shown that cancers once thought to be a single disease are actually many and their differences are decided by discrete genetic mutations. Scientists have been using this information as a model for their treatment. They have also begun to pinpoint and register genetic variations associated with certain birth defects and a list of genetic diseases that are hard to diagnose.

For the genomic testing researchers sequence the so-called germ-line DNA – the DNA found in the egg and sperm and is the source of all other DNA in the body.

Next, the researchers compare this DNA with DNA taken from the tumor, which enables them to identify abnormalities that might otherwise have been missed.

The challenge now faced by the researchers is to determine what these abnormalities mean. 

St. Jude Children's Research Hospital has invested $100 million in St. Jude’s Pediatric Genome Project to study the genomes of every pediatric cancer patient seeking treatment at the institution.

Dr. F. Sessions Cole, chief medical officer at St. Louis Children's Hospital said his team is focusing on structural birth defects.  The condition affects an estimated 120,000 newborns each year.

Dr. Kingsmore and his team at Rady have focused their attention on the small proportion of infants who visit the intensive care unit for the newborns. But their wide net includes 8,300 illnesses that are the leading causes of death among these critically ill infants. 

However, using genomic testing, the analysis can be narrowed to one disease.

If this approach were included in the treatment of all pediatric ICU patients in San Diego, doctors would likely diagnose more than 150 children with treatable diseases each year, according to Kingsmore.