Oct 03, 2011
Complete Genomics Inc., a whole human genome sequencing company, and the not-for-profit Scripps Health system announced today they have entered into a major collaboration that will help further the Wellderly Study, a landmark scientific research initiative aimed at unlocking the genetic secrets of lifelong health.
Under the agreement, Complete Genomics will perform the whole human genome sequencing of 1,000 Wellderly Study participants. The Wellderly Study is headed by Scripps Health Chief Academic Officer Dr. Eric J. Topol, who has spent the past four years recruiting healthy elderly individuals who are at least 80 years old and free from major diseases and long-term medications. The median age of this study group is 87 and some participants are up to 108 years old.
“There have been a significant number of longevity studies, but the Wellderly Study is the first one focused specifically on healthy aging,” said Dr. Topol. “Furthermore, through our partnership with Complete Genomics, we are now conducting the largest whole genome study of a single phenotype – healthy lifespan or healthspan. We anticipate that by employing Complete Genomics’ sequencing service, and being able to study participants’ entire genome for the first time, we will gain valuable insights into the genetic variants that help protect the health of our Wellderly population.”
This study is now possible because the cost of whole human genome sequencing has decreased dramatically over the past few years, while the accuracy and efficiency of the technology has continued to increase. For example, it cost $3 billion to sequence the first human via the Human Genome Project in 2000. Then just two years ago, Complete Genomics was charging $20,000 to sequence a human genome and that price is now reduced to $5,000 apiece for large orders and $4,000 each for small orders.
The purpose of the Wellderly Study is twofold. First, it is to understand the genetic underpinnings of healthy life span, which likely involves modifier genes that protect certain people from getting chronic diseases. Second, since these individuals are free of diseases well into their ninth decade of life, they are well suited to be controls for genetic studies of other late-onset diseases such as various cancers, heart disease, Alzheimer’s disease and Parkinson’s disease.
In addition to sequencing the whole genomes of these 1,000 Wellderly Study participants, Complete Genomics will work with Scripps to assemble the results into a Wellderly Genomic Reference Resource, which will have broad applicability in the field of translational medicine.
“This resource of universal controls wil be made available to other research groups who are using sequencing to understand the genomic root causes of diseases,” said Dr. Nicholas Schork, director of research of the Scripps Translational Science Institute (STSI), a major research initiative at Scripps Health involving a collaboration with The Scripps Research Institute.
Dr. Clifford Reid, the CEO of Complete Genomics, added, “We are extremely pleased to be working with Dr. Topol and his colleagues at Scripps on this groundbreaking study. Now that Complete Genomics has made whole human genome sequencing more affordable, accurate and scalable than ever, we have a unique opportunity to learn more about the genetic makeup of this extraordinarily healthy group of individuals.”
Another valuable aspect of the Reference Resource will be the addition of Cypher Genomics clinical annotations to the sequencing datasets. Cypher Genomics is a project headed by Drs. Schork and Topol, as well as STSI faculty member Dr. Ali Torkamani and STSI industry liaison Dr. Ashley Van Zeeland. STSI has developed and plans to commercialize this software suite for annotating genomic variant lists with clinically relevant pathway and disease prediction information.
“The addition of Cypher Genomics annotations to the Reference Resource will provide researchers with a significant head start when they are looking to identify specific mutations that either cause or, in some cases prevent, the onset of specific diseases,” said Dr. Torkamani, director of drug discovery at STSI.
The Wellderly Genomic Reference Resource, which will contain sequence data, variant lists and clinical annotations from more than 1,000 individuals, will be available exclusively from Complete Genomics. Details of the financial terms of the collaboration between Complete Genomics and Scripps were not made public.
About Complete Genomics
Complete Genomics is a whole human genome sequencing company that has developed and commercialized an innovative DNA sequencing platform. The Complete Genomics Analysis Platform (CGA™ Platform) combines Complete Genomics’ proprietary human genome sequencing technology with our advanced informatics and data management software. We offer this solution as an innovative, end-to-end, outsourced service, CGA™ Service, and provide customers with data that is immediately ready to be used for genome-based research. Additional information can be found at http://www.completegenomics.com.
About Scripps Health
Founded in 1924 by philanthropist Ellen Browning Scripps, Scripps Health is a $2.3 billion nonprofit integrated health system based in San Diego, Calif. Scripps treats a half-million patients annually through the dedication of 2,600 affiliated physicians and 13,000 employees among its five acute-care hospital campuses, home health care services, and an ambulatory care network of physician offices and 23 outpatient centers and clinics.
Recognized as a leader in the prevention, diagnosis, and treatment of disease, Scripps is also at the forefront of clinical research, genomic medicine, wireless health care and graduate medical education. With three highly respected graduate medical education programs, Scripps is a longstanding member of the Association of American Medical Colleges. More information can be found at http://www.scripps.org.
About Cypher Genomics
Cypher Genomics, Inc. is a company focusing on the interpretation and analysis of DNA sequence information for research, clinical, individual disease risk assessment, and forensic purposes. Cypher leverages both a suite of proprietary computational tools to interrogate the molecular effects of sequence variation as well as sophisticated methodology for consolidating disease risk and phenotype expression information for individual genomic health profile reporting. Cypher emerged from research pursued at The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute. More information can be found at: http://cyphergenomics.com/