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NHGRI to Sequence Genomes of 1,000 Individuals as It 'Explores Medical Role' of DNA Sequencing

NEW YORK (GenomeWeb News) — The National Human Genome Research Institute plans to launch a massive study to sequence the genomes of 1,000 individuals with a common disease and chart their progress over time, an NHGRI official told GenomeWeb Daily News yesterday. 
 
According to the NHGRI, the trans-NIH program, called ClinSeq, has a broader aim of helping the researchers explore the medical role for genome sequencing.
 
Over the next two years, the study will use 14 Applied Biosystems 3730 sequencers to initially screen 1,000 individuals with symptoms of coronary heart disease for between 200 and 400 genes linked to the condition, the NHGRI said. They will later be screened for other genetic variations.
 
“DNA research has been greatly slowed by the lack of DNA samples, and we are not able to be as aggressive [in our research] as we want to be,” NHGRI scientific director Eric Green told GenomeWeb Daily News. This study aims to help change that.
 
The NHGRI hopes the study, which will be led by Les Biesecker, Human Development section chief at the NHGRI, will also shed light on ways to effectively perform clinical sequencing projects, which in turn could improve pharmacogenomics, said Green, who is also director of the NIH Intramural Sequencing Center.
   
“I would like to see us gain experience and expertise in deploying large-scale sequencing in the context of clinical research,” Green said. That means “interacting with patients, talking with patients” in a clinical setting, and tracking their lives over time.
 
Flavia Facio, a genetic counselor and ClinSeq’s lead associate investigator, said the study has several goals beyond generating the coronary data, including “developing the process by which genome sequencing can be used as part of medical care, and assessing if participants want to acquire genetic information about themselves and how they respond to such information.”
 
The NHGRI said the initial phases of the study, which involves collecting and sequencing patient samples, will last two years. The subjects will be aged between 45 and 65 and located in and around the Baltimore, Md., and Washington, DC, regions, according to the NHGRI. The sequencing will be conducted at the NHGRI’s sequencing facility in Rockville, Md. 
 
The data will be anonymized and posted on the Internet for research purposes, Green said.
 
Researchers participating in ClinSeq will be from the National Heart, Lung, and Blood Institute; the NIH Clinical Center; the National Intramural Sequencing Center; the NIH Heart Center; and the National Institute of Biomedical Imaging and Bioengineering, the NHGRI said on its Web site.
 
Additional information about the study can be found here.

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