Published on in Children's View
When scientists sequenced the first human genome, it took nearly 15 years and cost $2.7 billion. Today, the process can take just a few days, with costs approaching $1,000, and generates vast amounts of information — some of it meaningful, even lifesaving.
Now clinicians and researchers face a new challenge: managing the trove of genetic data at their fingertips, differentiating the meaningful from the benign, and using it to improve patients’ health.
Fuel for thought
Researchers at Children’s Hospital of Philadelphia have made many extraordinary advances in the field of personalized medicine over the past decade, including identifying an extremely rare genetic syndrome in 2015 — a breakthrough that brought comfort to parents who spent many years searching for the cause of their children’s symptoms. A recent $25 million gift from the Roberts family will help CHOP scientists advance their work even further. As part of the new $50 million Roberts Collaborative for Genetics and Individualized Medicine, clinicians and researchers from across CHOP will work together to better understand the benefits and risks of genetic testing — and use patients’ genetic information to tailor care for each child.
“This gift will allow us to take a very thoughtful and proactive approach to harnessing this technology to benefit children and families in a meaningful way,” says Ian Krantz, MD, Director of the newly named Roberts Individualized Medical Genetics Center (RIMGC), one of several areas at CHOP to benefit from the gift.
Krantz and other clinicians at CHOP have long used genetic testing to diagnose patients who have rare diseases and identify treatments that might help them. This new funding will allow the team to broaden the scope of their work to include patients from all divisions at CHOP, including those with common conditions like asthma, diabetes and autism. The RIMGC will serve as the main point of contact for patients, offering counseling and support and helping families — and their clinicians — understand the results of genetic tests. The RIMGC will also follow patients for many years to ensure that the latest discoveries in the field are integrated into their care.
What they learn along the way will help them improve care for individual patients — and for millions of people around the world. “This is a revolution in medicine, and we’re at the very cutting edge of it,” says Krantz. “There’s still so much we don’t understand, but places like CHOP and the Roberts Center will be at the forefront of diminishing that uncertainty and making the discoveries and breakthroughs that will make this information valuable to everyone.”
Precision in practice
Children’s Hospital is ushering in a new era of genetics for patients and broadening the scope of genetic medicine across all clinical areas through the creation of the Roberts Collaborative for Genetics and Individualized Medicine. With a $25 million gift, the Roberts family is the principal external funder of this $50 million initiative. In recognition of the family’s generosity, the first research building on CHOP’s new Schuylkill Avenue Campus will be known as the Roberts Center for Pediatric Research.
Core components of the Roberts collaborative include:
- Genetic diagnostics — through the efforts of the Division of Genomic Diagnostics.
- Clinical support and counseling — by the newly established Roberts Individualized Medical Genetics Center at CHOP’s Buerger Center for Advanced Pediatric Care, located on the Raymond G. Perelman Campus.
- Education — for patients, families and clinicians on genetic diagnostics.
- Training — of residents and medical students about individualized pediatric care.
- Informatics — developing innovative solutions to healthcare informatics needs through CHOP’s Department of Biomedical and Health Informatics.
- Therapeutics — identifying targeted therapeutic options based on an individual’s genetic information.
- Research and development – the creation of a data repository that will help fuel discovery of rare and complex traits, transforming them into novel diagnostic and therapeutic solutions.
Categories: Children's View Fall 2016