Skip to main content
Premium Trial:

Request an Annual Quote

With ClinSeq, NHGRI Queues up 1,000 Genomes in Two Years

Premium

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. 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.

During 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, NHGRI says. Those individuals 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,” says Eric Green, NHGRI scientific director. This study aims to help change that.

The institute hopes that the study, which will be led by section chief for Human Development Les Biesecker, will also shed light on ways to effectively perform clinical sequencing projects, which in turn could improve pharmacogenomics, says 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 says. 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, says 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.”

NHGRI says the initial phases of the study, which involve collecting and sequencing patient samples, will last two years. The subjects will be between 45 and 65 years of age and located in and around the Baltimore, Md., and Washington, DC, regions. Sequencing will be conducted at the NHGRI’s facility in Rockville, Md.

The data will be anonymized and posted on the Internet for research purposes, Green says.

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, according to NHGRI’s website.

The Scan

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

Investigators identified in the European Journal of Human Genetics variable follow-up practices after rapid whole-genome sequencing.

BMI-Related Variants Show Age-Related Stability in UK Biobank Participants

Researchers followed body mass index variant stability with genomic structural equation modeling and genome-wide association studies of 40- to 72-year olds in PLOS Genetics.

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.