- Slug: Genomic Testing,500
- Sidebar: About the testing.
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By ALEXA ARMSTRONG
Cronkite News
PHOENIX – To Bob Meyer, CEO of Phoenix Children’s Hospital, parents of children with chronic diseases such as congentital heart problems and cancer often are looking for more than a cure. They want to know why it’s happening.
“I believe, and most of our physicians believe, that the vast majority of chronic diseases in children are genetically based,” he said. listen
Meyer said the answer to finding out where these diseases start and how best to treat them is genome testing, a process in which DNA mutations are analyzed to pinpoint the orientation of a disease.
Phoenix Children’s has been doing its testing off-site. Results can take up to three months to get back and can cost millions to sequence an entire genome.
“We can’t have three months, a kid doesn’t have three months waiting for the sequencing, the results,” he said. listen
But soon the the hospital will be able to have genomic testing done on the premises, a change that Meyer said will cut the wait for results to seven days.
Phoenix Children’s found its solution in a partnership with Dr. Patrick Soon-Shiong, leading cancer researcher and founder of NantHealth, a company that provides online data infrastructure to share patient results and information.
These goals will be achieved via a supercomputer designed by Soon-Shiong. Phoenix Children’s will be the fourth hospital with the system.
All of Soon-Shiong computers share a database that allows doctors to compare and contrast patients’ results from all over the county to better treat diseases.
“The more and more genomes you have, the more research you can do, and then what are the more effective treatments,” Meyer said. “We are going to keep track of what’s working.” listen
This technology also will significantly reduce the cost of genomic testing, he said.
“The idea is to build an information network, a platform that makes all of these therapies available to everybody,” Meyer said. listen
Meyer said that studying DNA in this way will improve the way Phoenix Children’s treats patients with genetic diseases across the board.
He said this kind of testing isn’t just for the patients; it helps the families too.
“It gives them hope. I mean, if your child has failed a phase one clinical trial, up until we start using this, I mean that’s it. There is no next step, there’s not a second trial et cetera,” Meyer said. “This is now giving people a lot of hope for the next step.” listen
Melissa Wilson Sayres, an assistant professor at Arizona State University’s School of Life Sciences, said that for parents there can be pros and cons to understanding a child’s genetic disease.
“I’m a parent,” she said. “I have a 3-year-old, and I want to know why she is happy and why she is sad when you just see them being sick and you don’t know why that is it can be incredibly frustrating.” listen
But she said just finding out where the genetic mutation came from can be a step in the right direction.
“Maybe we are still figuring out how to fix it, but at least I know that one region or that area seems to be the place that is causing what is hurting my child,” she said. listen
“It doesn’t make it better, it doesn’t make your child feel better physically, but just knowing what is there can give some peace of mind that maybe we have a place that we can start looking,” she added. listen
David Flannery, medical director for American College of Medical Genetics and Genomics, said in an email that genetic testing will continue to gain popularity.
“In the next 5-10 years we anticipate that genetic testing will be used for personalized treatment; to identify persons’ risk for developing a disorder and then targeting an intervention to prevent it,” he said.
Meyer said that the supercomputer will be up and running at Phoenix Children’s Hospital by 2015.
“We have a long way to go, but it is very promising,” he said.
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Genetic testing and cancer:
• Genetic testing is broken down to three groups: gene tests, chromosomal tests and biochemical tests.
• Gene testing look for signs of a disease or mistake in a person’s in DNA or RNA. These tests can be taken from blood or other bodily fluids.
• Chromosomal tests looks at the number, structure and arrangement of a person’s chromosome. This test reveals whether a part of someone’s chromosome is unusual or missing.
• Biochemical tests take a closer look at the key proteins found in a genome. This kind of testing is common among newborns.
Source: genome.gov
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Bob Meyer, CEO of Phoenix Children’s Hospital, said a supercomputer that will provide genomic testing in-house will provide faster results at a lower cost than outsourcing. (Cronkite News Photo by Alexa Armstrong)