Collaboration includes whole genome sequencing of 1,000 healthy elderly in study
The not-for-profit Scripps Health system and Complete Genomics Inc. (NASDAQ: GNOM), the whole human genome sequencing company, today announced a major collaboration that will help further the , a landmark scientific research initiative aimed at unlocking the genetic secrets of lifelong health.
Under the collaboration, Complete Genomics will sequence, at its own cost, the whole human genomes of 1,000 participants in the Wellderly Study. The Wellderly Study is headed by Scripps Health Chief Academic Officer Dr. Eric 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 participants range 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 have helped protect the health of our Wellderly population.”
The purpose of the Wellderly Study is twofold. First, it is to uncover the genetic underpinnings of healthy life span, which likely involve guardian genes that protect against chronic diseases. Second, healthy older individuals are ideal controls for genetic studies of 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 may have broad applicability in the field of translational medicine.
“This resource of universal controls will be extremely valuable to other research groups that 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). STSI is a major research initiative of Scripps Health, in collaboration with The Scripps Research Institute.
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 genome via the Human Genome Project in 2000. 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 small orders and $4,000 each in volume.
Dr. Clifford Reid, the CEO of Complete Genomics, added, “What could be more exciting than to be working with Dr. Topol and his colleagues at Scripps to discover what makes people healthy into their 80s and beyond? Now that Complete Genomics has made whole human genome sequencing affordable, accurate and scalable, we have the opportunity to uncover what’s special in 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.
The Wellderly Study is an ongoing project with the goal of enrolling 2,000 elderly volunteers to donate their DNA to the program’s gene bank. People who meet the study criteria and are interested in participating are encouraged to call 1-800-SCRIPPS (1-800-727-4777) or send an email to firstname.lastname@example.org.
- Stephen Carpowich