Dr. Stephen Kingsmore

When physicians at Children's Mercy Hospitals and Clinics work to diagnose an inherited disease in their young patients, they have access to an amazing diagnostic tool that no other children's hospital in the world currently provides.

It was only 12 years ago that the first human genetic blueprint was meticulously created by hundreds of scientists, working nearly 10 years and at a cost of $3 billion. Fast forward to 2012, Dr. Stephen Kingsmore* and his team has developed a comprehensive genome-sequencing test that screens for 600 genetic diseases at a cost of $1,250.

"This test, which sequences the entire genome, is intended to replace individual tests that cost up to $5,000 apiece,” Kingsmore said. “So the patient is getting the equivalent of 600 individual gene tests for a cost of $1,250.”

Reading the child’s genome information – or DNA code – reveals far more patient information than ever before. Kingsmore compares it to “practicing medicine with a blindfold on and now we’re taking the blindfold off.”

“Up until now, medicine has been practiced without any understanding of the patient’s genetic code,” he said. “This next generation of medicine, individualized medicine, is being invented right now. There are centers across the United States that are starting to use genome information in medical practice. But we’re the first in a children’s hospital.”

After deciding to focus specifically on inherited childhood diseases, Kingsmore’s team of physicians, scientists and pathologists began working on the genetic test. The 600 diseases were selected from more than 3,500 genetic disorders because “they represent the working needs of a physician who studies childhood genetic diseases.” Their test will soon be available to physicians around the world, as it was recently licensed by Illumina, Inc. in San Diego.

“We want Children’s Mercy to be a pioneer in developing new technologies, and once we’ve validated them in clinical practice, we’ll offer them to our patients first and then make them available to other physicians,” Kingsmore said.

The Center’s genetic test has already made a difference in diagnosing and treating numerous patients at Children’s Mercy Hospital. Two young brothers were suffering from a severe inflammatory bowel disease that also affected the boys’ growth and development. A variety of treatments were tried unsuccessfully, and the younger boy eventually had to be fed intravenously.

“We did our testing and identified the DNA change that was causing the disease,” Kingsmore said. “Because we knew how the disease was caused, we could determine that a bone marrow transplant would be an effective treatment.” Physicians are now working with the boys’ parents to explain and schedule the treatment.

The work underway at the Center for Pediatric Genomic Medicine is slowly being publicized, and physicians around the world have begun asking for assistance in diagnosing children’s diseases. For example, Kingsmore and a colleague recently received email requests from physicians and researchers in Saudi Arabia, Turkey, India and Florida over a three-day period. However, those inquiries are likely to dramatically increase.

A white paper describing a new method to provide genetic information within just two days for seriously ill babies in the neonatal intensive care unit of Children’s Mercy Hospital has just been published in Science Translational Medicine. Kingsmore’s team built a software system – called SSAGA: Symptom and Sign Assisted Genome Analysis -- that enables a neonatologist to enter the baby’s symptoms, which then directs the computer to analyze specific regions of the genome and guides the pathologist on the areas to interpret. The support to pursue this type of work is what attracted Kingsmore to Children’s Mercy Hospital.

“We needed to be in a large, excellent hospital that also believed in what we believe – that genetic testing is the future of medicine,” he said. Children’s Mercy is illustrating its commitment to the Center’s work with a new 7,000 square foot, several million dollar facility scheduled to open in November.

“It’s a state-of-the-art facility,” Kingsmore said, “and there aren’t Centers like ours in other children’s hospitals anywhere.”

KCALSI has also demonstrated its support of the research Kingsmore’s team is pursuing. The Center was recently awarded a $50,000 Patton Trust Research Development Grant, which is administered by KCALSI, to identify the gene mutations that cause inherited childhood diseases. In addition, KCALSI has arranged meetings with state political leaders so that Kingsmore can discuss the Center’s groundbreaking work and its importance to the region.

“Community support is important, and KCALSI was one of the first organizations to say we believe in your work,” Kingsmore said.

“What we’re doing is a little bit ahead of the curve. Ninety-nine percent of the healthcare innovation in this country happens either in a region from Boston to New Jersey, or from San Francisco to San Diego,” he said. “Some people just can’t believe that this could be happening in Kansas City. What we’re doing in genetic testing is unique, and we’re one of the first in the world to do some of things we do.

“The goal is to simplify genome testing, shrink it down and reduce the cost so that in the future, this will be a simple, routine test.”

*Since posting this video and article, Stephen Kingsmore has moved to Rady's Children's Hospital.