DANVILLE, Pa., Jan. 30, 2015 /PRNewswire-USNewswire/ -- David H. Ledbetter, executive vice president and chief scientific officer at Geisinger Health System, joined national genetics experts Friday at a White House briefing where President Barack Obama discussed the importance of Precision Medicine and to announce his initiative for the genomic sequencing of one million people. "We've invited some of America's brightest minds in medicine and technology," President Obama said. "The Precision Medicine Initiative we're launching today will lay the foundation for a new generation of lifesaving discoveries."
Specifics of the president's plan are expected to be included in the federal budget to be released Feb. 2. In addition, several genomic research experts, including Dr. Ledbetter, will attend a Feb. 11-12 National Institute of Health (NIH) –sponsored think tank on "Building a Large U.S. Cohort for Precision Medicine Research," also spurred by the State of the Union address.
Geisinger, in collaboration with the Regeneron Genetics Center LLC, a wholly-owned subsidiary of Regeneron Pharmaceuticals, Inc., a biopharmaceutical company, is already engaged in a large-scale genomics effort designed to identify gene variants associated with human disease. This collaboration, announced in January 2014, is a few steps ahead of the new federal initiative, having already sequenced the exomes – portions of the genome that provide protein coding – of more than 25,000 people, with plans to sequence 250,000 or more. Geisinger will be able to provide the participants with any validated results of the sequencing that shows risks for disease, but others looking at the data will not have access to any identifying information on the participants.
The Washington, D.C. announcement built on the president's recent State of the Union address.
"I want the country that eliminated polio and mapped the human genome to lead a new era of medicine -- one that delivers the right treatment at the right time," the president said last week. "In some patients with cystic fibrosis, this approach has reversed a disease once thought unstoppable. Tonight, I'm launching a new Precision Medicine Initiative to bring us closer to curing diseases like cancer and diabetes -- and to give all of us access to the personalized information we need to keep ourselves and our families healthier."
"The administration is launching an effort quite similar to a major project we started in January of last year and we are well on our way," Dr. Ledbetter said.
Projects such as the Geisinger-Regeneron collaboration and the Precision Medicine Initiative have the potential to improve health and in some cases, save lives through earlier diagnosis and treatment, Dr. Ledbetter said, and by determining who can be most helped by new drugs that improve or cure a subset of any given disease category. "Those are lives that are being saved."
President Obama mentioned Bill Elder, who 20 years ago was diagnosed with cystic fibrosis. "But it turns out Bill is one of 4 percent of cystic fibrosis patients whose disease is caused by a particular mutation in one gene. And a few years ago, the FDA fast-tracked a new drug target specifically targeting that mutation. And one night in 2012, Bill tried it for the first time. Just a few hours later he woke up, knowing something was different, and finally he realized what it was: He had never been able to breathe out of his nose before."
"Today, Bill is in his third year of medical school. And "for the first time in my life," Bill said -- he says, 'I truly believe that I will live long enough to be a grandfather,' the president said.
With its nearly 20 years of experience in electronic health records and more than 80,000 patients who have consented to provide samples and participate in research, Geisinger already has the infrastructure in place to achieve the sequencing goal.
Geisinger's biobank, the MyCode® Community Health Initiative, is collecting blood samples from consented participants as part of this project. The information gleaned from those samples will contribute to a broad range of research aimed at understanding, preventing or improving treatments for disease. The privacy of the patients' samples and medical records are rigorously guarded.
About Geisinger Health System
Geisinger Health System is an integrated health services organization widely recognized for its innovative use of the electronic health record, and the development of innovative care models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation's largest rural health services organizations, Geisinger serves more than 3 million residents throughout 48 counties in central, south-central and northeast Pennsylvania. The physician-led system is comprised of approximately 23,500 employees, including a 1,200-member multi-specialty group practice, nine hospital campuses, two research centers and a 467,000-member health plan, all of which leverage an estimated $7.7 billion positive impact on the Pennsylvania economy. The health system and the health plan have repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit www.geisinger.org, or follow the latest Geisinger news and more on Twitter and Facebook.
About David Ledbetter
David H. Ledbetter, Ph.D., FACMG, is executive vice president and chief scientific officer, Geisinger Health System. He is formally trained in human and medical genetics, with specialty training in clinical cytogenetics and genetic testing.
After his early discovery of the genetic cause of Prader-Willi syndrome and Miller-Dieker syndrome, he has focused his research efforts on discovering the underlying etiology of childhood developmental disabilities such as autism. He has been a participant and leader in the Human Genome Project since its inception in 1990 with a focus on the translation of new genomics technologies into clinically useful genetic tests for early diagnosis, intervention and prevention of disease.
His current research interest includes leveraging the massive amount of genomics data generated during routine patient care for knowledge generation and integration of this information into electronic health records in a clinically useful manner.
Dr. Ledbetter came to Geisinger from Atlanta's Emory University School of Medicine where he was the Robert W. Woodruff Professor and Director of the Division of Medical Genetics in the Department of Human Genetics.
He previously held academic and leadership positions at the University of Chicago, the National Center for Human Genome Research (now NHGRI) at NIH and Baylor College of Medicine. He is a graduate of Tulane University and earned his doctorate at the University of Texas-Austin.
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SOURCE Geisinger Health System