Pediatric Genomic Medicine About Genomics
Pediatric Genomic Medicine About Genomics

Unraveling the Mystery of Genetic Disease

There can be many mysteries a physician must attempt to solve when it comes to diagnosing a child's illness. Illnesses likely to be caused by abnormalities in genes can be some of the most complex. With over 8,000 genetic diseases, the clinical detective work can call for a vast number of tests which can continue for years without ever cracking the case.

The Center for Pediatric Genomic Medicine at Children's Mercy in Kansas City was created to help unlock the mysteries of pediatric genetic diseases. Here, a diverse team of specialists are developing new, better and faster ways of diagnosing genetic causes of disease and changing the way medicine is practiced around the world.

The first of its kind to be located inside a children's hospital, the Genome Center is also the world's first focused on genome sequencing and analysis of inherited children's diseases.

"Genetic diseases are different. They are a mistake caused in the DNA code," says Stephen Kingsmore, MB, ChB, BAO, DSc, FRCPath, Director of the Center for Pediatric Genomic Medicine at Children's Mercy. "Identifying those mistakes can be difficult. But once you have a genetic diagnosis, you have a specific treatment target and then the focus becomes treatments and outcomes. We're working to help get to that point quicker."

Dr. Kingsmore had the vision for the Center years ago. After travelling the country pitching his idea to hospitals and potential funders, when he got to Children's Mercy, they said "Look no further."

"They understood the vision of what we could do with this type of technology and how it could help advance the treatment of children overall," says Dr. Kingsmore.

To ensure the highest quality testing the Center for Pediatric Genomic Medicine features a multidisciplinary team. This includes board-certified clinical molecular geneticists, genetic counselors, bioinformatics experts, and pediatricians representing every subspecialty at Children's Mercy. They work in conjunction with computer engineers and software developers to produce information which helps physicians effectively order and interpret tests.

Working with the most advanced technology and scientific knowledge, the Center already is developing new genome analysis and computation capabilities to improve diagnoses and care for pediatric patients Two key offerings include the Targeted Gene Sequencing and Custom Analysis (TaGSCAN) test which focuses on more than 500 genes known to cause severe diseases with childhood onset and STAT-Seq genome analysis, used to provide results in hours rather than weeks for acutely ill neonates.

The breadth and speed of these tests and other information provided by the Center can be of great importance to doctors. Providers who have been ordering multiple, costly, tests over long periods of time to determine the cause of an illness can finally get rapid answers. Having a diagnosis gives the provider, patient and parents the information necessary to make important health care decisions.

Dr. Kingsmore sees genomics as the future of medicine and wants to continually innovate and to integrate it into patient care. His goal for the Center is to figure out new ways to make the tests faster, more affordable and better every six months.

Future collaboration with other health care professionals and institutions to further expand genetic medicine is also on the horizon.

"What we are learning and developing at Children's Mercy today helps kids everywhere," says Dr. Kingsmore. "We're not just helping a few, but developing a whole new way of practicing medicine."

 

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